Variant report

Variant	nsv829618
Chromosome Location	chr2:111875627-111881547
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	chr2:111879271-111881143	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:111878820-111879020	K562	blood:	n/a	n/a
4	ARID3A	chr2:111877899-111878357	K562	blood:	n/a	n/a
5	ATF2	chr2:111880664-111881048	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:111880539-111880933	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:111877266-111877405	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:111878115-111878193	K562	blood:	n/a	n/a
9	BACH1	chr2:111879932-111879991	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:111876619-111876886	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:111877727-111878437	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:111879593-111879716	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:111875838-111876267	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	BHLHE40	chr2:111879962-111880477	GM12878	blood:	n/a	chr2:111880077-111880093
16	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
17	BHLHE40	chr2:111880812-111880947	GM12878	blood:	n/a	n/a
18	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
19	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
20	BHLHE40	chr2:111878069-111879121	A549	lung:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111878166-111878182
21	BRCA1	chr2:111880652-111880757	HepG2	liver:	n/a	n/a
22	BRCA1	chr2:111875596-111875684	GM12878	blood:	n/a	n/a
23	BRCA1	chr2:111877770-111878768	Hela-S3	cervix:	n/a	chr2:111877909-111877918
24	BRCA1	chr2:111877757-111878273	GM12878	blood:	n/a	chr2:111877909-111877918
25	BRCA1	chr2:111877641-111878075	H1-hESC	embryonic stem cell:	n/a	chr2:111877909-111877918
26	BRCA1	chr2:111878681-111878881	GM12878	blood:	n/a	n/a
27	BRCA1	chr2:111880441-111880867	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr2:111875727-111875884	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr2:111879778-111880050	HepG2	liver:	n/a	n/a
30	BRCA1	chr2:111879378-111879392	HepG2	liver:	n/a	n/a
31	BRCA1	chr2:111878497-111878782	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr2:111880680-111881095	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr2:111879872-111880044	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr2:111877761-111878721	HepG2	liver:	n/a	chr2:111877909-111877918
35	CBX3	chr2:111878682-111879063	K562	blood:	n/a	n/a
36	CBX3	chr2:111879806-111880174	K562	blood:	n/a	n/a
37	CBX3	chr2:111877569-111878634	K562	blood:	n/a	n/a
38	CCNT2	chr2:111877550-111881017	K562	blood:	n/a	chr2:111878414-111878423
39	CEBPB	chr2:111878014-111878863	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:111875474-111875880	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr2:111880565-111881015	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:111879899-111880134	K562	blood:	n/a	chr2:111880095-111880103
43	CEBPB	chr2:111878207-111878411	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:111880577-111881059	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:111876603-111876802	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr2:111875100-111876047	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr2:111879621-111881073	Hela-S3	cervix:	n/a	chr2:111880095-111880103
48	CEBPD	chr2:111878146-111878789	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:111879753-111880360	HepG2	liver:	n/a	n/a
50	CEBPD	chr2:111877949-111878702	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111879843-111879893	AG09319	gingival:	n/a
2	chr2:111881075-111881125	AG10803	skin:	n/a
3	chr2:111876008-111876058	SK-N-SH	brain:	n/a
4	chr2:111878296-111878346	NH-A	brain:	n/a
5	chr2:111876752-111876802	ProgFib	skin:	n/a
6	chr2:111875934-111875984	HepG2	liver:	n/a
7	chr2:111875858-111875908	SK-N-SH	brain:	n/a
8	chr2:111878453-111878503	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:111875749-111875799	HL-60	blood:	n/a
10	chr2:111879843-111879893	IMR90	lung:	fetal
11	chr2:111877177-111877227	AG10803	skin:	n/a
12	chr2:111875749-111875799	MCF10A-Er-Src	breast:	n/a
13	chr2:111875858-111875908	AG09309	skin:	n/a
14	chr2:111881075-111881125	HCM	heart:	n/a
15	chr2:111876752-111876802	A549	lung:	n/a
16	chr2:111878091-111878141	HL-60	blood:	n/a
17	chr2:111875790-111875840	HIPEpiC	eye:	n/a
18	chr2:111880018-111880068	A549	lung:	n/a
19	chr2:111877065-111877115	RPTEC	kidney:	n/a
20	chr2:111880006-111880056	HRE	kidney:	n/a
21	chr2:111878296-111878346	HRE	kidney:	n/a
22	chr2:111877177-111877227	Hepatocyte	liver:	n/a
23	chr2:111877753-111877803	MCF10A-Er-Src	breast:	n/a
24	chr2:111876361-111876411	SK-N-MC	brain:	n/a
25	chr2:111878447-111878497	HNPCEpiC	eye:	n/a
26	chr2:111879378-111879428	NHBE	bronchial:	n/a
27	chr2:111877065-111877115	ovcar-3	ovarian:	n/a
28	chr2:111879711-111879761	NHDF-neo	bronchial:	n/a
29	chr2:111876008-111876058	LNCaP	prostate:	n/a
30	chr2:111875858-111875908	BJ	skin:	n/a
31	chr2:111879378-111879428	SAEC	small airway:	n/a
32	chr2:111878479-111878529	U87	brain:	n/a
33	chr2:111875749-111875799	Caco-2	colon:	n/a
34	chr2:111879711-111879761	PFSK-1	brain:	n/a
35	chr2:111878294-111878344	MCF10A-Er-Src	breast:	n/a
36	chr2:111880018-111880068	HCM	heart:	n/a
37	chr2:111880018-111880068	HCF	heart:	n/a
38	chr2:111875749-111875799	SKMC	muscle:	n/a
39	chr2:111878479-111878529	H1-hESC	embryonic stem cell:	embryo
40	chr2:111880006-111880056	Caco-2	colon:	n/a
41	chr2:111879378-111879428	IMR90	lung:	fetal
42	chr2:111876361-111876411	ProgFib	skin:	n/a
43	chr2:111880964-111881014	SK-N-SH	brain:	n/a
44	chr2:111880006-111880056	H1-hESC	embryonic stem cell:	embryo
45	chr2:111877065-111877115	NB4	blood:	n/a
46	chr2:111878294-111878344	AG10803	skin:	n/a
47	chr2:111880964-111881014	HL-60	blood:	n/a
48	chr2:111878447-111878497	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:111879711-111879761	AoSMC	blood vessel:	n/a
50	chr2:111879843-111879893	NHBE	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	chr19:58897967..58899180-chr2:111878320..111878941,3	HCT-116	colon:
4	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:
5	chr1:144533704..144534633-chr2:111878333..111878839,2	Hela-S3	cervix:
6	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
7	chr11:75273124..75273774-chr2:111879874..111880766,2	NB4	blood:
8	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
9	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
10	chr2:111878400..111878946-chr7:25164305..25164896,2	HCT-116	colon:
11	chr2:111880097..111880707-chr6:33239744..33240317,2	HCT-116	colon:
12	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:
13	chr17:39845098..39845687-chr2:111878260..111879017,2	Hela-S3	cervix:

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

Extended variants
information (count: 246 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548748325	chr2:111875660-111875661	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs367882790	chr2:111875666-111875667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs75316441	chr2:111875673-111875674	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs557800268	chr2:111875775-111875776	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs5833389	chr2:111875800-111875801	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs75129943	chr2:111875804-111875805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs2008009	chr2:111875805-111875806	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs75607327	chr2:111875810-111875811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs373055498	chr2:111875832-111875833	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs79791878	chr2:111875841-111875842	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs554489188	chr2:111875859-111875860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs551048080	chr2:111875871-111875872	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs142480538	chr2:111875903-111875904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556812338	chr2:111876004-111876005	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
15	rs576682552	chr2:111876045-111876046	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544327551	chr2:111876066-111876067	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
17	rs573477045	chr2:111876077-111876078	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111875800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:111874400-111875800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:111874400-111876000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:111874400-111876000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
5	chr2:111874400-111876200	Active TSS	Brain Anterior Caudate	brain
6	chr2:111874400-111876600	Bivalent Enhancer	Fetal Heart	heart
7	chr2:111874400-111876800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:111874400-111877800	Enhancers	Spleen	Spleen
9	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:111874600-111875800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr2:111874600-111876000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:111874600-111876000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:111874600-111876000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:111874600-111876200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr2:111874600-111876800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:111874800-111875800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:111874800-111875800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:111874800-111875800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:111874800-111875800	Flanking Active TSS	Liver	Liver
28	chr2:111874800-111875800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
29	chr2:111874800-111875800	Flanking Active TSS	Esophagus	oesophagus
30	chr2:111874800-111875800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr2:111874800-111876000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:111874800-111876000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr2:111874800-111876200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:111874800-111876200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:111874800-111876400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
42	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links