Variant report

Variant	esv3338590
Chromosome Location	chr2:111876081-111880479
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	chr2:111877971-111878550	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:111878820-111879020	K562	blood:	n/a	n/a
3	ARID3A	chr2:111877899-111878357	K562	blood:	n/a	n/a
4	ARID3A	chr2:111879271-111881143	HepG2	liver:	n/a	n/a
5	BACH1	chr2:111875838-111876267	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:111879593-111879716	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:111878115-111878193	K562	blood:	n/a	n/a
8	BACH1	chr2:111877266-111877405	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:111876619-111876886	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:111879932-111879991	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:111877727-111878437	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	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
14	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
15	BHLHE40	chr2:111878069-111879121	A549	lung:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111878166-111878182
16	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
17	BHLHE40	chr2:111879962-111880477	GM12878	blood:	n/a	chr2:111880077-111880093
18	BRCA1	chr2:111877761-111878721	HepG2	liver:	n/a	chr2:111877909-111877918
19	BRCA1	chr2:111878681-111878881	GM12878	blood:	n/a	n/a
20	BRCA1	chr2:111877757-111878273	GM12878	blood:	n/a	chr2:111877909-111877918
21	BRCA1	chr2:111880441-111880867	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:111879778-111880050	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:111879378-111879392	HepG2	liver:	n/a	n/a
24	BRCA1	chr2:111878497-111878782	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr2:111877641-111878075	H1-hESC	embryonic stem cell:	n/a	chr2:111877909-111877918
26	BRCA1	chr2:111879872-111880044	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr2:111877770-111878768	Hela-S3	cervix:	n/a	chr2:111877909-111877918
28	CBX3	chr2:111879806-111880174	K562	blood:	n/a	n/a
29	CBX3	chr2:111877569-111878634	K562	blood:	n/a	n/a
30	CBX3	chr2:111878682-111879063	K562	blood:	n/a	n/a
31	CCNT2	chr2:111877550-111881017	K562	blood:	n/a	chr2:111878414-111878423
32	CEBPB	chr2:111879899-111880134	K562	blood:	n/a	chr2:111880095-111880103
33	CEBPB	chr2:111878207-111878411	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:111879621-111881073	Hela-S3	cervix:	n/a	chr2:111880095-111880103
35	CEBPB	chr2:111878014-111878863	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr2:111876603-111876802	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPD	chr2:111878146-111878789	HepG2	liver:	n/a	n/a
38	CEBPD	chr2:111877949-111878702	HepG2	liver:	n/a	n/a
39	CEBPD	chr2:111879753-111880360	HepG2	liver:	n/a	n/a
40	CHD1	chr2:111880412-111881115	GM12878	blood:	n/a	n/a
41	CHD1	chr2:111876460-111876599	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr2:111877818-111879923	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
43	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
44	CHD2	chr2:111879472-111880994	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr2:111877559-111880235	HepG2	liver:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
46	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
47	CHD2	chr2:111877721-111879379	K562	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
48	CHD2	chr2:111877705-111879159	Hela-S3	cervix:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
49	CHD2	chr2:111877596-111879005	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
50	CHD2	chr2:111879829-111880290	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111876361-111876411	AG04450	lung:	fetal
2	chr2:111876361-111876411	AG04450	lung:	fetal
3	chr2:111878479-111878529	HNPCEpiC	eye:	n/a
4	chr2:111879378-111879428	PFSK-1	brain:	n/a
5	chr2:111878294-111878344	ECC-1	luminal epithelium:	n/a
6	chr2:111880018-111880068	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:111878453-111878503	NHDF-neo	bronchial:	n/a
8	chr2:111879711-111879761	CMK	blood:	n/a
9	chr2:111878296-111878346	T-47D	breast:	n/a
10	chr2:111878453-111878503	SK-N-SH	brain:	n/a
11	chr2:111878453-111878503	HepG2	liver:	n/a
12	chr2:111877753-111877803	HEK293	kidney:	embryo
13	chr2:111877177-111877227	PFSK-1	brain:	n/a
14	chr2:111879843-111879893	NHDF-neo	bronchial:	n/a
15	chr2:111877753-111877803	HCPEpiC	choroid plexus:	n/a
16	chr2:111880018-111880068	Hepatocyte	liver:	n/a
17	chr2:111877177-111877227	BE2_C	brain:	n/a
18	chr2:111879711-111879761	HCPEpiC	choroid plexus:	n/a
19	chr2:111878481-111878531	Caco-2	colon:	n/a
20	chr2:111879378-111879428	MCF10A-Er-Src	breast:	n/a
21	chr2:111878447-111878497	ECC-1	luminal epithelium:	n/a
22	chr2:111876361-111876411	HRPEpiC	eye:	n/a
23	chr2:111879843-111879893	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:111877177-111877227	SK-N-SH_RA	brain:	n/a
25	chr2:111878447-111878497	AG09319	gingival:	n/a
26	chr2:111879843-111879893	IMR90	lung:	fetal
27	chr2:111878447-111878497	Caco-2	colon:	n/a
28	chr2:111879711-111879761	HL-60	blood:	n/a
29	chr2:111876361-111876411	HEK293	kidney:	embryo
30	chr2:111878479-111878529	HCM	heart:	n/a
31	chr2:111876361-111876411	Caco-2	colon:	n/a
32	chr2:111876361-111876411	Hela-S3	cervix:	n/a
33	chr2:111878294-111878344	ProgFib	skin:	n/a
34	chr2:111878447-111878497	BJ	skin:	n/a
35	chr2:111878481-111878531	H1-hESC	embryonic stem cell:	embryo
36	chr2:111877065-111877115	ProgFib	skin:	n/a
37	chr2:111878760-111878810	A549	lung:	n/a
38	chr2:111876752-111876802	HRE	kidney:	n/a
39	chr2:111877753-111877803	GM12891	blood:	n/a
40	chr2:111877065-111877115	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:111877177-111877227	HAEpiC	amniotic membrane:	n/a
42	chr2:111878453-111878503	AG10803	skin:	n/a
43	chr2:111879378-111879428	Hela-S3	cervix:	n/a
44	chr2:111880018-111880068	HCPEpiC	choroid plexus:	n/a
45	chr2:111879711-111879761	HRCEpiC	kidney:	n/a
46	chr2:111880018-111880068	GM12891	blood:	n/a
47	chr2:111878296-111878346	SK-N-SH_RA	brain:	n/a
48	chr2:111878453-111878503	K562	blood:	n/a
49	chr2:111877753-111877803	NHDF-neo	bronchial:	n/a
50	chr2:111879843-111879893	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111878400..111878946-chr7:25164305..25164896,2	HCT-116	colon:
2	chr1:144533704..144534633-chr2:111878333..111878839,2	Hela-S3	cervix:
3	chr2:111880097..111880707-chr6:33239744..33240317,2	HCT-116	colon:
4	chr2:111878015..111878894-chr21:30391308..30391895,2	Hela-S3	cervix:
5	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:
6	chr17:39845098..39845687-chr2:111878260..111879017,2	Hela-S3	cervix:
7	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
8	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:
9	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
10	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
11	chr11:75273124..75273774-chr2:111879874..111880766,2	NB4	blood:
