Variant report

Variant	rs10158874
Chromosome Location	chr1:211812357-211812358
allele	C/T
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	EP300	chr1:211811992-211812500	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:211811903-211812566	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:211812182-211812478	MCF10A-Er-Src	breast:	n/a	n/a
4	TFAP2C	chr1:211811691-211813538	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:211811826-211812523	Hela-S3	cervix:	n/a	n/a
6	GTF3C2	chr1:211811970-211813137	Hela-S3	cervix:	n/a	n/a
7	SMARCC1	chr1:211811409-211812476	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:211811877-211813893	Hela-S3	cervix:	n/a	n/a
9	FOS	chr1:211812307-211812393	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr1:211812165-211812477	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr1:211812019-211812515	Hela-S3	cervix:	n/a	n/a
12	RPC155	chr1:211812253-211813044	Hela-S3	cervix:	n/a	n/a
13	E2F4	chr1:211812236-211812480	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:211812148-211812443	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:211812151-211812384	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr1:211811963-211813884	Hela-S3	cervix:	n/a	chr1:211812995-211813010
17	RAD21	chr1:211812028-211812480	Hela-S3	cervix:	n/a	n/a
18	TCF7L2	chr1:211811803-211813778	Hela-S3	cervix:	n/a	chr1:211812465-211812474
19	ELK4	chr1:211812056-211812445	Hela-S3	cervix:	n/a	n/a
20	MYC	chr1:211812085-211812493	MCF10A-Er-Src	breast:	n/a	n/a
21	TBP	chr1:211811945-211812467	Hela-S3	cervix:	n/a	n/a
22	FOS	chr1:211812216-211812447	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr1:211812013-211812479	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr1:211811991-211812491	Hela-S3	cervix:	n/a	n/a
25	MYC	chr1:211812095-211812496	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:211811726-211814344	Hela-S3	cervix:	n/a	n/a
27	SMARCC2	chr1:211811895-211812455	Hela-S3	cervix:	n/a	n/a
28	FOS	chr1:211812068-211812473	MCF10A-Er-Src	breast:	n/a	n/a
29	GTF2F1	chr1:211811976-211812483	Hela-S3	cervix:	n/a	n/a
30	FOS	chr1:211812130-211812505	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr1:211811829-211812524	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr1:211812168-211812472	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:211811859-211812520	Hela-S3	cervix:	n/a	n/a
34	TFAP2A	chr1:211811767-211813439	Hela-S3	cervix:	n/a	chr1:211812131-211812146
35	MAX	chr1:211811920-211812524	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr1:211811985-211812504	Hela-S3	cervix:	n/a	n/a
37	USF2	chr1:211811857-211812458	Hela-S3	cervix:	n/a	n/a
38	RCOR1	chr1:211811915-211813863	Hela-S3	cervix:	n/a	n/a
39	MYC	chr1:211811924-211812550	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr1:211811977-211812437	Hela-S3	cervix:	n/a	n/a
41	ZKSCAN1	chr1:211811969-211812424	Hela-S3	cervix:	n/a	n/a
42	MAX	chr1:211811899-211812518	Hela-S3	cervix:	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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10158305	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779564	0.84[EUR][1000 genomes]
rs10779565	0.85[EUR][1000 genomes]
rs10779566	0.85[EUR][1000 genomes]
rs10863919	0.86[EUR][1000 genomes]
rs10863920	0.85[EUR][1000 genomes]
rs11119780	0.84[EUR][1000 genomes]
rs11119783	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119784	0.84[AMR][1000 genomes]
rs11119785	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119786	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119787	0.81[EUR][1000 genomes]
rs11576789	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11577255	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123429	0.83[EUR][1000 genomes]
rs12142250	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727505	0.82[EUR][1000 genomes]
rs12734494	0.92[ASN][1000 genomes]
rs12741252	0.82[EUR][1000 genomes]
rs12744873	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12758005	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1373293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451435	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35531215	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4245741	0.85[EUR][1000 genomes]
rs4951416	0.82[EUR][1000 genomes]
rs4951418	0.82[EUR][1000 genomes]
rs4951419	0.83[EUR][1000 genomes]
rs4951421	0.82[EUR][1000 genomes]
rs4951539	0.83[EUR][1000 genomes]
rs61851777	0.84[EUR][1000 genomes]
rs6540698	0.84[EUR][1000 genomes]
rs6669878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670986	0.85[EUR][1000 genomes]
rs6671497	0.85[EUR][1000 genomes]
rs6671506	0.83[EUR][1000 genomes]
rs6693364	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7513348	0.82[EUR][1000 genomes]
rs7523748	0.82[EUR][1000 genomes]
rs7551699	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs894853	0.84[EUR][1000 genomes]
rs894854	0.84[EUR][1000 genomes]
rs894855	0.84[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	chr1:211811400-211812600	Flanking Active TSS	Hela-S3	cervix
19	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
20	chr1:211811600-211812600	Enhancers	Esophagus	oesophagus
21	chr1:211811600-211813000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:211811600-211813000	Enhancers	HepG2	liver
23	chr1:211811600-211815000	Enhancers	Liver	Liver
24	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
25	chr1:211811800-211814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:211812000-211812400	Enhancers	Adipose Nuclei	Adipose
27	chr1:211812000-211813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:211812000-211813000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:211812000-211813000	Enhancers	HUVEC	blood vessel
30	chr1:211812000-211813000	Enhancers	NHLF	lung
31	chr1:211812000-211813000	Enhancers	Osteobl	bone
32	chr1:211812000-211813200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:211812000-211813200	Enhancers	HMEC	breast
34	chr1:211812000-211813800	Enhancers	NHDF-Ad	bronchial
35	chr1:211812000-211814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:211812000-211814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:211812200-211812400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:211812200-211813000	Enhancers	NH-A	brain
39	chr1:211812200-211813400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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