Variant report

Variant	esv3373707
Chromosome Location	chr2:111877306-111879854
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	ARID3A	chr2:111877899-111878357	K562	blood:	n/a	n/a
2	ARID3A	chr2:111877971-111878550	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:111879271-111881143	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:111878820-111879020	K562	blood:	n/a	n/a
5	BACH1	chr2:111877727-111878437	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:111878115-111878193	K562	blood:	n/a	n/a
7	BACH1	chr2:111877266-111877405	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:111879593-111879716	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr2:111877918-111878408	A549	lung:	n/a	chr2:111878285-111878298 chr2:111878166-111878179 chr2:111878164-111878177 chr2:111878169-111878182 chr2:111878302-111878315 chr2:111878167-111878180
10	BHLHE40	chr2:111877526-111880906	K562	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
11	BHLHE40	chr2:111877881-111881164	HepG2	liver:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
12	BHLHE40	chr2:111877559-111879761	GM12878	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111878166-111878182 chr2:111879143-111879159
13	BHLHE40	chr2:111878069-111879121	A549	lung:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111878166-111878182
14	BRCA1	chr2:111877761-111878721	HepG2	liver:	n/a	chr2:111877909-111877918
15	BRCA1	chr2:111879378-111879392	HepG2	liver:	n/a	n/a
16	BRCA1	chr2:111877770-111878768	Hela-S3	cervix:	n/a	chr2:111877909-111877918
17	BRCA1	chr2:111877757-111878273	GM12878	blood:	n/a	chr2:111877909-111877918
18	BRCA1	chr2:111877641-111878075	H1-hESC	embryonic stem cell:	n/a	chr2:111877909-111877918
19	BRCA1	chr2:111878497-111878782	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr2:111878681-111878881	GM12878	blood:	n/a	n/a
21	BRCA1	chr2:111879778-111880050	HepG2	liver:	n/a	n/a
22	CBX3	chr2:111878682-111879063	K562	blood:	n/a	n/a
23	CBX3	chr2:111877569-111878634	K562	blood:	n/a	n/a
24	CBX3	chr2:111879806-111880174	K562	blood:	n/a	n/a
25	CCNT2	chr2:111877550-111881017	K562	blood:	n/a	chr2:111878414-111878423
26	CEBPB	chr2:111879621-111881073	Hela-S3	cervix:	n/a	chr2:111880095-111880103
27	CEBPB	chr2:111878207-111878411	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:111878014-111878863	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr2:111878146-111878789	HepG2	liver:	n/a	n/a
30	CEBPD	chr2:111877949-111878702	HepG2	liver:	n/a	n/a
31	CEBPD	chr2:111879753-111880360	HepG2	liver:	n/a	n/a
32	CHD1	chr2:111877818-111879923	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
33	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
34	CHD2	chr2:111879472-111880994	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr2:111877608-111878849	H1-hESC	embryonic stem cell:	n/a	chr2:111878005-111878015
36	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
37	CHD2	chr2:111877596-111879005	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
38	CHD2	chr2:111877721-111879379	K562	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
39	CHD2	chr2:111879765-111880587	K562	blood:	n/a	n/a
40	CHD2	chr2:111879829-111880290	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr2:111877559-111880235	HepG2	liver:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
42	CHD2	chr2:111877705-111879159	Hela-S3	cervix:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
43	CREB1	chr2:111877860-111878690	A549	lung:	n/a	n/a
44	CREB1	chr2:111879850-111880518	A549	lung:	n/a	n/a
45	CREB1	chr2:111877698-111881135	HepG2	liver:	n/a	n/a
46	CREB1	chr2:111878014-111878911	K562	blood:	n/a	n/a
47	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:111878020-111878170	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr2:111878030-111878249	A549	lung:	n/a	n/a
50	CTCF	chr2:111878820-111878970	GM12875	blood:	n/a	chr2:111878831-111878849 chr2:111878899-111878912

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111878479-111878529	Jurkat	blood:	n/a
2	chr2:111878294-111878344	HEEpiC	esophagus:	n/a
3	chr2:111878091-111878141	ECC-1	luminal epithelium:	n/a
4	chr2:111878447-111878497	RPTEC	kidney:	n/a
5	chr2:111878447-111878497	HL-60	blood:	n/a
6	chr2:111878481-111878531	Jurkat	blood:	n/a
7	chr2:111879711-111879761	AG04449	skin:	fetal
8	chr2:111878447-111878497	HMEC	breast:	n/a
9	chr2:111878453-111878503	AG09319	gingival:	n/a
10	chr2:111879711-111879761	PrEC	prostate:	n/a
11	chr2:111878091-111878141	NB4	blood:	n/a
12	chr2:111878760-111878810	HL-60	blood:	n/a
13	chr2:111878294-111878344	AG09319	gingival:	n/a
14	chr2:111878091-111878141	HEK293	kidney:	embryo
15	chr2:111878481-111878531	SK-N-SH_RA	brain:	n/a
16	chr2:111878447-111878497	U87	brain:	n/a
17	chr2:111878760-111878810	PrEC	prostate:	n/a
18	chr2:111878481-111878531	LNCaP	prostate:	n/a
19	chr2:111879843-111879893	SK-N-MC	brain:	n/a
20	chr2:111878479-111878529	MCF10A-Er-Src	breast:	n/a
21	chr2:111878091-111878141	SKMC	muscle:	n/a
22	chr2:111879843-111879893	MCF-7	breast:	n/a
23	chr2:111877753-111877803	RPTEC	kidney:	n/a
24	chr2:111877753-111877803	HCM	heart:	n/a
25	chr2:111877753-111877803	HAEpiC	amniotic membrane:	n/a
26	chr2:111878481-111878531	GM12878	blood:	n/a
27	chr2:111879378-111879428	HRE	kidney:	n/a
28	chr2:111878479-111878529	ECC-1	luminal epithelium:	n/a
29	chr2:111878091-111878141	SK-N-SH_RA	brain:	n/a
30	chr2:111878294-111878344	MCF10A-Er-Src	breast:	n/a
31	chr2:111878091-111878141	BE2_C	brain:	n/a
32	chr2:111878296-111878346	HRCEpiC	kidney:	n/a
33	chr2:111879711-111879761	GM06990	blood:	n/a
34	chr2:111877753-111877803	MCF10A-Er-Src	breast:	n/a
35	chr2:111879843-111879893	HCPEpiC	choroid plexus:	n/a
36	chr2:111878453-111878503	NB4	blood:	n/a
37	chr2:111878453-111878503	HepG2	liver:	n/a
38	chr2:111879378-111879428	PrEC	prostate:	n/a
39	chr2:111878760-111878810	GM12891	blood:	n/a
40	chr2:111878091-111878141	HCT-116	colon:	n/a
41	chr2:111878479-111878529	MCF-7	breast:	n/a
42	chr2:111878481-111878531	Hela-S3	cervix:	n/a
43	chr2:111878481-111878531	GM12892	blood:	n/a
44	chr2:111878481-111878531	HepG2	liver:	n/a
45	chr2:111878294-111878344	HRE	kidney:	n/a
46	chr2:111879843-111879893	SKMC	muscle:	n/a
47	chr2:111879711-111879761	CMK	blood:	n/a
48	chr2:111878091-111878141	Hepatocyte	liver:	n/a
49	chr2:111878296-111878346	BJ	skin:	n/a
50	chr2:111878091-111878141	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
2	chr2:111878015..111878894-chr21:30391308..30391895,2	Hela-S3	cervix:
3	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
4	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:
5	chr17:39845098..39845687-chr2:111878260..111879017,2	Hela-S3	cervix:
6	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
7	chr19:58897967..58899180-chr2:111878320..111878941,3	HCT-116	colon:
8	chr1:144533704..144534633-chr2:111878333..111878839,2	Hela-S3	cervix:
9	chr2:111878400..111878946-chr7:25164305..25164896,2	HCT-116	colon:
10	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
11	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	TF binding region
BCL2L11	CpG island
ENSG00000204581	CpG island
ENSG00000201699	chromatin interactions
ENSG00000156253	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000172965	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000169679	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000266640	chromatin interactions
ENSG00000087494	chromatin interactions
ENSG00000204581	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575908817	chr2:111877307-111877308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs545221709	chr2:111877323-111877324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564947613	chr2:111877334-111877335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs527435390	chr2:111877336-111877337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541177055	chr2:111877339-111877340	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11378324	chr2:111877346-111877347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs397955140	chr2:111877350-111877351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs561358692	chr2:111877360-111877361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs370908336	chr2:111877455-111877456	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60286362	chr2:111877493-111877494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550179581	chr2:111877530-111877531	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs115894111	chr2:111877583-111877584	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs532874659	chr2:111877657-111877658	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs552810241	chr2:111877674-111877675	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs566143546	chr2:111877684-111877685	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs143165611	chr2:111877730-111877731	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs111736126	chr2:111877744-111877745	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs567016360	chr2:111877777-111877778	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs535872705	chr2:111877786-111877787	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs555723596	chr2:111877790-111877791	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575596897	chr2:111877793-111877794	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs544979009	chr2:111877800-111877801	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs575790002	chr2:111877829-111877830	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs13416333	chr2:111877890-111877891	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552100882	chr2:111877907-111877908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs148278076	chr2:111877924-111877925	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs561399217	chr2:111877977-111877978	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs567033218	chr2:111877986-111877987	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs61016769	chr2:111877989-111877990	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368287430	chr2:111878050-111878051	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs543903353	chr2:111878076-111878077	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs62163309	chr2:111878099-111878100	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371892145	chr2:111878110-111878111	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532487632	chr2:111878209-111878210	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs7582030	chr2:111878227-111878228	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566350945	chr2:111878228-111878229	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs528724820	chr2:111878246-111878247	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs13009247	chr2:111878263-111878264	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs548352040	chr2:111878301-111878302	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs567057433	chr2:111878337-111878338	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs535956585	chr2:111878350-111878351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs549436373	chr2:111878372-111878373	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs569320089	chr2:111878379-111878380	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs538620883	chr2:111878392-111878393	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs558625811	chr2:111878440-111878441	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs572283608	chr2:111878446-111878447	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs534552174	chr2:111878448-111878449	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs554823151	chr2:111878512-111878513	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs575413492	chr2:111878557-111878558	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs1439286	chr2:111878562-111878563	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111877800	Enhancers	Spleen	Spleen
2	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
9	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
10	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
11	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
22	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr2:111875400-111877400	Weak transcription	HepG2	liver
33	chr2:111875400-111877800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
34	chr2:111875400-111878000	Weak transcription	Aorta	Aorta
35	chr2:111875400-111878000	Bivalent Enhancer	Fetal Lung	lung
36	chr2:111875600-111877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:111875600-111877800	Weak transcription	Ovary	ovary
38	chr2:111875600-111877800	Weak transcription	HSMMtube	muscle
39	chr2:111875600-111878000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
42	chr2:111875800-111877400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr2:111875800-111877400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:111875800-111877400	Weak transcription	HMEC	breast
45	chr2:111875800-111877600	Weak transcription	HSMM	muscle
46	chr2:111876000-111877800	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr2:111876000-111878000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr2:111876200-111877400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:111876200-111877400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr2:111876200-111877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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