Variant report

Variant	esv3404576
Chromosome Location	chr2:9769526-9772474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:701)
CpG islands
(count:672)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:9771292-9771574	K562	blood:	n/a	n/a
2	ARID3A	chr2:9770927-9771520	HepG2	liver:	n/a	n/a
3	ATF1	chr2:9771020-9771602	K562	blood:	n/a	n/a
4	ATF2	chr2:9770266-9771587	GM12878	blood:	n/a	n/a
5	ATF2	chr2:9771254-9771810	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr2:9771019-9771608	A549	lung:	n/a	n/a
7	ATF3	chr2:9771360-9771544	K562	blood:	n/a	n/a
8	ATF3	chr2:9770869-9771818	A549	lung:	n/a	n/a
9	BCL11A	chr2:9771208-9771576	GM12878	blood:	n/a	chr2:9771336-9771349 chr2:9771267-9771276
10	BCL3	chr2:9770846-9771315	A549	lung:	n/a	chr2:9771267-9771276
11	BCL3	chr2:9769440-9770655	A549	lung:	n/a	chr2:9770641-9770654
12	BCL3	chr2:9770765-9772007	A549	lung:	n/a	chr2:9771336-9771349 chr2:9771267-9771276
13	BCLAF1	chr2:9770407-9770873	GM12878	blood:	n/a	chr2:9770641-9770654 chr2:9770666-9770679
14	BCLAF1	chr2:9770883-9771641	GM12878	blood:	n/a	chr2:9771336-9771349 chr2:9771267-9771276
15	BHLHE40	chr2:9770403-9771699	HepG2	liver:	n/a	n/a
16	BHLHE40	chr2:9771273-9771567	HepG2	liver:	n/a	n/a
17	BHLHE40	chr2:9771126-9771817	A549	lung:	n/a	n/a
18	BHLHE40	chr2:9771307-9771570	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:9770205-9771903	K562	blood:	n/a	n/a
20	BHLHE40	chr2:9770032-9772032	GM12878	blood:	n/a	n/a
21	BRCA1	chr2:9771034-9771664	GM12878	blood:	n/a	n/a
22	BRCA1	chr2:9770628-9770716	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr2:9771054-9771515	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr2:9770945-9771156	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:9771008-9771581	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr2:9771084-9771673	K562	blood:	n/a	n/a
27	CBX3	chr2:9770902-9772019	K562	blood:	n/a	n/a
28	CCNT2	chr2:9770448-9771634	K562	blood:	n/a	chr2:9770670-9770679
29	CEBPB	chr2:9771024-9771678	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:9771199-9771635	K562	blood:	n/a	n/a
31	CEBPB	chr2:9771390-9771619	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:9771518-9771686	K562	blood:	n/a	n/a
33	CEBPD	chr2:9770925-9771367	HepG2	liver:	n/a	n/a
34	CEBPD	chr2:9770380-9771465	HepG2	liver:	n/a	n/a
35	CHD1	chr2:9769417-9770709	H1-hESC	embryonic stem cell:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9770267-9770277
36	CHD1	chr2:9769960-9770309	GM12878	blood:	n/a	chr2:9770267-9770277
37	CHD1	chr2:9770912-9771126	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr2:9767435-9772301	IMR90	lung:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9770267-9770277 chr2:9771258-9771268
39	CHD1	chr2:9770537-9771534	GM12878	blood:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9771258-9771268
40	CHD2	chr2:9770535-9771505	HepG2	liver:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9771258-9771268
41	CHD2	chr2:9770378-9771637	GM12878	blood:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9771258-9771268
42	CHD2	chr2:9770258-9770465	K562	blood:	n/a	chr2:9770267-9770277
43	CHD2	chr2:9770546-9771656	Hela-S3	cervix:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9771258-9771268
44	CHD2	chr2:9770699-9771672	K562	blood:	n/a	chr2:9771258-9771268
45	CHD2	chr2:9769455-9769756	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr2:9770567-9771614	H1-hESC	embryonic stem cell:	n/a	chr2:9770679-9770689 chr2:9770671-9770681 chr2:9771258-9771268
47	CREB1	chr2:9770880-9771832	GM12878	blood:	n/a	n/a
48	CREB1	chr2:9770993-9771674	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr2:9770933-9771632	A549	lung:	n/a	n/a
50	CREB1	chr2:9770926-9771715	ECC-1	luminal epithelium:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:9771089-9771139	PrEC	prostate:	n/a
2	chr2:9771089-9771139	PrEC	prostate:	n/a
3	chr2:9772375-9772425	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:9770130-9770180	Hela-S3	cervix:	n/a
5	chr2:9771142-9771192	ovcar-3	ovarian:	n/a
6	chr2:9771142-9771192	BJ	skin:	n/a
7	chr2:9771671-9771721	GM12891	blood:	n/a
8	chr2:9770130-9770180	NHDF-neo	bronchial:	n/a
9	chr2:9771190-9771240	NHDF-neo	bronchial:	n/a
10	chr2:9772375-9772425	GM06990	blood:	n/a
11	chr2:9772375-9772425	IMR90	lung:	fetal
12	chr2:9770130-9770180	H1-hESC	embryonic stem cell:	embryo
13	chr2:9770584-9770634	SK-N-SH_RA	brain:	n/a
14	chr2:9771142-9771192	HL-60	blood:	n/a
15	chr2:9770130-9770180	HCPEpiC	choroid plexus:	n/a
16	chr2:9771190-9771240	HAEpiC	amniotic membrane:	n/a
17	chr2:9772068-9772118	HMEC	breast:	n/a
18	chr2:9771347-9771397	NB4	blood:	n/a
19	chr2:9771142-9771192	BE2_C	brain:	n/a
20	chr2:9772375-9772425	SK-N-MC	brain:	n/a
21	chr2:9770529-9770579	K562	blood:	n/a
22	chr2:9770130-9770180	RPTEC	kidney:	n/a
23	chr2:9770529-9770579	SKMC	muscle:	n/a
24	chr2:9770130-9770180	SK-N-SH_RA	brain:	n/a
25	chr2:9770584-9770634	ovcar-3	ovarian:	n/a
26	chr2:9770529-9770579	HNPCEpiC	eye:	n/a
27	chr2:9771190-9771240	HRCEpiC	kidney:	n/a
28	chr2:9771089-9771139	ProgFib	skin:	n/a
29	chr2:9771190-9771240	GM12878	blood:	n/a
30	chr2:9771089-9771139	HNPCEpiC	eye:	n/a
31	chr2:9770529-9770579	PrEC	prostate:	n/a
32	chr2:9771671-9771721	AG04449	skin:	fetal
33	chr2:9771081-9771131	IMR90	lung:	fetal
34	chr2:9771081-9771131	U87	brain:	n/a
35	chr2:9771089-9771139	SKMC	muscle:	n/a
