Variant report

Variant	esv3357523
Chromosome Location	chr4:674177-676725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:368)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:674890-675090	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:674775-675813	K562	blood:	n/a	n/a
3	BHLHE40	chr4:675165-675801	HepG2	liver:	n/a	n/a
4	BHLHE40	chr4:675016-675393	GM12878	blood:	n/a	n/a
5	BRCA1	chr4:675765-675805	HepG2	liver:	n/a	n/a
6	CBX3	chr4:674721-675247	K562	blood:	n/a	n/a
7	CCNT2	chr4:674783-675232	K562	blood:	n/a	chr4:675191-675200 chr4:675126-675135
8	CCNT2	chr4:675551-675973	K562	blood:	n/a	n/a
9	CEBPD	chr4:675548-675845	HepG2	liver:	n/a	n/a
10	CHD2	chr4:675593-675779	HepG2	liver:	n/a	n/a
11	CHD2	chr4:675075-675208	K562	blood:	n/a	n/a
12	CHD2	chr4:674681-674754	K562	blood:	n/a	n/a
13	CHD2	chr4:675586-675761	K562	blood:	n/a	n/a
14	CHD2	chr4:674512-674707	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr4:674480-674925	GM12878	blood:	n/a	n/a
16	CTBP2	chr4:674238-675244	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:676549-676688	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:676580-676730	K562	blood:	n/a	n/a
19	CTCF	chr4:676585-676614	LNCaP	prostate:	n/a	n/a
20	CTCF	chr4:676589-676699	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:676520-676670	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:676547-676694	NHEK	skin:	n/a	n/a
23	CTCF	chr4:676533-676701	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:676520-676670	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr4:676440-676590	SAEC	small airway:	n/a	n/a
26	CTCF	chr4:674215-674219	K562	blood:	n/a	n/a
27	CTCF	chr4:676632-676653	GM19239	blood:	n/a	n/a
28	CTCF	chr4:676600-676750	Caco-2	colon:	n/a	n/a
29	CTCF	chr4:676500-676650	HepG2	liver:	n/a	n/a
30	CTCF	chr4:676520-676670	GM12868	blood:	n/a	n/a
31	CTCF	chr4:676578-676632	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:676554-676688	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:676060-676210	K562	blood:	n/a	n/a
34	CTCF	chr4:675092-675182	K562	blood:	n/a	n/a
35	CTCF	chr4:674180-674330	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr4:676520-676670	SAEC	small airway:	n/a	n/a
37	CTCF	chr4:676558-676662	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:676658-676666	GM19239	blood:	n/a	n/a
39	CTCF	chr4:675785-675790	K562	blood:	n/a	n/a
40	CUX1	chr4:675701-675786	K562	blood:	n/a	n/a
41	E2F6	chr4:674728-675412	H1-hESC	embryonic stem cell:	n/a	n/a
42	E2F6	chr4:674754-675096	K562	blood:	n/a	n/a
43	E2F6	chr4:673413-674317	H1-hESC	embryonic stem cell:	n/a	chr4:673584-673596
44	E2F6	chr4:675108-675393	K562	blood:	n/a	n/a
45	E2F6	chr4:675268-675379	K562	blood:	n/a	n/a
46	E2F6	chr4:674399-674642	K562	blood:	n/a	n/a
47	E2F6	chr4:674467-675822	K562	blood:	n/a	chr4:675576-675585
48	E2F6	chr4:674832-675009	K562	blood:	n/a	n/a
49	E2F6	chr4:675528-675688	K562	blood:	n/a	chr4:675576-675585
50	EBF1	chr4:674312-674528	GM12878	blood:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:675936-675986	SK-N-SH	brain:	n/a
2	chr4:675827-675877	GM12892	blood:	n/a
3	chr4:675936-675986	SK-N-SH	brain:	n/a
4	chr4:675827-675877	GM12892	blood:	n/a
5	chr4:675264-675314	AG04450	lung:	fetal
6	chr4:675936-675986	K562	blood:	n/a
7	chr4:675827-675877	HRPEpiC	eye:	n/a
8	chr4:675137-675187	IMR90	lung:	fetal
9	chr4:675264-675314	SK-N-SH	brain:	n/a
10	chr4:675936-675986	HCF	heart:	n/a
11	chr4:675827-675877	K562	blood:	n/a
12	chr4:675827-675877	Jurkat	blood:	n/a
13	chr4:675137-675187	AG10803	skin:	n/a
14	chr4:674399-674449	HUVEC	blood vessel:	n/a
15	chr4:675827-675877	HRE	kidney:	n/a
16	chr4:675264-675314	IMR90	lung:	fetal
17	chr4:674590-674640	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:675936-675986	MCF-7	breast:	n/a
19	chr4:675264-675314	H1-hESC	embryonic stem cell:	embryo
20	chr4:674590-674640	RPTEC	kidney:	n/a
21	chr4:675264-675314	HAEpiC	amniotic membrane:	n/a
22	chr4:674399-674449	SKMC	muscle:	n/a
23	chr4:675827-675877	SKMC	muscle:	n/a
24	chr4:675137-675187	Hela-S3	cervix:	n/a
25	chr4:675264-675314	HCT-116	colon:	n/a
26	chr4:674399-674449	SK-N-SH_RA	brain:	n/a
27	chr4:674590-674640	HL-60	blood:	n/a
28	chr4:675264-675314	SK-N-SH_RA	brain:	n/a
29	chr4:675264-675314	PFSK-1	brain:	n/a
30	chr4:675264-675314	SK-N-MC	brain:	n/a
31	chr4:674590-674640	GM12878	blood:	n/a
32	chr4:674590-674640	Jurkat	blood:	n/a
33	chr4:674590-674640	PrEC	prostate:	n/a
34	chr4:675137-675187	PrEC	prostate:	n/a
35	chr4:674590-674640	HIPEpiC	eye:	n/a
36	chr4:675827-675877	HMEC	breast:	n/a
37	chr4:675264-675314	U87	brain:	n/a
38	chr4:675137-675187	HCPEpiC	choroid plexus:	n/a
39	chr4:675936-675986	LNCaP	prostate:	n/a
40	chr4:675936-675986	ovcar-3	ovarian:	n/a
41	chr4:674399-674449	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:675137-675187	NHDF-neo	bronchial:	n/a
43	chr4:674590-674640	AG04450	lung:	fetal
44	chr4:675936-675986	HUVEC	blood vessel:	n/a
45	chr4:675264-675314	MCF-7	breast:	n/a
46	chr4:675137-675187	Caco-2	colon:	n/a
47	chr4:675137-675187	GM12891	blood:	n/a
48	chr4:675827-675877	AG09309	skin:	n/a
49	chr4:674399-674449	HEK293	kidney:	embryo
50	chr4:675936-675986	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
2	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
3	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
4	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
5	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
6	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
7	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
8	chr4:675798..677554-chr4:822582..825253,2	K562	blood:
9	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
10	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
11	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
12	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
13	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP5I-3	chr4:675619-676147	NONHSAT094601

