Variant report

Variant	rs7691918
Chromosome Location	chr4:80416491-80416492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10021556	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025630	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10027904	0.85[ASN][1000 genomes]
rs1031005	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs1074134	0.94[ASN][1000 genomes]
rs11098770	0.90[JPT][hapmap]
rs1115518	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1115519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11736348	0.94[ASN][1000 genomes]
rs11936123	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12501981	0.90[JPT][hapmap]
rs12506212	0.89[ASN][1000 genomes]
rs12511890	0.94[ASN][1000 genomes]
rs12643491	0.90[JPT][hapmap]
rs13111877	0.94[ASN][1000 genomes]
rs13118924	0.93[ASN][1000 genomes]
rs13128134	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13146986	0.90[JPT][hapmap]
rs1440860	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1440861	0.94[ASN][1000 genomes]
rs1440862	0.94[ASN][1000 genomes]
rs1440863	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440866	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1561638	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1561639	0.94[ASN][1000 genomes]
rs1561640	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1899232	0.94[ASN][1000 genomes]
rs1971838	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992367	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2119419	0.89[ASN][1000 genomes]
rs2119420	0.89[ASN][1000 genomes]
rs3943669	0.90[JPT][hapmap]
rs4975052	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4975089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs723243	0.94[ASN][1000 genomes]
rs723245	0.94[ASN][1000 genomes]
rs7655446	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7663844	0.94[ASN][1000 genomes]
rs7670107	0.94[ASN][1000 genomes]
rs7684683	0.94[ASN][1000 genomes]
rs7690520	0.92[ASN][1000 genomes]
rs7691021	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691868	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880988	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307532	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9307545	0.90[JPT][hapmap]
rs998437	0.92[ASN][1000 genomes]
rs9993773	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv999174	chr4:80212935-80512356	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3432913	chr4:80274683-80416584	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7691918	LINC00989	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80413600-80419800	Active TSS	Right Atrium	heart
2	chr4:80413800-80417000	Active TSS	Adipose Nuclei	Adipose
3	chr4:80414600-80417000	Active TSS	Stomach Smooth Muscle	stomach
4	chr4:80415200-80416600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:80415600-80418000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:80415800-80416600	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:80415800-80416800	Active TSS	Psoas Muscle	Psoas
8	chr4:80415800-80417000	Active TSS	Left Ventricle	heart
9	chr4:80416200-80416600	Enhancers	Fetal Brain Male	brain
10	chr4:80416200-80417000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:80416200-80417000	Enhancers	Brain Germinal Matrix	brain
12	chr4:80416200-80417000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links