Variant report

Variant	rs6975915
Chromosome Location	chr7:47737688-47737689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47646097..47647972-chr7:47737601..47739251,2	MCF-7	breast:
2	chr7:47619426..47621699-chr7:47736196..47738585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10224672	0.93[ASN][1000 genomes]
rs10226633	0.88[ASN][1000 genomes]
rs10226887	0.90[ASN][1000 genomes]
rs10227002	0.92[ASN][1000 genomes]
rs10227130	0.93[ASN][1000 genomes]
rs10234095	0.85[ASN][1000 genomes]
rs10241809	0.88[ASN][1000 genomes]
rs10242348	0.93[ASN][1000 genomes]
rs10246400	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255901	0.90[ASN][1000 genomes]
rs10256144	0.93[ASN][1000 genomes]
rs10266879	0.93[ASN][1000 genomes]
rs10266971	0.91[ASN][1000 genomes]
rs10272181	0.93[ASN][1000 genomes]
rs10273647	0.90[ASN][1000 genomes]
rs10275398	0.93[ASN][1000 genomes]
rs10275720	0.93[ASN][1000 genomes]
rs10275779	0.88[ASN][1000 genomes]
rs10275780	0.88[ASN][1000 genomes]
rs10479871	0.90[ASN][1000 genomes]
rs11760321	0.93[ASN][1000 genomes]
rs11762285	0.93[ASN][1000 genomes]
rs11763432	0.93[ASN][1000 genomes]
rs11766220	0.93[ASN][1000 genomes]
rs11770388	0.93[ASN][1000 genomes]
rs11772165	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11772364	0.92[ASN][1000 genomes]
rs11772424	0.93[ASN][1000 genomes]
rs11772427	0.93[ASN][1000 genomes]
rs11773187	0.93[ASN][1000 genomes]
rs11773422	0.93[ASN][1000 genomes]
rs13437880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720606	0.93[ASN][1000 genomes]
rs4720607	0.93[ASN][1000 genomes]
rs4720608	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720609	0.93[ASN][1000 genomes]
rs4720610	0.93[ASN][1000 genomes]
rs4720611	0.91[ASN][1000 genomes]
rs4720612	0.93[ASN][1000 genomes]
rs4724611	0.93[ASN][1000 genomes]
rs4724612	0.93[ASN][1000 genomes]
rs59668342	0.90[ASN][1000 genomes]
rs66979603	0.80[EUR][1000 genomes]
rs67344873	0.80[EUR][1000 genomes]
rs67853780	0.80[EUR][1000 genomes]
rs73107254	0.91[ASN][1000 genomes]
rs73107278	0.80[EUR][1000 genomes]
rs7776882	0.92[ASN][1000 genomes]
rs7793995	0.93[ASN][1000 genomes]
rs7794051	0.90[ASN][1000 genomes]
rs7794346	0.93[ASN][1000 genomes]
rs7804238	0.93[ASN][1000 genomes]
rs9690214	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1028355	chr7:47715107-47758976	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	esv3427240	chr7:47737127-47741925	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6975915	H2AFV	cis	parietal	SCAN
rs6975915	C7orf72	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47731200-47741600	Weak transcription	Right Atrium	heart
2	chr7:47732800-47737800	Weak transcription	HSMMtube	muscle
3	chr7:47732800-47739000	Weak transcription	Pancreas	Pancrea
4	chr7:47733000-47750000	Weak transcription	Aorta	Aorta
5	chr7:47733200-47741400	Weak transcription	A549	lung
6	chr7:47734000-47748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:47734200-47739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:47734600-47739400	Weak transcription	Fetal Kidney	kidney
9	chr7:47734600-47748200	Weak transcription	Fetal Stomach	stomach
10	chr7:47737200-47738200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:47737400-47737800	Enhancers	Fetal Heart	heart
12	chr7:47737400-47738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:47737600-47738200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:47737600-47738200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:47737600-47738200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:47737600-47738200	Enhancers	HMEC	breast

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