12	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
13	chr19:58897967..58899180-chr2:111878320..111878941,3	HCT-116	colon:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	TF binding region
BCL2L11	CpG island
ENSG00000204581	CpG island
ENSG00000149257	chromatin interactions
ENSG00000172965	chromatin interactions
ENSG00000266640	chromatin interactions
ENSG00000156253	chromatin interactions
ENSG00000204581	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000087494	chromatin interactions
ENSG00000169679	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000083845	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs569245084	chr2:111876084-111876085	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539847005	chr2:111876145-111876146	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1054873	chr2:111876148-111876149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564185572	chr2:111876233-111876234	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144727984	chr2:111876329-111876330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376223702	chr2:111876351-111876352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369543983	chr2:111876413-111876414	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548829321	chr2:111876428-111876429	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs562361797	chr2:111876466-111876467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563182145	chr2:111876510-111876511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72836345	chr2:111876539-111876540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551467346	chr2:111876543-111876544	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs550273993	chr2:111876549-111876550	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184933584	chr2:111876555-111876556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534244417	chr2:111876562-111876563	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539443652	chr2:111876578-111876579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567981247	chr2:111876587-111876588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146357254	chr2:111876609-111876610	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs72836346	chr2:111876613-111876614	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs528295582	chr2:111876627-111876628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539225800	chr2:111876648-111876649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557884597	chr2:111876672-111876673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs577644805	chr2:111876673-111876674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540259539	chr2:111876722-111876723	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7577824	chr2:111876763-111876764	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573272343	chr2:111876765-111876766	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542514348	chr2:111876768-111876769	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562400689	chr2:111876798-111876799	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs531440353	chr2:111876800-111876801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs372400415	chr2:111876820-111876821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs551282337	chr2:111876846-111876847	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565405198	chr2:111876864-111876865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs138982459	chr2:111876892-111876893	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547843325	chr2:111876910-111876911	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567556421	chr2:111876913-111876914	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7593638	chr2:111876941-111876942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550535664	chr2:111876965-111876966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111635598	chr2:111877007-111877008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs370643210	chr2:111877033-111877034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372814470	chr2:111877050-111877051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570364194	chr2:111877066-111877067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs143006873	chr2:111877072-111877073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs56952027	chr2:111877104-111877105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566231855	chr2:111877148-111877149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs533671253	chr2:111877170-111877171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs386649170	chr2:111877174-111877175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs73954926	chr2:111877175-111877176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189312632	chr2:111877196-111877197	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs4848393	chr2:111877297-111877298	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)	LD-proxies of rSNP Overlapped rCNV	n/a
50	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

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:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111876200	Active TSS	Brain Anterior Caudate	brain
2	chr2:111874400-111876600	Bivalent Enhancer	Fetal Heart	heart
3	chr2:111874400-111876800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:111874400-111877800	Enhancers	Spleen	Spleen
5	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:111874600-111876200	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr2:111874600-111876800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
9	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
10	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
12	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:111874800-111876200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:111874800-111876200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:111874800-111876400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
20	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
21	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
22	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
26	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
29	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
34	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:111875000-111876200	Active TSS	NHDF-Ad	bronchial
37	chr2:111875000-111876400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:111875000-111876800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:111875000-111877000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:111875200-111876200	Flanking Active TSS	NH-A	brain
44	chr2:111875200-111876400	Active TSS	Brain Angular Gyrus	brain
45	chr2:111875200-111876400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr2:111875200-111877200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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