Variant report

Variant	rs1205467
Chromosome Location	chr7:80233720-80233721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10215288	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10245610	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10499860	0.98[ASN][1000 genomes]
rs10499861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10499862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1093827	0.86[EUR][1000 genomes]
rs1093828	0.86[EUR][1000 genomes]
rs1093832	0.86[EUR][1000 genomes]
rs1194180	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1194203	0.89[EUR][1000 genomes]
rs12531218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12531609	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs12532729	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12533372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12534733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12536106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12540492	0.93[ASN][1000 genomes]
rs12706918	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13222488	0.89[CHB][hapmap]
rs1334513	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1334514	0.96[EUR][1000 genomes]
rs1334516	0.96[EUR][1000 genomes]
rs1334517	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1334518	0.92[EUR][1000 genomes]
rs1413656	0.92[EUR][1000 genomes]
rs1413657	0.96[EUR][1000 genomes]
rs1413659	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1413662	0.86[EUR][1000 genomes]
rs1524597	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1527463	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1537592	0.96[EUR][1000 genomes]
rs1572230	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17154133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17154137	1.00[ASN][1000 genomes]
rs17154170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17154186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17154209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17154213	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17154225	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17154246	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1722501	0.96[EUR][1000 genomes]
rs1722503	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1722504	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs1722508	1.00[EUR][1000 genomes]
rs1722509	1.00[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1722521	0.86[EUR][1000 genomes]
rs1761644	0.86[EUR][1000 genomes]
rs1761649	0.86[EUR][1000 genomes]
rs1761664	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes]
rs1880410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1880955	0.85[CHB][hapmap]
rs1931697	0.96[EUR][1000 genomes]
rs1969494	0.98[ASN][1000 genomes]
rs2366856	0.96[EUR][1000 genomes]
rs2691204	0.89[EUR][1000 genomes]
rs2781844	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs2781845	0.89[EUR][1000 genomes]
rs3211809	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3211845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3211855	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3211892	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211905	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211909	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211912	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3211913	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3212159	0.93[ASN][1000 genomes]
rs3212164	0.93[ASN][1000 genomes]
rs3212165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3800553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3823475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4728191	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4731646	0.96[EUR][1000 genomes]
rs57312550	0.98[ASN][1000 genomes]
rs57886147	0.98[ASN][1000 genomes]
rs59637606	0.95[ASN][1000 genomes]
rs73371041	0.86[EUR][1000 genomes]
rs73371043	0.86[EUR][1000 genomes]
rs73371050	0.86[EUR][1000 genomes]
rs73373037	0.86[EUR][1000 genomes]
rs73376911	0.86[EUR][1000 genomes]
rs73376957	1.00[EUR][1000 genomes]
rs73709014	0.89[EUR][1000 genomes]
rs819438	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs819439	0.89[EUR][1000 genomes]
rs819440	0.89[EUR][1000 genomes]
rs819448	0.86[EUR][1000 genomes]
rs819449	0.86[EUR][1000 genomes]
rs819450	0.86[EUR][1000 genomes]
rs819458	0.86[EUR][1000 genomes]
rs867875	0.86[EUR][1000 genomes]
rs867877	0.86[EUR][1000 genomes]
rs945097	0.89[EUR][1000 genomes]
rs945098	0.86[EUR][1000 genomes]
rs945099	0.86[EUR][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80227400-80238200	Weak transcription	Small Intestine	intestine
2	chr7:80230200-80234800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:80230200-80237000	Weak transcription	Gastric	stomach
4	chr7:80231200-80236400	Active TSS	Right Atrium	heart
5	chr7:80231400-80235800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:80231600-80233800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr7:80231800-80233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80231800-80234800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:80231800-80236600	Active TSS	Adipose Nuclei	Adipose
10	chr7:80231800-80240200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:80232000-80236000	Weak transcription	Fetal Heart	heart
12	chr7:80232400-80235800	Weak transcription	Fetal Lung	lung
13	chr7:80232800-80234600	Weak transcription	Left Ventricle	heart
14	chr7:80233400-80234000	Enhancers	Fetal Intestine Large	intestine
15	chr7:80233400-80234000	Enhancers	Psoas Muscle	Psoas
16	chr7:80233600-80233800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:80233600-80236800	Weak transcription	Right Ventricle	heart

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