Variant report

Variant	rs62260271
Chromosome Location	chr3:83984219-83984220
allele	C/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	RAD21	chr3:83983317-83984248	Hela-S3	cervix:	n/a	n/a
2	FOS	chr3:83983271-83984298	MCF10A-Er-Src	breast:	n/a	n/a
3	SMC3	chr3:83983336-83984302	Hela-S3	cervix:	n/a	n/a
4	MAX	chr3:83983324-83984318	Hela-S3	cervix:	n/a	n/a
5	FOS	chr3:83983411-83984275	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr3:83983308-83984268	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr3:83983438-83984252	Hela-S3	cervix:	n/a	n/a
8	SETDB1	chr3:83983197-83984270	U2OS	brain:	n/a	n/a
9	MAX	chr3:83983407-83984240	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:83983571-83984282	MCF10A-Er-Src	breast:	n/a	n/a
11	TFAP2C	chr3:83983434-83984832	Hela-S3	cervix:	n/a	n/a
12	TBP	chr3:83983462-83984270	Hela-S3	cervix:	n/a	n/a
13	TFAP2A	chr3:83983431-83984359	Hela-S3	cervix:	n/a	chr3:83983715-83983730
14	SIN3AK20	chr3:83983495-83984334	MCF-7	breast:	n/a	n/a
15	FOS	chr3:83983579-83984221	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr3:83983244-83984219	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr3:83983317-83984228	Hela-S3	cervix:	n/a	n/a
18	FOS	chr3:83983435-83984305	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr3:83983335-83984400	Hela-S3	cervix:	n/a	n/a
20	WRNIP1	chr3:83984006-83984328	GM12878	blood:	n/a	n/a
21	RCOR1	chr3:83983587-83984252	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SRRM1P2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11715827	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1918769	0.85[EUR][1000 genomes]
rs4856478	0.84[EUR][1000 genomes]
rs58882373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62260262	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62260275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66516228	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66704326	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73131943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006081	chr3:83421626-84262106	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv523566	chr3:83768568-84006037	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1012918	chr3:83784488-84191829	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv536610	chr3:83784488-84191829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv999325	chr3:83832320-84049295	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv428740	chr3:83886472-84069201	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv877073	chr3:83945963-84066103	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv877074	chr3:83952144-84066103	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv877075	chr3:83952144-84199075	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv470705	chr3:83970229-84047796	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv963573	chr3:83970437-84001140	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv877076	chr3:83970787-84094818	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv877077	chr3:83976987-84094818	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83982200-83985000	Enhancers	Hela-S3	cervix
2	chr3:83982400-83985400	Enhancers	HMEC	breast
3	chr3:83982600-83985400	Enhancers	NHEK	skin
4	chr3:83983000-83985200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:83983000-83986200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:83983200-83984400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:83983200-83984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:83983200-83984800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr3:83983200-83985200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:83983400-83984800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:83983400-83985600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:83984200-83984800	Enhancers	Dnd41	blood

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