Variant report

Variant	rs3912318
Chromosome Location	chr8:130799184-130799185
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	FOS	chr8:130798758-130800148	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
2	CEBPB	chr8:130799139-130799658	A549	lung:	n/a	chr8:130799436-130799447
3	STAT1	chr8:130798765-130799645	Hela-S3	cervix:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
4	MYC	chr8:130798888-130799630	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA2	chr8:130798639-130799913	HUVEC	blood vessel:	n/a	chr8:130799761-130799770 chr8:130798921-130798931
6	STAT3	chr8:130798710-130800095	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
7	FOS	chr8:130798714-130799992	HUVEC	blood vessel:	n/a	chr8:130799760-130799769
8	FOS	chr8:130798784-130800089	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
9	POLR2A	chr8:130798669-130800042	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr8:130798731-130800157	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
11	STAT3	chr8:130798764-130800076	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
12	STAT3	chr8:130798733-130800147	MCF10A-Er-Src	breast:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
13	FOSL1	chr8:130798736-130799812	HCT-116	colon:	n/a	chr8:130799760-130799769
14	RFX5	chr8:130799174-130799634	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr8:130798851-130800095	Hela-S3	cervix:	n/a	chr8:130799390-130799399 chr8:130799387-130799401 chr8:130799389-130799398 chr8:130799388-130799399
16	CEBPB	chr8:130799120-130799677	MCF-7	breast:	n/a	chr8:130799436-130799447
17	CEBPB	chr8:130799048-130799755	HCT-116	colon:	n/a	chr8:130799436-130799447
18	EP300	chr8:130799025-130800118	Hela-S3	cervix:	n/a	n/a
19	MYC	chr8:130798959-130800113	MCF10A-Er-Src	breast:	n/a	n/a
20	GTF3C2	chr8:130799169-130800010	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr8:130799128-130799604	ECC-1	luminal epithelium:	n/a	chr8:130799436-130799447
22	POLR2A	chr8:130798667-130799978	MCF10A-Er-Src	breast:	n/a	n/a
23	ZNF143	chr8:130799109-130799662	Hela-S3	cervix:	n/a	n/a
24	FOS	chr8:130798803-130799993	MCF10A-Er-Src	breast:	n/a	chr8:130799760-130799769
25	CEBPB	chr8:130798793-130800166	Hela-S3	cervix:	n/a	chr8:130799923-130799934 chr8:130799436-130799447

Variant related genes	Relation type
GSDMC	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10094445	0.86[ASN][1000 genomes]
rs10096604	0.88[ASN][1000 genomes]
rs10097810	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098559	0.88[ASN][1000 genomes]
rs10956495	0.88[ASN][1000 genomes]
rs1600931	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1905168	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967018	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979476	0.86[ASN][1000 genomes]
rs1988911	0.86[ASN][1000 genomes]
rs2128386	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2894495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3957254	0.81[ASN][1000 genomes]
rs4103049	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4260864	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383938	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4412339	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4500051	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733741	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[ASN][1000 genomes]
rs6470781	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470782	0.85[ASN][1000 genomes]
rs6470783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983184	0.86[ASN][1000 genomes]
rs73406845	0.84[ASN][1000 genomes]
rs7821985	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834217	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834660	0.86[ASN][1000 genomes]
rs9656980	0.85[ASN][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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130796400-130799800	Active TSS	Psoas Muscle	Psoas
2	chr8:130797000-130799200	Active TSS	Esophagus	oesophagus
3	chr8:130798400-130799800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr8:130798400-130800000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130798400-130800000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:130798600-130799200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:130798600-130799200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:130798600-130799200	Enhancers	Placenta	Placenta
9	chr8:130798600-130799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:130798600-130799600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:130798600-130800000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:130798600-130800000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:130798600-130800000	Enhancers	Osteobl	bone
14	chr8:130798800-130799200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:130798800-130799200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:130798800-130799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:130798800-130799200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:130798800-130799200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:130798800-130799600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:130798800-130799800	Flanking Active TSS	Hela-S3	cervix
21	chr8:130798800-130799800	Flanking Active TSS	HMEC	breast
22	chr8:130798800-130799800	Flanking Active TSS	HUVEC	blood vessel
23	chr8:130798800-130800000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:130798800-130800200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:130798800-130800200	Flanking Active TSS	NHEK	skin
26	chr8:130799000-130799200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:130799000-130799800	Enhancers	HSMM	muscle
28	chr8:130799000-130799800	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links