No data

Variant related genes	Relation type
MYL5	TF binding region
MYL5	CpG island
ENSG00000185619	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000242686	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549387461	chr4:674221-674222	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs561412705	chr4:674262-674263	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs10023220	chr4:674267-674268	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374325223	chr4:674272-674273	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548351810	chr4:674273-674274	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs201508988	chr4:674286-674287	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376380382	chr4:674294-674295	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371042148	chr4:674296-674297	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs200452939	chr4:674299-674300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567000230	chr4:674302-674303	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs373616918	chr4:674306-674307	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs367674993	chr4:674308-674309	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369784548	chr4:674309-674310	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs552551762	chr4:674326-674327	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571127151	chr4:674327-674328	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201436287	chr4:674328-674329	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs538213827	chr4:674335-674336	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs73792337	chr4:674336-674337	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568550182	chr4:674341-674342	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs376244258	chr4:674350-674351	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs202132200	chr4:674355-674356	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs17853959	chr4:674371-674372	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs75817957	chr4:674373-674374	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs201376779	chr4:674386-674387	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572105459	chr4:674387-674388	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs397971441	chr4:674389-674390	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs545981600	chr4:674390-674391	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs183434067	chr4:674399-674400	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs377113361	chr4:674400-674401	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs369753150	chr4:674411-674412	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs372773220	chr4:674412-674413	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs575949561	chr4:674428-674429	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs558121750	chr4:674431-674432	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543001242	chr4:674442-674443	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs561375949	chr4:674608-674609	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528950538	chr4:674609-674610	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs112581443	chr4:674637-674638	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111954963	chr4:674671-674672	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559405944	chr4:674680-674681	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs527832623	chr4:674689-674690	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs552759390	chr4:674701-674702	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs188598484	chr4:674745-674746	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs532077952	chr4:674760-674761	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550197682	chr4:674785-674786	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs568509248	chr4:674788-674789	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373344081	chr4:674804-674805	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377299244	chr4:674839-674840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs377520069	chr4:674886-674887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201359022	chr4:674892-674893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs368752319	chr4:674919-674920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:669200-674400	Weak transcription	Fetal Lung	lung
4	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:669400-674200	Weak transcription	NH-A	brain
7	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:669400-674400	Weak transcription	Ovary	ovary
9	chr4:669400-674400	Weak transcription	Right Atrium	heart
10	chr4:669400-674600	Enhancers	Placenta	Placenta
11	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
12	chr4:669600-674200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:669600-674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:669600-674200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:669600-674200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:669600-674200	Weak transcription	Osteobl	bone
17	chr4:669600-674400	Weak transcription	Primary T cells from cord blood	blood
18	chr4:669600-674400	Weak transcription	NHLF	lung
19	chr4:669600-674600	Weak transcription	Left Ventricle	heart
20	chr4:669600-674600	Weak transcription	Small Intestine	intestine
21	chr4:669800-674200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:669800-674200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:669800-674200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:669800-674600	Weak transcription	Brain Anterior Caudate	brain
25	chr4:669800-674600	Weak transcription	Brain Substantia Nigra	brain
26	chr4:670000-674200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:670000-674600	Weak transcription	Liver	Liver
28	chr4:670200-674200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:670200-674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:670200-674600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:670400-674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:670600-674200	Weak transcription	K562	blood
33	chr4:670800-674600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:671000-674200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:671000-674200	Weak transcription	Fetal Heart	heart
36	chr4:671200-674200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:671200-674200	Weak transcription	Primary B cells from cord blood	blood
38	chr4:671200-674400	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr4:671200-674400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:672000-674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:672000-674200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:672000-674200	Weak transcription	NHDF-Ad	bronchial
43	chr4:672000-674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:672000-674400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:672000-674400	Weak transcription	Psoas Muscle	Psoas
46	chr4:672000-674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:672200-674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:672200-674400	Weak transcription	Gastric	stomach
49	chr4:672200-674600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:672400-674400	Weak transcription	Muscle Satellite Cultured Cells	--

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