Variant report

Variant	nsv522667
Chromosome Location	chr14:24641526-24654590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:543)
CpG islands
(count:489)
Chromatin interactive
region (count:28)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:24640672-24641712	GM12878	blood:	n/a	n/a
2	ATF2	chr14:24640618-24641602	GM12878	blood:	n/a	n/a
3	BACH1	chr14:24641624-24641717	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr14:24640733-24641634	GM12878	blood:	n/a	n/a
5	BCLAF1	chr14:24640631-24641848	GM12878	blood:	n/a	n/a
6	BCLAF1	chr14:24650956-24651718	GM12878	blood:	n/a	n/a
7	BCLAF1	chr14:24640632-24641617	GM12878	blood:	n/a	n/a
8	CEBPB	chr14:24649328-24649520	IMR90	lung:	n/a	n/a
9	CHD1	chr14:24641709-24641770	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr14:24640696-24641526	GM12878	blood:	n/a	n/a
11	CHD2	chr14:24640687-24641790	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr14:24649203-24649670	ECC-1	luminal epithelium:	n/a	n/a
13	CREB1	chr14:24640764-24641602	GM12878	blood:	n/a	n/a
14	CTCF	chr14:24641620-24641770	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr14:24648440-24648590	HepG2	liver:	n/a	chr14:24648534-24648544 chr14:24648527-24648545
16	CTCF	chr14:24648480-24648630	HEK293	kidney:	n/a	chr14:24648534-24648544 chr14:24648527-24648545
17	CTCF	chr14:24641720-24641870	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr14:24648400-24648550	WERI-Rb-1	eye:	n/a	chr14:24648534-24648544 chr14:24648527-24648545
19	CTCF	chr14:24648480-24648630	GM12869	blood:	n/a	chr14:24648534-24648544 chr14:24648527-24648545
20	CTCF	chr14:24641720-24641870	WERI-Rb-1	eye:	n/a	n/a
21	E2F6	chr14:24640756-24641645	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr14:24640719-24641849	H1-hESC	embryonic stem cell:	n/a	chr14:24641831-24641845 chr14:24641834-24641849
23	EBF1	chr14:24640801-24641613	GM12878	blood:	n/a	chr14:24641344-24641355
24	EBF1	chr14:24640697-24641600	GM12878	blood:	n/a	chr14:24641344-24641355
25	EBF1	chr14:24640734-24641593	GM12878	blood:	n/a	chr14:24641344-24641355
26	ELF1	chr14:24640665-24641851	GM12878	blood:	n/a	n/a
27	ELF1	chr14:24640506-24641625	GM12878	blood:	n/a	n/a
28	EP300	chr14:24640548-24642714	SK-N-SH	brain:	n/a	n/a
29	FOS	chr14:24649366-24649556	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr14:24649355-24649555	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:24649377-24649440	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXM1	chr14:24640664-24641807	GM12878	blood:	n/a	n/a
33	FOXM1	chr14:24640557-24642015	GM12878	blood:	n/a	n/a
34	GATA2	chr14:24642132-24642591	SH-SY5Y	brain:	n/a	n/a
35	HEY1	chr14:24648053-24648555	HepG2	liver:	n/a	n/a
36	HEY1	chr14:24646651-24646905	HepG2	liver:	n/a	n/a
37	JUND	chr14:24649317-24649586	HepG2	liver:	n/a	chr14:24649469-24649480
38	JUND	chr14:24640888-24641559	H1-hESC	embryonic stem cell:	n/a	n/a
39	KAP1	chr14:24649302-24649598	U2OS	brain:	n/a	n/a
40	MAX	chr14:24640714-24641999	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
41	MAX	chr14:24640734-24641987	SK-N-SH	brain:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
42	MAX	chr14:24640785-24641594	GM12878	blood:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
43	MAX	chr14:24640722-24642009	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
44	MAX	chr14:24640767-24641930	SK-N-SH	brain:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
45	MAX	chr14:24641041-24641705	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
46	MAZ	chr14:24644493-24644588	K562	blood:	n/a	n/a
47	MTA3	chr14:24650015-24650429	GM12878	blood:	n/a	n/a
48	MTA3	chr14:24652228-24652701	GM12878	blood:	n/a	n/a
49	MTA3	chr14:24641979-24642609	GM12878	blood:	n/a	n/a
50	MTA3	chr14:24640507-24641950	GM12878	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24641501-24641551	GM19239	blood:	n/a
2	chr14:24641501-24641551	GM19239	blood:	n/a
3	chr14:24649335-24649385	RPTEC	kidney:	n/a
4	chr14:24641706-24641756	NB4	blood:	n/a
5	chr14:24642317-24642367	AoSMC	blood vessel:	n/a
6	chr14:24641706-24641756	Caco-2	colon:	n/a
7	chr14:24642219-24642269	HAEpiC	amniotic membrane:	n/a
8	chr14:24642219-24642269	PANC-1	pancreas:	n/a
9	chr14:24642317-24642367	GM12878	blood:	n/a
10	chr14:24653711-24653761	NB4	blood:	n/a
11	chr14:24642317-24642367	U87	brain:	n/a
12	chr14:24644504-24644554	ECC-1	luminal epithelium:	n/a
13	chr14:24653711-24653761	SKMC	muscle:	n/a
14	chr14:24644504-24644554	SK-N-MC	brain:	n/a
15	chr14:24653711-24653761	NT2-D1	testis:	n/a
16	chr14:24653711-24653761	RPTEC	kidney:	n/a
17	chr14:24642317-24642367	GM12892	blood:	n/a
18	chr14:24649335-24649385	HEEpiC	esophagus:	n/a
19	chr14:24649335-24649385	MCF-7	breast:	n/a
20	chr14:24641852-24641902	BE2_C	brain:	n/a
21	chr14:24653711-24653761	HL-60	blood:	n/a
22	chr14:24641501-24641551	U87	brain:	n/a
23	chr14:24649335-24649385	HNPCEpiC	eye:	n/a
24	chr14:24649335-24649385	SAEC	small airway:	n/a
25	chr14:24642317-24642367	MCF10A-Er-Src	breast:	n/a
26	chr14:24642219-24642269	NHBE	bronchial:	n/a
27	chr14:24642317-24642367	NH-A	brain:	n/a
28	chr14:24644504-24644554	U87	brain:	n/a
29	chr14:24653711-24653761	K562	blood:	n/a
30	chr14:24641852-24641902	ProgFib	skin:	n/a
31	chr14:24642317-24642367	RPTEC	kidney:	n/a
32	chr14:24653711-24653761	HepG2	liver:	n/a
33	chr14:24641852-24641902	SK-N-SH_RA	brain:	n/a
34	chr14:24641501-24641551	HCF	heart:	n/a
35	chr14:24641706-24641756	T-47D	breast:	n/a
36	chr14:24641706-24641756	HMEC	breast:	n/a
