Variant report

Variant	esv3327951
Chromosome Location	chr2:191272332-191274880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:191273173-191273696	GM12878	blood:	n/a	chr2:191273281-191273290 chr2:191273215-191273224 chr2:191273210-191273223 chr2:191273494-191273507 chr2:191273216-191273229 chr2:191273197-191273210
2	BCLAF1	chr2:191273246-191273858	GM12878	blood:	n/a	chr2:191273281-191273290 chr2:191273494-191273507
3	BCLAF1	chr2:191272093-191273052	GM12878	blood:	n/a	chr2:191272794-191272807 chr2:191272840-191272853 chr2:191272839-191272848 chr2:191272842-191272851
4	BHLHE40	chr2:191272422-191272635	K562	blood:	n/a	n/a
5	BHLHE40	chr2:191272901-191272905	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:191273289-191273927	GM12878	blood:	n/a	chr2:191273585-191273601 chr2:191273596-191273612
7	BHLHE40	chr2:191273182-191273625	K562	blood:	n/a	chr2:191273191-191273207 chr2:191273585-191273601 chr2:191273596-191273612
8	BRCA1	chr2:191273583-191273921	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr2:191272415-191272480	GM12878	blood:	n/a	n/a
10	CCNT2	chr2:191272544-191273784	K562	blood:	n/a	chr2:191273359-191273368 chr2:191272946-191272955
11	CEBPB	chr2:191273396-191273640	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr2:191273211-191273929	GM12878	blood:	n/a	chr2:191273557-191273564
13	CHD1	chr2:191272470-191272656	H1-hESC	embryonic stem cell:	n/a	chr2:191272599-191272606
14	CHD1	chr2:191273184-191273411	H1-hESC	embryonic stem cell:	n/a	chr2:191273186-191273196
15	CHD1	chr2:191272457-191272524	GM12878	blood:	n/a	n/a
16	CHD1	chr2:191272789-191272942	GM12878	blood:	n/a	n/a
17	CHD2	chr2:191273365-191273883	GM12878	blood:	n/a	chr2:191273557-191273564
18	CHD2	chr2:191272823-191272939	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:191273356-191273731	Hela-S3	cervix:	n/a	chr2:191273557-191273564
20	CHD2	chr2:191272420-191273079	GM12878	blood:	n/a	chr2:191272599-191272606
21	CHD2	chr2:191273329-191273447	K562	blood:	n/a	n/a
22	CREB1	chr2:191273331-191273784	HepG2	liver:	n/a	n/a
23	CREB1	chr2:191273231-191273843	GM12878	blood:	n/a	n/a
24	CREB1	chr2:191272643-191273759	A549	lung:	n/a	n/a
25	CTBP2	chr2:191272413-191273830	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr2:191273560-191273710	GM12865	blood:	n/a	n/a
27	CTCF	chr2:191272740-191272890	HRPEpiC	eye:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
28	CTCF	chr2:191272864-191272973	GM10266	blood:	n/a	chr2:191272864-191272877
29	CTCF	chr2:191272880-191273030	GM12868	blood:	n/a	chr2:191272987-191273000
30	CTCF	chr2:191272840-191272990	GM12878	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
31	CTCF	chr2:191273400-191273550	SAEC	small airway:	n/a	n/a
32	CTCF	chr2:191272747-191272983	H1-hESC	embryonic stem cell:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
33	CTCF	chr2:191272737-191272984	K562	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
34	CTCF	chr2:191272840-191272990	SAEC	small airway:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
35	CTCF	chr2:191273520-191273670	GM12869	blood:	n/a	n/a
36	CTCF	chr2:191272817-191273040	MCF-7	breast:	n/a	chr2:191272864-191272877 chr2:191272987-191273000 chr2:191272847-191272860
37	CTCF	chr2:191273360-191273510	HMEC	breast:	n/a	n/a
38	CTCF	chr2:191272854-191272987	LNCaP	prostate:	n/a	chr2:191272864-191272877
39	CTCF	chr2:191273340-191273490	AG04449	skin:	n/a	n/a
40	CTCF	chr2:191272849-191273007	GM12892	blood:	n/a	chr2:191272864-191272877 chr2:191272987-191273000
41	CTCF	chr2:191272840-191272990	GM12864	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
42	CTCF	chr2:191272957-191272960	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:191273489-191273492	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr2:191273480-191273510	GM19239	blood:	n/a	n/a
45	CTCF	chr2:191272760-191272910	GM12865	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
46	CTCF	chr2:191272844-191272848	GM12892	blood:	n/a	n/a
47	CTCF	chr2:191273800-191273950	GM12872	blood:	n/a	n/a
48	CTCF	chr2:191273493-191273574	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr2:191273427-191273533	Fibrobl	skin:	n/a	n/a
50	CTCF	chr2:191272860-191273010	GM06990	blood:	n/a	chr2:191272864-191272877 chr2:191272987-191273000

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191272731-191272781	K562	blood:	n/a
2	chr2:191273734-191273784	HCF	heart:	n/a
3	chr2:191272604-191272654	HCPEpiC	choroid plexus:	n/a
4	chr2:191272731-191272781	ProgFib	skin:	n/a
5	chr2:191273670-191273720	SKMC	muscle:	n/a
6	chr2:191273000-191273050	K562	blood:	n/a
7	chr2:191273670-191273720	HCPEpiC	choroid plexus:	n/a
8	chr2:191273670-191273720	T-47D	breast:	n/a
9	chr2:191272731-191272781	GM12892	blood:	n/a
10	chr2:191272731-191272781	SK-N-MC	brain:	n/a
11	chr2:191273670-191273720	MCF10A-Er-Src	breast:	n/a
12	chr2:191273491-191273541	LNCaP	prostate:	n/a
13	chr2:191273734-191273784	GM12892	blood:	n/a
14	chr2:191272731-191272781	SAEC	small airway:	n/a
15	chr2:191273491-191273541	SK-N-MC	brain:	n/a
16	chr2:191273000-191273050	LNCaP	prostate:	n/a
17	chr2:191272697-191272747	SKMC	muscle:	n/a
18	chr2:191273491-191273541	PFSK-1	brain:	n/a
19	chr2:191272731-191272781	SK-N-SH	brain:	n/a
20	chr2:191273491-191273541	HCPEpiC	choroid plexus:	n/a
