Variant report

Variant	rs11119783
Chromosome Location	chr1:211812772-211812773
allele	A/G
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	JUND	chr1:211812704-211813688	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:211812726-211813814	SK-N-SH	brain:	n/a	chr1:211812943-211812953
3	GATA3	chr1:211812665-211813937	SK-N-SH	brain:	n/a	n/a
4	TFAP2C	chr1:211811691-211813538	Hela-S3	cervix:	n/a	n/a
5	GTF3C2	chr1:211811970-211813137	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:211811877-211813893	Hela-S3	cervix:	n/a	n/a
7	USF2	chr1:211812736-211813650	Hela-S3	cervix:	n/a	n/a
8	RXRA	chr1:211812743-211813620	SK-N-SH	brain:	n/a	n/a
9	FOS	chr1:211812750-211813505	MCF10A-Er-Src	breast:	n/a	n/a
10	PBX3	chr1:211812758-211813716	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:211812739-211812785	Hela-S3	cervix:	n/a	n/a
12	JUN	chr1:211812767-211814123	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:211812662-211813953	Hela-S3	cervix:	n/a	n/a
14	RPC155	chr1:211812253-211813044	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr1:211812732-211813620	Hela-S3	cervix:	n/a	n/a
16	MAX	chr1:211812766-211813638	SK-N-SH	brain:	n/a	n/a
17	STAT3	chr1:211812741-211813490	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr1:211812751-211813737	SK-N-SH	brain:	n/a	n/a
19	YY1	chr1:211812734-211813525	SK-N-SH	brain:	n/a	n/a
20	RFX5	chr1:211811963-211813884	Hela-S3	cervix:	n/a	chr1:211812995-211813010
21	GTF2F1	chr1:211812762-211813833	Hela-S3	cervix:	n/a	n/a
22	TCF7L2	chr1:211811803-211813778	Hela-S3	cervix:	n/a	chr1:211812465-211812474
23	JUND	chr1:211812735-211813830	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr1:211812736-211813915	SK-N-SH	brain:	n/a	n/a
25	MAX	chr1:211812738-211813854	Hela-S3	cervix:	n/a	n/a
26	TCF12	chr1:211812686-211813768	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr1:211812752-211813640	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr1:211812720-211813628	PFSK-1	brain:	n/a	n/a
29	JUND	chr1:211812758-211813607	SK-N-SH	brain:	n/a	n/a
30	FOSL2	chr1:211812697-211813631	SK-N-SH	brain:	n/a	n/a
31	NFIC	chr1:211812685-211813794	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:211811726-211814344	Hela-S3	cervix:	n/a	n/a
33	PBX3	chr1:211812693-211813673	SK-N-SH	brain:	n/a	n/a
34	STAT3	chr1:211812760-211813407	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr1:211812675-211813675	HUVEC	blood vessel:	n/a	n/a
36	RXRA	chr1:211812677-211813702	SK-N-SH	brain:	n/a	n/a
37	TFAP2A	chr1:211811767-211813439	Hela-S3	cervix:	n/a	chr1:211812131-211812146
38	TEAD4	chr1:211812678-211813682	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr1:211812654-211813637	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:211812748-211813535	U87	brain:	n/a	n/a
41	RCOR1	chr1:211811915-211813863	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:211812734-211813703	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:

Variant related genes	Relation type
ENSG00000227764	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10158305	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158307	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158309	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158749	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158790	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158874	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10159253	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863919	0.80[EUR][1000 genomes]
rs10863920	0.82[EUR][1000 genomes]
rs11119785	0.92[ASN][1000 genomes]
rs11119786	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576789	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11577255	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12142250	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12734494	0.90[ASN][1000 genomes]
rs12744873	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12758005	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1373293	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34451435	0.92[ASN][1000 genomes]
rs35531215	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4245741	0.82[EUR][1000 genomes]
rs6669878	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6693364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551699	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
4	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
5	chr1:211807000-211816200	Weak transcription	Ovary	ovary
6	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
7	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
11	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
12	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
13	chr1:211809400-211813000	Enhancers	A549	lung
14	chr1:211809800-211813000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:211810200-211813000	Weak transcription	HSMM	muscle
16	chr1:211810600-211816400	Weak transcription	Spleen	Spleen
17	chr1:211811200-211813600	Enhancers	Placenta	Placenta
18	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
19	chr1:211811600-211813000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:211811600-211813000	Enhancers	HepG2	liver
21	chr1:211811600-211815000	Enhancers	Liver	Liver
22	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
23	chr1:211811800-211814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:211812000-211813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:211812000-211813000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:211812000-211813000	Enhancers	HUVEC	blood vessel
27	chr1:211812000-211813000	Enhancers	NHLF	lung
28	chr1:211812000-211813000	Enhancers	Osteobl	bone
29	chr1:211812000-211813200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:211812000-211813200	Enhancers	HMEC	breast
31	chr1:211812000-211813800	Enhancers	NHDF-Ad	bronchial
32	chr1:211812000-211814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:211812000-211814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:211812200-211813000	Enhancers	NH-A	brain
35	chr1:211812200-211813400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:211812400-211812800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:211812400-211816600	Weak transcription	Adipose Nuclei	Adipose
38	chr1:211812600-211812800	Active TSS	Hela-S3	cervix
39	chr1:211812600-211816600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links