Variant report

Variant	rs700291
Chromosome Location	chr7:146214384-146214385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10227262	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10260534	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10263151	0.95[JPT][hapmap]
rs1068270	0.90[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1068273	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1068274	0.92[ASN][1000 genomes]
rs1089447	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1089448	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs1089450	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap]
rs12537051	0.86[EUR][1000 genomes]
rs1358081	0.91[JPT][hapmap]
rs1405178	0.95[JPT][hapmap]
rs1405179	0.95[JPT][hapmap]
rs1608958	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs17170126	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs17170134	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs62483358	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62484464	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62484483	0.86[EUR][1000 genomes]
rs700285	0.83[CEU][hapmap]
rs700287	0.90[ASN][1000 genomes]
rs700290	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73164078	0.86[EUR][1000 genomes]
rs801929	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs801932	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs801939	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs801940	0.84[ASN][1000 genomes]
rs801941	0.83[ASN][1000 genomes]
rs801953	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs801970	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801971	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs802022	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv889387	chr7:145903862-146239545	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1024679	chr7:146091479-146248268	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1017138	chr7:146102286-146318562	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv889390	chr7:146111034-146239545	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1028798	chr7:146138480-146318562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv889391	chr7:146168418-146389259	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv608931	chr7:146189057-146274427	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv608932	chr7:146189652-146244207	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv465186	chr7:146192877-146254660	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv608933	chr7:146192877-146254660	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1032959	chr7:146193191-146351005	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv608934	chr7:146195452-146267257	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1021967	chr7:146199590-146413808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1015996	chr7:146202073-146419347	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv934014	chr7:146212698-146400508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146207600-146215800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:146214200-146214800	Active TSS	Fetal Heart	heart

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