Variant report

Variant	rs1567096
Chromosome Location	chr6:79316080-79316081
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	chr6:79315522-79316130	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr6:79315405-79316199	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr6:79315451-79316095	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr6:79315610-79316208	MCF10A-Er-Src	breast:	n/a	chr6:79315792-79315803
5	PBX3	chr6:79315425-79316122	SK-N-SH	brain:	n/a	n/a
6	EP300	chr6:79315583-79316238	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr6:79315477-79316183	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr6:79315454-79316147	ECC-1	luminal epithelium:	n/a	n/a
9	JUND	chr6:79315348-79316204	SK-N-SH	brain:	n/a	n/a
10	FOS	chr6:79315225-79316140	HUVEC	blood vessel:	n/a	chr6:79315792-79315803
11	TCF12	chr6:79315423-79316144	SK-N-SH	brain:	n/a	n/a
12	FOS	chr6:79315577-79316225	MCF10A-Er-Src	breast:	n/a	chr6:79315792-79315803
13	JUN	chr6:79315553-79316121	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr6:79314796-79316196	SK-N-SH	brain:	n/a	chr6:79314956-79314977
15	POLR2A	chr6:79315841-79316091	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:79315619-79316107	MCF10A-Er-Src	breast:	n/a	chr6:79315792-79315803
17	NFIC	chr6:79315382-79316230	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr6:79315468-79316192	SK-N-SH	brain:	n/a	n/a
19	MEF2A	chr6:79315525-79316223	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr6:79315539-79316081	SK-N-SH	brain:	n/a	n/a
21	JUND	chr6:79315466-79316161	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr6:79315560-79316198	SK-N-SH	brain:	n/a	n/a
23	FOSL1	chr6:79315502-79316104	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000230309	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1012026	0.99[ASN][1000 genomes]
rs1012027	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10455349	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10806133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10943547	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10943548	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10943549	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12197137	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12201840	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12209692	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12210711	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12213548	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12530353	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530368	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1395446	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1395447	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407102	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1567095	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1567097	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1570075	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16890224	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16890230	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1995650	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2063045	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2202588	0.82[ASN][1000 genomes]
rs2321764	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236852	0.88[ASN][1000 genomes]
rs236853	0.95[ASN][1000 genomes]
rs236855	0.94[ASN][1000 genomes]
rs236859	0.95[ASN][1000 genomes]
rs236882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs236884	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs236886	0.96[ASN][1000 genomes]
rs5018093	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699182	0.96[ASN][1000 genomes]
rs717364	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755578	0.97[ASN][1000 genomes]
rs7763429	0.87[ASN][1000 genomes]
rs9361413	0.87[ASN][1000 genomes]
rs9361414	0.87[ASN][1000 genomes]
rs984157	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886235	chr6:78861808-79369972	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv604011	chr6:79042990-79455282	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886300	chr6:79129963-79341891	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv522646	chr6:79185106-79333988	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1028767	chr6:79200713-79341224	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79309800-79324800	Weak transcription	Aorta	Aorta
2	chr6:79313600-79316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:79315000-79316200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:79315000-79316200	Flanking Active TSS	HUVEC	blood vessel
5	chr6:79315200-79316200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:79315200-79317400	Enhancers	Hela-S3	cervix
7	chr6:79315400-79316200	Flanking Active TSS	NH-A	brain
8	chr6:79315600-79316200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:79315600-79317600	Enhancers	NHLF	lung
10	chr6:79315800-79316600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:79315800-79316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:79315800-79317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:79315800-79317400	Enhancers	HMEC	breast
14	chr6:79315800-79317400	Enhancers	NHEK	skin
15	chr6:79315800-79318200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:79315800-79318200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:79316000-79316200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:79316000-79316200	Active TSS	A549	lung
19	chr6:79316000-79316200	Flanking Active TSS	NHDF-Ad	bronchial
20	chr6:79316000-79316200	Flanking Active TSS	Osteobl	bone
21	chr6:79316000-79316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:79316000-79316400	Weak transcription	HSMMtube	muscle
23	chr6:79316000-79318200	Enhancers	HSMM	muscle

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