36	chr2:9771081-9771131	HCM	heart:	n/a
37	chr2:9770529-9770579	AoSMC	blood vessel:	n/a
38	chr2:9771190-9771240	NB4	blood:	n/a
39	chr2:9771081-9771131	HL-60	blood:	n/a
40	chr2:9772068-9772118	Jurkat	blood:	n/a
41	chr2:9771089-9771139	NT2-D1	testis:	n/a
42	chr2:9771081-9771131	HepG2	liver:	n/a
43	chr2:9771671-9771721	SK-N-SH_RA	brain:	n/a
44	chr2:9771142-9771192	ProgFib	skin:	n/a
45	chr2:9771142-9771192	K562	blood:	n/a
46	chr2:9770130-9770180	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:9771089-9771139	AG09309	skin:	n/a
48	chr2:9772068-9772118	HIPEpiC	eye:	n/a
49	chr2:9771089-9771139	AG09319	gingival:	n/a
50	chr2:9771089-9771139	HCF	heart:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
2	chr2:9770640..9771498-chr3:156893019..156893762,2	Hela-S3	cervix:
3	chr17:57917133..57919241-chr2:9769843..9772304,3	MCF-7	breast:
4	chr2:9562344..9563897-chr2:9768299..9770984,2	K562	blood:
5	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
6	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
7	chr2:9772257..9774601-chr2:9785690..9787486,2	K562	blood:
8	chr2:9770804..9771426-chr7:107384082..107384799,2	Hela-S3	cervix:
9	chr1:16482093..16482933-chr2:9770651..9771545,2	Hela-S3	cervix:
10	chr2:9769809..9772321-chr7:1588274..1590769,2	MCF-7	breast:
11	chr2:9767821..9771151-chr2:9909693..9912271,3	MCF-7	breast:
12	chr2:9771970..9774412-chr2:9797666..9799794,2	K562	blood:
13	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:
14	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
15	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
16	chr2:9758466..9761411-chr2:9769202..9771087,3	MCF-7	breast:
17	chr15:31618668..31619569-chr2:9770552..9771168,2	HCT-116	colon:
18	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
19	chr15:72523793..72524699-chr2:9770627..9771470,2	Hela-S3	cervix:
20	chr2:9768532..9771052-chr2:10161123..10163614,2	MCF-7	breast:
21	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
22	chr2:9693170..9697860-chr2:9768724..9771765,11	MCF-7	breast:
23	chr2:9746496..9749378-chr2:9771144..9772887,2	MCF-7	breast:
24	chr1:10092960..10093589-chr2:9770583..9771175,2	Hela-S3	cervix:
25	chr2:9772230..9774093-chr2:9892101..9894340,2	MCF-7	breast:

No data

Variant related genes	Relation type
YWHAQ	TF binding region
YWHAQ	CpG island
ENSG00000151694	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000142627	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000207086	chromatin interactions
ENSG00000240687	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000119185	chromatin interactions
ENSG00000130939	chromatin interactions
ENSG00000134317	chromatin interactions
ENSG00000243491	chromatin interactions
ENSG00000241764	chromatin interactions
ENSG00000260476	chromatin interactions
ENSG00000105879	chromatin interactions
ENSG00000243176	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000119203	chromatin interactions
ENSG00000164855	chromatin interactions
ENSG00000134308	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552226304	chr2:9769527-9769528	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs531669641	chr2:9769584-9769585	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs114363831	chr2:9769591-9769592	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs534491870	chr2:9769598-9769599	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs372515566	chr2:9769614-9769615	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs139526706	chr2:9769619-9769620	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs567776731	chr2:9769634-9769635	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs575446537	chr2:9769639-9769640	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs536752709	chr2:9769748-9769749	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs13401147	chr2:9769756-9769757	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs570392916	chr2:9769764-9769765	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs72777047	chr2:9769770-9769771	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs571438872	chr2:9769780-9769781	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs371561544	chr2:9769782-9769783	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs553547332	chr2:9769784-9769785	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs79672926	chr2:9769785-9769786	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs541602103	chr2:9769796-9769797	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs183809256	chr2:9769800-9769801	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs369522743	chr2:9769812-9769813	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs570531432	chr2:9769828-9769829	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs543977295	chr2:9769830-9769831	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs139704105	chr2:9769890-9769891	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs532430836	chr2:9769893-9769894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs34794356	chr2:9769897-9769898	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs546202439	chr2:9769913-9769914	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs539643153	chr2:9769917-9769918	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs556381883	chr2:9769942-9769943	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs559351499	chr2:9769946-9769947	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs528396693	chr2:9769979-9769980	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs111612155	chr2:9769993-9769994	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs567962081	chr2:9770033-9770034	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs13417081	chr2:9770050-9770051	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	mRNA abundance