37	chr14:24653711-24653761	NHBE	bronchial:	n/a
38	chr14:24641501-24641551	HCM	heart:	n/a
39	chr14:24641706-24641756	HRPEpiC	eye:	n/a
40	chr14:24649335-24649385	IMR90	lung:	fetal
41	chr14:24641706-24641756	ovcar-3	ovarian:	n/a
42	chr14:24642219-24642269	PFSK-1	brain:	n/a
43	chr14:24641501-24641551	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:24642317-24642367	IMR90	lung:	fetal
45	chr14:24641852-24641902	GM12878	blood:	n/a
46	chr14:24642317-24642367	HCF	heart:	n/a
47	chr14:24642219-24642269	SAEC	small airway:	n/a
48	chr14:24644504-24644554	SAEC	small airway:	n/a
49	chr14:24649335-24649385	T-47D	breast:	n/a
50	chr14:24641706-24641756	HAEpiC	amniotic membrane:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
2	chr14:24624246..24626788-chr14:24641996..24643836,2	K562	blood:
3	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:
4	chr14:24603743..24605973-chr14:24646777..24648838,2	K562	blood:
5	chr14:24616879..24619569-chr14:24649212..24652143,2	K562	blood:
6	chr14:24642248..24644284-chr14:24723832..24725589,2	MCF-7	breast:
7	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
8	chr14:24582819..24585430-chr14:24652539..24655541,3	MCF-7	breast:
9	chr14:24583410..24585426-chr14:24647277..24649187,2	MCF-7	breast:
10	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
11	chr14:24629039..24631896-chr14:24646822..24648474,2	K562	blood:
12	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
13	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
14	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
15	chr14:24651928..24654736-chr14:24673769..24676692,2	MCF-7	breast:
16	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:
17	chr1:149223792..149225481-chr14:24649536..24651486,2	MCF-7	breast:
18	chr14:24625193..24627577-chr14:24641996..24645426,3	K562	blood:
19	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
20	chr14:24647886..24650156-chr14:24680115..24682418,2	MCF-7	breast:
21	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
22	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
23	chr14:24644916..24647133-chr14:24681211..24683281,2	MCF-7	breast:
24	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
25	chr14:24562605..24564196-chr14:24654231..24655795,2	K562	blood:
26	chr14:24633156..24635332-chr14:24644913..24646452,2	K562	blood:
27	chr14:24631619..24637585-chr14:24644952..24647499,6	K562	blood:
28	chr14:24647373..24649581-chr14:24682421..24684138,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REC8-1	chr14:24651818-24651906	l_943_chr14:24634326-24661062_testes
2	lnc-CHMP4A-1	chr14:24651818-24651906	l_944_chr14:24641101-24695318_testes
3	lnc-RP11-468E2.4.1-2	chr14:24646716-24646747	NONHSAT035999
4	lnc-RP11-468E2.4.1-2	chr14:24646915-24647306	NONHSAT035999

No data

Variant related genes	Relation type
IPO4	TF binding region
REC8	TF binding region
IPO4	CpG island
REC8	CpG island
ENSG00000260669	chromatin interactions
ENSG00000139908	chromatin interactions
ENSG00000092295	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000100897	chromatin interactions
ENSG00000129535	chromatin interactions
ENSG00000254505	chromatin interactions
ENSG00000092010	chromatin interactions
ENSG00000254692	chromatin interactions
ENSG00000100889	chromatin interactions
ENSG00000092098	chromatin interactions
ENSG00000213928	chromatin interactions
ENSG00000186648	chromatin interactions
ENSG00000100918	chromatin interactions
ENSG00000213903	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000213920	chromatin interactions

Extended variants
information (count: 739 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:739 , 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	rs4761	chr14:24641526-24641527	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368901895	chr14:24641540-24641541	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs536316929	chr14:24641551-24641552	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs11547060	chr14:24641556-24641557	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs529203297	chr14:24641626-24641627	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs372162468	chr14:24641696-24641697	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs375067695	chr14:24641712-24641713	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs553455938	chr14:24641728-24641729	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs368373629	chr14:24641730-24641731	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs17101730	chr14:24641838-24641839	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375951605	chr14:24641858-24641859	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs558812714	chr14:24641869-24641870	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs373548567	chr14:24641892-24641893	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs368977212	chr14:24641894-24641895	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs373216429	chr14:24641928-24641929	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs543783644	chr14:24641935-24641936	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs34075659	chr14:24641956-24641957	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs376933758	chr14:24641979-24641980	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs369973401	chr14:24641995-24641996	Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs532908197	chr14:24642027-24642028	