Variant report

Variant	rs1334517
Chromosome Location	chr7:80254870-80254871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10215288	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10245610	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1093827	0.82[EUR][1000 genomes]
rs1093828	0.82[EUR][1000 genomes]
rs1093832	0.82[EUR][1000 genomes]
rs1194180	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1194203	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1205467	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12706918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1334513	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334514	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1334516	1.00[EUR][1000 genomes]
rs1334518	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1413656	0.96[EUR][1000 genomes]
rs1413657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1413659	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1413662	0.82[EUR][1000 genomes]
rs1524597	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1527463	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1537591	1.00[GIH][hapmap]
rs1537592	1.00[EUR][1000 genomes]
rs1572230	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17154246	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1722501	1.00[EUR][1000 genomes]
rs1722503	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1722504	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1722508	0.96[EUR][1000 genomes]
rs1722509	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1722521	0.82[EUR][1000 genomes]
rs1761644	0.82[EUR][1000 genomes]
rs1761649	0.82[EUR][1000 genomes]
rs1761664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1931697	1.00[EUR][1000 genomes]
rs2366856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691204	0.85[EUR][1000 genomes]
rs2781844	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2781845	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3211809	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3211855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3211892	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3211905	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3211909	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3211912	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3211913	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4728191	1.00[CEU][hapmap];0.82[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4731646	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371041	0.82[EUR][1000 genomes]
rs73371043	0.82[EUR][1000 genomes]
rs73371050	0.82[EUR][1000 genomes]
rs73373037	0.82[EUR][1000 genomes]
rs73376911	0.82[EUR][1000 genomes]
rs73376957	0.96[EUR][1000 genomes]
rs73709014	0.92[EUR][1000 genomes]
rs819438	0.85[EUR][1000 genomes]
rs819439	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs819440	0.85[EUR][1000 genomes]
rs819448	0.82[EUR][1000 genomes]
rs819449	0.82[EUR][1000 genomes]
rs819450	0.82[EUR][1000 genomes]
rs819458	0.82[EUR][1000 genomes]
rs867875	0.82[EUR][1000 genomes]
rs867877	0.82[EUR][1000 genomes]
rs945097	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs945098	0.82[EUR][1000 genomes]
rs945099	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
3	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80253400-80256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:80253400-80256200	Weak transcription	NHDF-Ad	bronchial
6	chr7:80253400-80259400	Weak transcription	Fetal Lung	lung
7	chr7:80253600-80255000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:80253600-80256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:80253600-80256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:80253600-80256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:80253600-80256200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:80253600-80256200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:80253800-80255600	Enhancers	Adipose Nuclei	Adipose
14	chr7:80254000-80255800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:80254200-80257000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:80254400-80255400	Active TSS	Right Atrium	heart
17	chr7:80254400-80258000	Weak transcription	Psoas Muscle	Psoas
18	chr7:80254600-80255000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:80254600-80255200	Flanking Active TSS	Fetal Heart	heart
20	chr7:80254800-80255400	Weak transcription	Left Ventricle	heart
21	chr7:80254800-80255600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:80254800-80259400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:80254800-80259600	Weak transcription	HepG2	liver

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