33	rs550294970	chr2:9770060-9770061	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs542147048	chr2:9770081-9770082	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs570403921	chr2:9770094-9770095	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs539034877	chr2:9770095-9770096	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs147641429	chr2:9770122-9770123	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs566200608	chr2:9770169-9770170	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs535335896	chr2:9770170-9770171	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs555195769	chr2:9770176-9770177	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs575123175	chr2:9770225-9770226	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs368778993	chr2:9770237-9770238	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs372377118	chr2:9770259-9770260	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs375839408	chr2:9770262-9770263	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs368512939	chr2:9770266-9770267	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs369055092	chr2:9770273-9770274	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs371355879	chr2:9770281-9770282	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs369852702	chr2:9770305-9770306	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs372545955	chr2:9770311-9770312	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs199958721	chr2:9770343-9770344	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9764800-9769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:9765800-9769600	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr2:9765800-9769600	Enhancers	Small Intestine	intestine
4	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:9766400-9769600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9766800-9770600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr2:9767000-9769800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr2:9767000-9770400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:9767000-9770600	Transcr. at gene 5' and 3'	A549	lung
10	chr2:9767400-9769600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
11	chr2:9767400-9770200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr2:9767400-9770600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
13	chr2:9767600-9769600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:9767600-9769800	Transcr. at gene 5' and 3'	Fetal Lung	lung
15	chr2:9767600-9770000	Transcr. at gene 5' and 3'	HMEC	breast
16	chr2:9767800-9769600	Weak transcription	Esophagus	oesophagus
17	chr2:9767800-9769800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr2:9767800-9770600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:9767800-9771800	Active TSS	Pancreas	Pancrea
20	chr2:9768000-9769800	Weak transcription	Spleen	Spleen
21	chr2:9768000-9770200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:9768000-9771800	Active TSS	Right Ventricle	heart
23	chr2:9768200-9769600	Transcr. at gene 5' and 3'	Fetal Brain Male	brain
24	chr2:9768200-9770200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:9768200-9770400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:9768200-9770400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
27	chr2:9768400-9769600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:9768400-9769800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
29	chr2:9768400-9771400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:9768400-9771800	Active TSS	Aorta	Aorta
31	chr2:9768400-9771800	Active TSS	Left Ventricle	heart
32	chr2:9768400-9771800	Active TSS	Psoas Muscle	Psoas
33	chr2:9768400-9771800	Active TSS	Right Atrium	heart
34	chr2:9768600-9769600	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr2:9768600-9769600	Weak transcription	Gastric	stomach
36	chr2:9768600-9769600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr2:9768600-9769800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:9768600-9771600	Active TSS	HSMMtube	muscle
39	chr2:9768600-9771800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:9768600-9771800	Active TSS	Colonic Mucosa	Colon
41	chr2:9768600-9771800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:9768600-9771800	Active TSS	Ovary	ovary
43	chr2:9768800-9769600	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
44	chr2:9768800-9769600	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:9768800-9769600	Flanking Active TSS	HepG2	liver
46	chr2:9768800-9769800	Flanking Active TSS	Thymus	Thymus
47	chr2:9768800-9770000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:9768800-9770000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:9768800-9770000	Active TSS	NHDF-Ad	bronchial
50	chr2:9768800-9770200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood

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