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs374527186	chr14:24642036-24642037	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs574388918	chr14:24642061-24642062	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs377625914	chr14:24642071-24642072	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs371053208	chr14:24642082-24642083	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs373659526	chr14:24642093-24642094	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs377239745	chr14:24642099-24642100	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs370197598	chr14:24642109-24642110	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs200486769	chr14:24642141-24642142	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs200093612	chr14:24642142-24642143	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs367739958	chr14:24642150-24642151	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs370925288	chr14:24642193-24642194	Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs552447292	chr14:24642215-24642216	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs185284630	chr14:24642255-24642256	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs531673518	chr14:24642256-24642257	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs374576793	chr14:24642295-24642296	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs535859181	chr14:24642314-24642315	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs368303020	chr14:24642318-24642319	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs372055976	chr14:24642336-24642337	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs35282724	chr14:24642341-24642342	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs11547058	chr14:24642348-24642349	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530107293	chr14:24642359-24642360	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs367867254	chr14:24642361-24642362	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs200268439	chr14:24642386-24642387	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs371730396	chr14:24642393-24642394	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs117843614	chr14:24642395-24642396	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs566992765	chr14:24642447-24642448	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs368888997	chr14:24642451-24642452	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs374389257	chr14:24642460-24642461	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs143804964	chr14:24642480-24642481	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs201504413	chr14:24642481-24642482	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24642200	Weak transcription	Hela-S3	cervix
7	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
8	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:24637000-24648000	Weak transcription	HSMM	muscle
10	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
11	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24637200-24646000	Weak transcription	HepG2	liver
15	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
16	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24638800-24643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24639200-24645800	Weak transcription	Osteobl	bone
20	chr14:24639600-24641600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:24639800-24641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:24639800-24642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:24640200-24641800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:24640200-24642000	Active TSS	Brain Germinal Matrix	brain
25	chr14:24640200-24642800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:24640400-24641600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:24640400-24641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr14:24640400-24642000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr14:24640400-24642600	Flanking Active TSS	Fetal Thymus	thymus
30	chr14:24640600-24641600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:24640600-24641600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:24640600-24641600	Active TSS	Brain Cingulate Gyrus	brain
33	chr14:24640600-24641600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:24640600-24641600	Active TSS	Colon Smooth Muscle	Colon
35	chr14:24640600-24641600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr14:24640600-24641600	Flanking Active TSS	Right Ventricle	heart
37	chr14:24640600-24641600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr14:24640600-24641800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr14:24640600-24641800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:24640600-24641800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:24640600-24641800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr14:24640600-24641800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:24640600-24641800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr14:24640600-24641800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:24640600-24641800	Flanking Active TSS	Spleen	Spleen
46	chr14:24640600-24642000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:24640600-24642000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr14:24640600-24642000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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