Variant report

Variant	nsv566028
Chromosome Location	chr14:104314023-104332759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:585)
CpG islands
(count:611)
Chromatin interactive
region (count:39)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:104328647-104329093	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:104329666-104329972	HepG2	liver:	n/a	n/a
3	BACH1	chr14:104314042-104314335	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr14:104313800-104314519	GM12878	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
5	BHLHE40	chr14:104313761-104314447	HepG2	liver:	n/a	chr14:104313776-104313792 chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313768-104313784 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104313782-104313798 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
6	BHLHE40	chr14:104313831-104314221	K562	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313950-104313966 chr14:104314095-104314111
7	BHLHE40	chr14:104329625-104329942	HepG2	liver:	n/a	n/a
8	BRCA1	chr14:104321774-104321883	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr14:104314080-104314189	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr14:104321547-104321607	GM12878	blood:	n/a	n/a
11	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
12	CEBPB	chr14:104321931-104322154	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr14:104332300-104332541	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:104332327-104332455	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:104326527-104327137	K562	blood:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
16	CEBPB	chr14:104326642-104326878	Hela-S3	cervix:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
17	CEBPB	chr14:104326524-104327065	HepG2	liver:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
18	CEBPB	chr14:104326577-104327078	A549	lung:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
19	CEBPB	chr14:104323868-104323985	A549	lung:	n/a	n/a
20	CEBPB	chr14:104326587-104326807	IMR90	lung:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
21	CEBPD	chr14:104313720-104314322	HepG2	liver:	n/a	n/a
22	CEBPD	chr14:104321783-104322133	HepG2	liver:	n/a	n/a
23	CHD2	chr14:104315671-104315743	HepG2	liver:	n/a	n/a
24	CHD2	chr14:104313992-104314251	K562	blood:	n/a	chr14:104314017-104314027
25	CHD2	chr14:104314070-104314275	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr14:104313625-104314313	Hela-S3	cervix:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
27	CHD2	chr14:104321950-104321982	HepG2	liver:	n/a	n/a
28	CHD2	chr14:104323396-104323398	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr14:104321621-104322108	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr14:104313729-104314361	GM12878	blood:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
31	CHD2	chr14:104314015-104314309	HepG2	liver:	n/a	chr14:104314017-104314027
32	CREB1	chr14:104313825-104314076	A549	lung:	n/a	n/a
33	CREB1	chr14:104313819-104314302	GM12878	blood:	n/a	n/a
34	CREB1	chr14:104313696-104314468	A549	lung:	n/a	n/a
35	CREB1	chr14:104313665-104314682	HepG2	liver:	n/a	n/a
36	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr14:104321288-104322141	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:104322640-104322790	GM12864	blood:	n/a	n/a
39	CTCF	chr14:104321540-104321690	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:104322560-104322710	SAEC	small airway:	n/a	n/a
41	CTCF	chr14:104328580-104328730	BE2_C	brain:	n/a	n/a
42	CTCF	chr14:104322540-104322690	HMEC	breast:	n/a	n/a
43	CTCF	chr14:104322627-104322753	GM19240	blood:	n/a	n/a
44	CTCF	chr14:104321561-104321576	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr14:104322665-104322722	LNCaP	prostate:	n/a	n/a
46	CTCF	chr14:104322620-104322770	HEK293	kidney:	n/a	n/a
47	CTCF	chr14:104328580-104328730	HepG2	liver:	n/a	n/a
48	CTCF	chr14:104322560-104322791	K562	blood:	n/a	n/a
49	CTCF	chr14:104322574-104322766	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:104321420-104321570	MCF-7	breast:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104321893-104321943	HAEpiC	amniotic membrane:	n/a
2	chr14:104321893-104321943	HAEpiC	amniotic membrane:	n/a
3	chr14:104314557-104314607	NB4	blood:	n/a
4	chr14:104314583-104314633	HRCEpiC	kidney:	n/a
5	chr14:104314518-104314568	K562	blood:	n/a
6	chr14:104321893-104321943	HEK293	kidney:	embryo
7	chr14:104314518-104314568	HRPEpiC	eye:	n/a
8	chr14:104314557-104314607	SK-N-SH_RA	brain:	n/a
9	chr14:104315202-104315252	SKMC	muscle:	n/a
10	chr14:104314434-104314484	CMK	blood:	n/a
11	chr14:104314434-104314484	ProgFib	skin:	n/a
12	chr14:104315202-104315252	SK-N-SH_RA	brain:	n/a
13	chr14:104314557-104314607	SK-N-MC	brain:	n/a
14	chr14:104315202-104315252	RPTEC	kidney:	n/a
15	chr14:104314583-104314633	H1-hESC	embryonic stem cell:	embryo
16	chr14:104315145-104315195	ECC-1	luminal epithelium:	n/a
17	chr14:104314734-104314784	NB4	blood:	n/a
18	chr14:104315145-104315195	RPTEC	kidney:	n/a
19	chr14:104314583-104314633	RPTEC	kidney:	n/a
20	chr14:104314434-104314484	U87	brain:	n/a
21	chr14:104314438-104314488	AG09319	gingival:	n/a
22	chr14:104321893-104321943	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:104314434-104314484	HCPEpiC	choroid plexus:	n/a
24	chr14:104321893-104321943	PFSK-1	brain:	n/a
25	chr14:104314518-104314568	T-47D	breast:	n/a
26	chr14:104315145-104315195	K562	blood:	n/a
27	chr14:104314434-104314484	Caco-2	colon:	n/a
28	chr14:104314518-104314568	NH-A	brain:	n/a
29	chr14:104315145-104315195	Hela-S3	cervix:	n/a
30	chr14:104321893-104321943	PrEC	prostate:	n/a
31	chr14:104314518-104314568	PFSK-1	brain:	n/a
32	chr14:104315145-104315195	MCF10A-Er-Src	breast:	n/a
33	chr14:104314438-104314488	MCF10A-Er-Src	breast:	n/a
34	chr14:104314557-104314607	U87	brain:	n/a
35	chr14:104314518-104314568	CMK	blood:	n/a
