Variant report

Variant	esv3437023
Chromosome Location	chr14:65170024-65173072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:375)
CpG islands
(count:977)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:65170885-65171124	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:65169837-65170179	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:65171350-65171390	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:65171678-65171834	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr14:65170725-65170999	HepG2	liver:	n/a	n/a
6	BHLHE40	chr14:65170741-65170930	GM12878	blood:	n/a	n/a
7	BRCA1	chr14:65170811-65171177	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr14:65172127-65172392	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:65171894-65172684	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr14:65169710-65170200	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr14:65172311-65172441	A549	lung:	n/a	n/a
12	CEBPB	chr14:65170895-65171205	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:65169231-65170113	H1-hESC	embryonic stem cell:	n/a	chr14:65169375-65169386
14	CEBPD	chr14:65170984-65171264	HepG2	liver:	n/a	n/a
15	CHD1	chr14:65171751-65171940	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr14:65170208-65171187	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr14:65172155-65172193	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:65169832-65170178	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr14:65171634-65172507	Hela-S3	cervix:	n/a	chr14:65172102-65172109
20	CHD2	chr14:65170985-65171257	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr14:65172234-65172252	GM12878	blood:	n/a	n/a
22	CHD2	chr14:65170898-65171424	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr14:65170592-65171724	HepG2	liver:	n/a	n/a
24	CREB1	chr14:65171213-65171463	A549	lung:	n/a	n/a
25	CTBP2	chr14:65170588-65172889	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr14:65169475-65170272	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr14:65171060-65171210	HMEC	breast:	n/a	n/a
28	CTCF	chr14:65171420-65171570	AG04449	skin:	n/a	chr14:65171530-65171543
29	CTCF	chr14:65169940-65170090	SAEC	small airway:	n/a	chr14:65169966-65169979
30	CTCF	chr14:65171080-65171230	AG04449	skin:	n/a	n/a
31	CTCF	chr14:65171100-65171250	HVMF	connective:	n/a	n/a
32	CTCF	chr14:65171149-65171209	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr14:65171840-65171990	SAEC	small airway:	n/a	n/a
34	CTCF	chr14:65171060-65171210	BJ	skin:	n/a	n/a
35	CTCF	chr14:65171160-65171310	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr14:65171800-65171950	HMEC	breast:	n/a	n/a
37	CTCF	chr14:65171080-65171230	HMEC	breast:	n/a	n/a
38	CTCF	chr14:65171180-65171330	NHEK	skin:	n/a	n/a
39	CTCF	chr14:65171180-65171330	SAEC	small airway:	n/a	n/a
40	CTCF	chr14:65171120-65171270	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr14:65171101-65171248	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr14:65171844-65171930	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:65171130-65171209	NHEK	skin:	n/a	n/a
44	E2F4	chr14:65170885-65172280	MCF10A-Er-Src	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109
45	E2F4	chr14:65170011-65170214	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr14:65170546-65171462	H1-hESC	embryonic stem cell:	n/a	chr14:65170968-65170978
47	E2F6	chr14:65170884-65171083	K562	blood:	n/a	chr14:65170968-65170978
48	E2F6	chr14:65170797-65171281	H1-hESC	embryonic stem cell:	n/a	chr14:65170968-65170978
49	E2F6	chr14:65171600-65172447	H1-hESC	embryonic stem cell:	n/a	chr14:65171866-65171881 chr14:65172102-65172109
50	E2F6	chr14:65170589-65172869	A549	lung:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65170049-65170099	IMR90	lung:	fetal
2	chr14:65170049-65170099	IMR90	lung:	fetal
3	chr14:65171037-65171087	ECC-1	luminal epithelium:	n/a
4	chr14:65171037-65171087	HRPEpiC	eye:	n/a
5	chr14:65171037-65171087	SK-N-SH	brain:	n/a
6	chr14:65170049-65170099	AG04449	skin:	fetal
7	chr14:65171037-65171087	ovcar-3	ovarian:	n/a
8	chr14:65170728-65170778	HCM	heart:	n/a
9	chr14:65171029-65171079	HNPCEpiC	eye:	n/a
10	chr14:65172195-65172245	HCM	heart:	n/a
11	chr14:65171098-65171148	CMK	blood:	n/a
12	chr14:65171098-65171148	HepG2	liver:	n/a
13	chr14:65171304-65171354	AG04450	lung:	fetal
14	chr14:65171037-65171087	NB4	blood:	n/a
15	chr14:65170689-65170739	SK-N-SH	brain:	n/a
16	chr14:65172103-65172153	NHBE	bronchial:	n/a
17	chr14:65170049-65170099	T-47D	breast:	n/a
18	chr14:65172195-65172245	BJ	skin:	n/a
19	chr14:65171098-65171148	HEK293	kidney:	embryo
20	chr14:65172103-65172153	AG04449	skin:	fetal
21	chr14:65171037-65171087	MCF-7	breast:	n/a
22	chr14:65172436-65172486	NH-A	brain:	n/a
23	chr14:65170689-65170739	U87	brain:	n/a
24	chr14:65170689-65170739	HCM	heart:	n/a
25	chr14:65172436-65172486	HIPEpiC	eye:	n/a
26	chr14:65172006-65172056	AG09309	skin:	n/a
27	chr14:65172436-65172486	MCF-7	breast:	n/a
28	chr14:65171809-65171859	SK-N-SH	brain:	n/a
