Variant report

Variant	rs3747802
Chromosome Location	chr7:87342586-87342587
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	POLR2A	chr7:87342448-87342616	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-2	chr7:87342478-87342728	NONHSAT121843
2	lnc-ABCB4-2	chr7:87342477-87342611	NONHSAT121839

Variant related genes	Relation type
ABCB1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10486998	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1202172	0.85[CHB][hapmap]
rs1202174	0.85[CHB][hapmap]
rs1202179	0.85[CHB][hapmap]
rs12666563	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12666742	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12669259	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12670317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12670560	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16885871	1.00[AMR][1000 genomes]
rs17146782	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17146787	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17149850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17149854	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17149866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17149905	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17149907	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17149925	0.88[ASN][1000 genomes]
rs17149933	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17149957	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17149966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17150051	0.86[ASN][1000 genomes]
rs2188829	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2235074	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2282944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2285648	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28381715	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28381781	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28381789	1.00[CHB][hapmap]
rs28381796	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28381802	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3213619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3213633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35229105	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4728705	0.85[CHB][hapmap]
rs4728706	0.85[CHB][hapmap]
rs4728707	1.00[CHB][hapmap]
rs971485	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs973445	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv607729	chr7:87326929-87352572	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv888695	chr7:87328502-87430669	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv607730	chr7:87330423-87352572	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1814479	chr7:87338467-87346819	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87332600-87360000	Weak transcription	Liver	Liver
2	chr7:87339000-87342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:87341000-87342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:87341200-87343000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:87341600-87342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:87342200-87342800	Flanking Active TSS	HUVEC	blood vessel
7	chr7:87342400-87342800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:87342400-87342800	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:87342400-87342800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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