36	chr14:104314434-104314484	BJ	skin:	n/a
37	chr14:104314583-104314633	AG09309	skin:	n/a
38	chr14:104321893-104321943	GM12878	blood:	n/a
39	chr14:104314557-104314607	GM06990	blood:	n/a
40	chr14:104314734-104314784	Jurkat	blood:	n/a
41	chr14:104315202-104315252	NHDF-neo	bronchial:	n/a
42	chr14:104314438-104314488	HNPCEpiC	eye:	n/a
43	chr14:104314557-104314607	Jurkat	blood:	n/a
44	chr14:104314438-104314488	Hela-S3	cervix:	n/a
45	chr14:104314434-104314484	HCM	heart:	n/a
46	chr14:104321893-104321943	LNCaP	prostate:	n/a
47	chr14:104314557-104314607	HMEC	breast:	n/a
48	chr14:104314583-104314633	AG04450	lung:	fetal
49	chr14:104314438-104314488	NHDF-neo	bronchial:	n/a
50	chr14:104314557-104314607	BE2_C	brain:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104321544..104323309-chr14:104582015..104584779,2	MCF-7	breast:
2	chr14:104320527..104323273-chr14:104369468..104371736,3	MCF-7	breast:
3	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:
4	chr14:104321265..104323478-chr14:104393162..104395402,2	MCF-7	breast:
5	chr14:104330031..104331593-chr14:104332707..104335169,2	MCF-7	breast:
6	chr14:104320208..104324271-chr14:104346660..104350133,4	MCF-7	breast:
7	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
8	chr14:104321329..104324090-chr14:104325687..104328665,2	K562	blood:
9	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
10	chr14:104320014..104324951-chr14:104331915..104336985,8	MCF-7	breast:
11	chr14:104326668..104329470-chr14:104331066..104333626,2	MCF-7	breast:
12	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
13	chr14:104321815..104323849-chr14:104376770..104378345,2	MCF-7	breast:
14	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:
15	chr14:104330031..104331593-chr14:104332707..104335169,2	MCF-7	breast:
16	chr14:104319048..104323751-chr14:104384975..104388146,4	MCF-7	breast:
17	chr14:104327639..104330027-chr14:104333927..104335918,2	MCF-7	breast:
18	chr14:104324206..104326944-chr14:104336332..104338348,2	MCF-7	breast:
19	chr14:104313671..104314414-chr17:56736212..56736992,2	HCT-116	colon:
20	chr14:104330975..104333477-chr14:104336813..104338473,2	MCF-7	breast:
21	chr14:104274623..104275848-chr14:104322262..104323054,3	MCF-7	breast:
22	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
23	chr14:104327401..104329764-chr14:104341048..104343389,2	MCF-7	breast:
24	chr14:104309239..104311339-chr14:104321164..104323172,2	MCF-7	breast:
25	chr14:104320605..104323611-chr14:104373502..104376733,3	MCF-7	breast:
26	chr14:104322796..104324811-chr14:104333710..104335450,2	K562	blood:
27	chr14:104320014..104324951-chr14:104331915..104336985,8	MCF-7	breast:
28	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
29	chr14:104321201..104322886-chr14:104337478..104339238,2	MCF-7	breast:
30	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
31	chr14:104320594..104323018-chr14:104349310..104351645,2	MCF-7	breast:
32	chr14:104326668..104329470-chr14:104331066..104333626,2	MCF-7	breast:
33	chr14:104319613..104324063-chr14:104346589..104349290,5	MCF-7	breast:
34	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
35	chr14:104312628..104315873-chr14:104326580..104329537,3	MCF-7	breast:
36	chr14:104290311..104292684-chr14:104319761..104322144,2	MCF-7	breast:
37	chr14:104321329..104324090-chr14:104325687..104328665,2	K562	blood:
38	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
39	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2134A5.2.1-1	chr14:104314058-104314080	XLOC_010944
2	lnc-CTD-2134A5.2.1-1	chr14:104320633-104320739	XLOC_010944
3	lnc-CTD-2134A5.2.1-1	chr14:104322461-104324386	XLOC_010944
4	lnc-PPP1R13B-1	chr14:104320703-104320881	ENSG00000258534

No data

Variant related genes	Relation type
PPP1R13B	TF binding region
LINC00637	TF binding region
PPP1R13B	CpG island
LINC00637	CpG island
ENSG00000258914	chromatin interactions
ENSG00000156414	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000258735	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000202077	chromatin interactions
KIT	miRNA target sites
ATP1B2	miRNA target sites
JUP	miRNA target sites

Extended variants
information (count: 730 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528184442	chr14:104314034-104314035	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs547539437	chr14:104314043-104314044	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs570707483	chr14:104314045-104314046	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs539679142	chr14:104314047-104314048	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs556418465	chr14:104314050-104314051	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs570273444	chr14:104314052-104314053	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs147744696	chr14:104314083-104314084	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
8	rs555484559	chr14:104314123-104314124	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs201530021	chr14:104314182-104314183	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs10083367	chr14:104314183-104314184	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558321643	chr14:104314231-104314232	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs577898714	chr14:104314275-104314276	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs543672484	chr14:104314310-104314311	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs543405178	chr14:104314459-104314460	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs140950233	chr14:104314462-104314463	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376765117	chr14:104314486-104314487	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs374285887	chr14:104314632-104314633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs529192843	chr14:104314684-104314685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs144807465	