21	chr2:191273670-191273720	Jurkat	blood:	n/a
22	chr2:191272604-191272654	HL-60	blood:	n/a
23	chr2:191273734-191273784	SK-N-SH_RA	brain:	n/a
24	chr2:191273670-191273720	HepG2	liver:	n/a
25	chr2:191272731-191272781	Caco-2	colon:	n/a
26	chr2:191273000-191273050	PANC-1	pancreas:	n/a
27	chr2:191273734-191273784	NHBE	bronchial:	n/a
28	chr2:191273670-191273720	HEEpiC	esophagus:	n/a
29	chr2:191272604-191272654	Jurkat	blood:	n/a
30	chr2:191272731-191272781	HUVEC	blood vessel:	n/a
31	chr2:191272604-191272654	HRE	kidney:	n/a
32	chr2:191272731-191272781	PFSK-1	brain:	n/a
33	chr2:191272731-191272781	MCF-7	breast:	n/a
34	chr2:191272697-191272747	HCF	heart:	n/a
35	chr2:191273000-191273050	GM12878	blood:	n/a
36	chr2:191273734-191273784	HL-60	blood:	n/a
37	chr2:191272604-191272654	GM12878	blood:	n/a
38	chr2:191272604-191272654	MCF-7	breast:	n/a
39	chr2:191272697-191272747	HNPCEpiC	eye:	n/a
40	chr2:191272604-191272654	SK-N-MC	brain:	n/a
41	chr2:191272604-191272654	SK-N-SH	brain:	n/a
42	chr2:191273000-191273050	AG09309	skin:	n/a
43	chr2:191273491-191273541	GM06990	blood:	n/a
44	chr2:191273491-191273541	HCF	heart:	n/a
45	chr2:191273670-191273720	PFSK-1	brain:	n/a
46	chr2:191272697-191272747	AG09319	gingival:	n/a
47	chr2:191273491-191273541	K562	blood:	n/a
48	chr2:191273000-191273050	HAEpiC	amniotic membrane:	n/a
49	chr2:191273000-191273050	Hepatocyte	liver:	n/a
50	chr2:191273000-191273050	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr2:191232283..191235106-chr2:191272706..191274515,2	MCF-7	breast:
2	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:
3	chr2:191272262..191274939-chr2:191333629..191335814,2	MCF-7	breast:
4	chr15:60689275..60690120-chr2:191273278..191273855,2	Hela-S3	cervix:
5	chr2:191207151..191209417-chr2:191272894..191274824,2	MCF-7	breast:
6	chr2:191273486..191274213-chr6:16140035..16140936,2	Hela-S3	cervix:
7	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:
8	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:
9	chr16:67280436..67281099-chr2:191273288..191273988,2	Hela-S3	cervix:
10	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
11	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region
MFSD6	CpG island
ENSG00000189362	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000151689	chromatin interactions
ENSG00000198130	chromatin interactions
ENSG00000233654	chromatin interactions
ENSG00000135740	chromatin interactions
ENSG00000151690	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563706430	chr2:191272366-191272367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs562272398	chr2:191272392-191272393	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531154051	chr2:191272544-191272545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs551718422	chr2:191272642-191272643	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552216687	chr2:191272655-191272656	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs564248355	chr2:191272679-191272680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs528420676	chr2:191272681-191272682	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs71027218	chr2:191272698-191272699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs71426861	chr2:191272708-191272709	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs537248516	chr2:191272723-191272724	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs546586383	chr2:191272745-191272746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs568482682	chr2:191272757-191272758	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs76334266	chr2:191272784-191272785	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs550874663	chr2:191272815-191272816	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs568926184	chr2:191272870-191272871	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs539630775	chr2:191272879-191272880	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs894071	chr2:191272946-191272947	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs572974438	chr2:191272961-191272962	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs138119414	chr2:191273041-191273042	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs532677765	chr2:191273048-191273049	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs533917728	chr2:191273057-191273058	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs555389862	chr2:191273110-191273111	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs894070	chr2:191273150-191273151	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs542126695	chr2:191273237-191273238	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs557648058	chr2:191273246-191273247	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs575706827	chr2:191273330-191273331	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs545988338	chr2:191273358-191273359	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs564384772	chr2:191273365-191273366	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs528554921	chr2:191273372-191273373	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs553357726	chr2:191273390-191273391	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs374314861	chr2:191273420-191273421	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs138138355	chr2:191273421-191273422	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs537291327	chr2:191273426-191273427	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs539766164	chr2:191273428-191273429	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs62180990	chr2:191273480-191273481	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs75223261	chr2:191273481-191273482	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
