Variant report

Variant	rs12707631
Chromosome Location	chr7:83839055-83839056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1015628	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215878	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223946	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236509	1.00[ASN][1000 genomes]
rs10256470	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262040	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272145	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979192	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979193	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113887	0.80[EUR][1000 genomes]
rs12707622	0.80[EUR][1000 genomes]
rs12707629	0.80[EUR][1000 genomes]
rs12707630	0.80[EUR][1000 genomes]
rs12707640	1.00[ASN][1000 genomes]
rs13222313	0.87[EUR][1000 genomes]
rs13230582	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234555	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237186	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244575	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247197	0.80[EUR][1000 genomes]
rs17158747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242890	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2158565	0.80[EUR][1000 genomes]
rs28521462	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34034034	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35006905	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377558	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35486665	0.80[EUR][1000 genomes]
rs35921556	0.80[EUR][1000 genomes]
rs35929449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58804537	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558714	0.80[EUR][1000 genomes]
rs73384867	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83830400-83839600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:83833800-83840200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:83837400-83839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83837400-83839600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:83838200-83841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:83838200-83846400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:83838600-83839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:83838800-83839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:83838800-83839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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