chr14:104314698-104314699	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs369360502	chr14:104314752-104314753	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs113614893	chr14:104314760-104314761	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372936264	chr14:104314786-104314787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs151278042	chr14:104314790-104314791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs566292666	chr14:104314798-104314799	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs533320837	chr14:104314803-104314804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs549976637	chr14:104314808-104314809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs187004523	chr14:104314942-104314943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs535776088	chr14:104314954-104314955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs549695258	chr14:104314960-104314961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs140482655	chr14:104315016-104315017	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs535055757	chr14:104315033-104315034	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs377222671	chr14:104315041-104315042	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs558264473	chr14:104315074-104315075	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs368454709	chr14:104315081-104315082	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs578160844	chr14:104315117-104315118	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs537211496	chr14:104315146-104315147	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201328845	chr14:104315183-104315184	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs150402926	chr14:104315186-104315187	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573833750	chr14:104315188-104315189	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs191089174	chr14:104315208-104315209	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528640391	chr14:104315264-104315265	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372772170	chr14:104315267-104315268	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543227454	chr14:104315282-104315283	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572482578	chr14:104315351-104315352	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs145151243	chr14:104315390-104315391	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113302860	chr14:104315440-104315441	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4906379	chr14:104315491-104315492	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs182451127	chr14:104315513-104315514	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144929938	chr14:104315524-104315525	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529528470	chr14:104315720-104315721	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	20824076	CNVD
Colorectal cancer	20824076	CNVD
Non-small cell lung cancer	20824076	CNVD
Ovarian cancer	20824076	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:104311800-104314600	Active TSS	Right Atrium	heart
3	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
5	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
9	chr14:104312400-104314600	Active TSS	Lung	lung
10	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
12	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr14:104312600-104315200	Active TSS	Ovary	ovary
14	chr14:104312800-104314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:104312800-104314400	Active TSS	Aorta	Aorta
16	chr14:104312800-104314400	Active TSS	Gastric	stomach
17	chr14:104312800-104314600	Active TSS	Fetal Intestine Small	intestine
18	chr14:104312800-104314600	Active TSS	Pancreas	Pancrea
19	chr14:104312800-104314600	Active TSS	GM12878-XiMat	blood
20	chr14:104312800-104314800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:104312800-104314800	Active TSS	Esophagus	oesophagus
22	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
24	chr14:104313000-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:104313000-104314400	Active TSS	HMEC	breast
26	chr14:104313000-104314600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:104313000-104314600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:104313000-104314600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:104313000-104314600	Active TSS	Brain Hippocampus Middle	brain
30	chr14:104313000-104314600	Active TSS	Fetal Intestine Large	intestine
31	chr14:104313000-104314600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:104313000-104314600	Active TSS	HSMMtube	muscle
33	chr14:104313000-104314600	Active TSS	NHEK	skin
34	chr14:104313000-104314800	Active TSS	Small Intestine	intestine
35	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
37	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
38	chr14:104313200-104314200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:104313200-104314200	Active TSS	Fetal Kidney	kidney
40	chr14:104313200-104314400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:104313200-104314400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:104313200-104314400	Active TSS	NHDF-Ad	bronchial
43	chr14:104313200-104314400	Active TSS	NHLF	lung
44	chr14:104313200-104314600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:104313200-104314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:104313200-104314600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:104313200-104314600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:104313200-104314600	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:104313200-104314600	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr14:104313200-104314600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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