37	rs529304066	chr2:191273495-191273496	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs371325367	chr2:191273541-191273542	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs550561767	chr2:191273568-191273569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs569137994	chr2:191273588-191273589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs533313982	chr2:191273652-191273653	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs551595298	chr2:191273742-191273743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs566709886	chr2:191273750-191273751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs533847740	chr2:191273797-191273798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs555520392	chr2:191273800-191273801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs140911085	chr2:191273816-191273817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs550669701	chr2:191273960-191273961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs537855996	chr2:191273962-191273963	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs557323621	chr2:191273971-191273972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs575890361	chr2:191273993-191273994	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191269400-191272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:191269800-191272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:191270200-191272400	Weak transcription	Hela-S3	cervix
4	chr2:191271600-191272400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:191271600-191272600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:191271800-191272400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:191271800-191272400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:191271800-191272400	Bivalent Enhancer	HepG2	liver
9	chr2:191271800-191272800	Flanking Active TSS	Dnd41	blood
10	chr2:191271800-191273800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:191272000-191272400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr2:191272000-191272400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr2:191272000-191272400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr2:191272000-191272400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr2:191272000-191272400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr2:191272000-191272400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:191272000-191272400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:191272000-191272400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:191272000-191272400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr2:191272000-191272400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr2:191272000-191272400	Enhancers	Fetal Heart	heart
23	chr2:191272000-191272400	Flanking Active TSS	Thymus	Thymus
24	chr2:191272000-191272400	Enhancers	HMEC	breast
25	chr2:191272000-191272400	Bivalent Enhancer	NH-A	brain
26	chr2:191272000-191272600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr2:191272000-191272600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:191272000-191272600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:191272000-191272600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:191272000-191272600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr2:191272000-191272600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:191272000-191272600	Flanking Active TSS	Fetal Thymus	thymus
33	chr2:191272000-191272600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:191272000-191272800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:191272000-191272800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:191272000-191272800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:191272000-191272800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr2:191272000-191273800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:191272000-191274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:191272000-191274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:191272200-191272400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
42	chr2:191272200-191272400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:191272200-191272400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:191272200-191272400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr2:191272200-191272400	Active TSS	Primary T cells from cord blood	blood
46	chr2:191272200-191272400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:191272200-191272400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr2:191272200-191272400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:191272200-191272400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:191272200-191272400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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