29	chr14:65172436-65172486	HCM	heart:	n/a
30	chr14:65171809-65171859	HCM	heart:	n/a
31	chr14:65170209-65170259	HRCEpiC	kidney:	n/a
32	chr14:65170049-65170099	AG10803	skin:	n/a
33	chr14:65170689-65170739	NH-A	brain:	n/a
34	chr14:65172103-65172153	BJ	skin:	n/a
35	chr14:65171098-65171148	AG04449	skin:	fetal
36	chr14:65172103-65172153	HCPEpiC	choroid plexus:	n/a
37	chr14:65172195-65172245	U87	brain:	n/a
38	chr14:65170209-65170259	SAEC	small airway:	n/a
39	chr14:65170209-65170259	HPAEpiC	pulmonary alveolar:	n/a
40	chr14:65170049-65170099	AG09309	skin:	n/a
41	chr14:65172103-65172153	HEEpiC	esophagus:	n/a
42	chr14:65170209-65170259	AG04450	lung:	fetal
43	chr14:65171098-65171148	HCF	heart:	n/a
44	chr14:65171029-65171079	GM12891	blood:	n/a
45	chr14:65172436-65172486	ProgFib	skin:	n/a
46	chr14:65172436-65172486	HCT-116	colon:	n/a
47	chr14:65171673-65171723	GM19239	blood:	n/a
48	chr14:65170209-65170259	GM19239	blood:	n/a
49	chr14:65172436-65172486	BE2_C	brain:	n/a
50	chr14:65171058-65171108	HCT-116	colon:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64969978..64971737-chr14:65172793..65174564,2	MCF-7	breast:
2	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:
3	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
4	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
5	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
6	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
7	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
8	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
9	chr12:98987199..98987981-chr14:65171448..65172373,2	Hela-S3	cervix:
10	chr10:75910632..75911387-chr14:65170334..65171284,2	HCT-116	colon:
11	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:
12	chr14:65170634..65173219-chr14:65206307..65208864,3	MCF-7	breast:
13	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTB-1	chr14:65170749-65170923	XLOC_011052
2	lnc-SPTB-1	chr14:65170511-65170621	XLOC_011052

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
PLEKHG3	CpG island
ENSG00000185009	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000075415	chromatin interactions
ENSG00000070182	chromatin interactions
ENSG00000126822	chromatin interactions
ENSG00000156110	chromatin interactions
ENSG00000126804	chromatin interactions
BATF2	miRNA target sites
TPD52L2	miRNA target sites

Extended variants
information (count: 104 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370778709	chr14:65170051-65170052	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs141488053	chr14:65170057-65170058	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs574633644	chr14:65170075-65170076	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs59741174	chr14:65170076-65170077	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs543495678	chr14:65170088-65170089	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs146980822	chr14:65170111-65170112	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs147603852	chr14:65170122-65170123	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs532599913	chr14:65170126-65170127	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs552329101	chr14:65170216-65170217	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs182123742	chr14:65170251-65170252	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs375693301	chr14:65170281-65170282	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs186793361	chr14:65170294-65170295	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs367660797	chr14:65170328-65170329	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs116946247	chr14:65170447-65170448	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs528586591	chr14:65170499-65170500	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs548617401	chr14:65170539-65170540	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs58880032	chr14:65170547-65170548	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs190042398	chr14:65170593-65170594	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs537169261	chr14:65170602-65170603	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs149085963	chr14:65170616-65170617	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs570367725	chr14:65170664-65170665	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs539377847	chr14:65170735-65170736	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs377412851	chr14:65170789-65170790	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs552994909	chr14:65170800-65170801	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs143063585	chr14:65170838-65170839	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs35081818	chr14:65170866-65170867	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs535352795	chr14:65170890-65170891	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs537443384	chr14:65170896-65170897	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs557020932	chr14:65170953-65170954	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs570736878	chr14:65170977-65170978	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs543576213	chr14:65171022-65171023	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs557395323	chr14:65171029-65171030	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs374605578	chr14:65171057-65171058	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs533591013	chr14:65171102-65171103	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs539678640	chr14:65171124-65171125	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs148223587	chr14:65171134-65171135	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs559476343	chr14:65171157-65171158	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs71123877	chr14:65171158-65171159	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs528826884	chr14:65171212-65171213	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs181090340	chr14:65171213-65171214	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs562288238	chr14:65171227-65171228	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs531091439	chr14:65171234-65171235	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs550412616	chr14:65171237-65171238	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs570480722	chr14:65171304-65171305	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs229665	chr14:65171318-65171319	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs370943607	chr14:65171323-65171324	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs546614840	chr14:65171417-65171418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs566116534	chr14:65171451-65171452	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs535389450	chr14:65171456-65171457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs185615139	chr14:65171479-65171480	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65163200-65170600	Weak transcription	Right Ventricle	heart
2	chr14:65163400-65170400	Weak transcription	Left Ventricle	heart
3	chr14:65163400-65170600	Weak transcription	Right Atrium	heart
4	chr14:65166000-65170200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:65166200-65170400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65167600-65170400	Enhancers	Brain Substantia Nigra	brain
7	chr14:65167800-65170400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:65167800-65170600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:65167800-65170600	Enhancers	Brain Angular Gyrus	brain
10	chr14:65168200-65170200	Enhancers	Brain Anterior Caudate	brain
11	chr14:65168200-65170400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:65168200-65170400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr14:65168200-65170400	Enhancers	A549	lung
14	chr14:65168400-65170600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:65168600-65170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:65168600-65170400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr14:65168800-65170200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr14:65168800-65170400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:65169000-65170800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65169200-65170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65169200-65170200	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:65169200-65170400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:65169200-65170600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
24	chr14:65169200-65171200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr14:65169400-65170200	Enhancers	Adipose Nuclei	Adipose
27	chr14:65169400-65170200	Bivalent Enhancer	Fetal Thymus	thymus
28	chr14:65169400-65170200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:65169400-65170600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:65169400-65170800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr14:65169400-65170800	Enhancers	Lung	lung
32	chr14:65169400-65171000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:65169400-65171000	Flanking Active TSS	HMEC	breast
34	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:65169600-65170200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:65169600-65170200	Active TSS	Fetal Kidney	kidney
37	chr14:65169600-65170400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:65169600-65170400	Enhancers	Fetal Lung	lung
39	chr14:65169600-65170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:65169600-65170600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr14:65169600-65170800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:65169600-65170800	Flanking Active TSS	Placenta	Placenta
45	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
46	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr14:65169600-65171000	Flanking Active TSS	NHEK	skin
50	chr14:65169600-65171200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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