Variant report

Variant	rs11972217
Chromosome Location	chr7:78865163-78865164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10085854	0.85[EUR][1000 genomes]
rs10225318	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10244816	0.90[EUR][1000 genomes]
rs10247922	1.00[JPT][hapmap]
rs10248439	1.00[JPT][hapmap]
rs10248584	1.00[JPT][hapmap]
rs10258290	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10261439	1.00[JPT][hapmap]
rs10263112	1.00[JPT][hapmap]
rs10264341	0.90[EUR][1000 genomes]
rs10274797	0.90[EUR][1000 genomes]
rs10276665	1.00[JPT][hapmap]
rs10485936	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1100310	1.00[JPT][hapmap]
rs1155234	1.00[JPT][hapmap]
rs11974844	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11974872	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11977156	0.90[EUR][1000 genomes]
rs11979157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980152	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs11980253	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12666679	0.82[EUR][1000 genomes]
rs12666680	0.90[EUR][1000 genomes]
rs12670442	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12670971	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12670981	0.90[EUR][1000 genomes]
rs12706106	0.90[EUR][1000 genomes]
rs12706107	0.90[EUR][1000 genomes]
rs1358471	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1406153	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1406154	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1406155	0.90[EUR][1000 genomes]
rs1406156	0.90[EUR][1000 genomes]
rs1528262	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1534492	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1534493	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1609273	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1609274	0.90[EUR][1000 genomes]
rs1609275	0.90[EUR][1000 genomes]
rs1609276	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16886435	1.00[JPT][hapmap]
rs16886457	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16886549	1.00[JPT][hapmap]
rs17147873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152006	1.00[JPT][hapmap]
rs17152009	1.00[JPT][hapmap]
rs17152011	1.00[JPT][hapmap]
rs17152041	1.00[JPT][hapmap]
rs17152051	1.00[JPT][hapmap]
rs17152063	1.00[JPT][hapmap]
rs17152076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17152125	1.00[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs17152224	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs17152238	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17152245	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs17478565	1.00[JPT][hapmap]
rs17481134	1.00[JPT][hapmap]
rs17488042	1.00[JPT][hapmap]
rs17818755	1.00[JPT][hapmap]
rs1918930	1.00[JPT][hapmap]
rs1918932	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1997277	0.81[EUR][1000 genomes]
rs2178169	0.90[EUR][1000 genomes]
rs2364908	1.00[JPT][hapmap]
rs28401690	0.90[EUR][1000 genomes]
rs28450541	0.81[EUR][1000 genomes]
rs28611031	0.81[EUR][1000 genomes]
rs28700941	0.81[EUR][1000 genomes]
rs3919522	1.00[JPT][hapmap]
rs4727839	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4727840	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4727842	0.90[EUR][1000 genomes]
rs4730757	0.90[EUR][1000 genomes]
rs4730758	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs56829360	0.81[EUR][1000 genomes]
rs59620956	0.90[EUR][1000 genomes]
rs61075638	0.81[EUR][1000 genomes]
rs6466602	0.81[EUR][1000 genomes]
rs6466622	1.00[JPT][hapmap]
rs6466638	1.00[JPT][hapmap]
rs6963053	0.90[EUR][1000 genomes]
rs6963068	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6975958	0.90[EUR][1000 genomes]
rs73375128	0.90[EUR][1000 genomes]
rs73375139	0.90[EUR][1000 genomes]
rs73375150	0.90[EUR][1000 genomes]
rs73375151	0.90[EUR][1000 genomes]
rs73375156	0.90[EUR][1000 genomes]
rs73375167	0.81[EUR][1000 genomes]
rs7787904	1.00[JPT][hapmap]
rs7787956	1.00[JPT][hapmap]
rs7800314	1.00[JPT][hapmap]
rs7811441	1.00[JPT][hapmap]
rs848913	1.00[JPT][hapmap]
rs848932	1.00[JPT][hapmap]
rs848934	1.00[JPT][hapmap]
rs848948	1.00[JPT][hapmap]
rs848953	1.00[JPT][hapmap]
rs991261	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888510	chr7:78742376-78865618	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757230	chr7:78801388-78887925	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2759539	chr7:78801388-78887925	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv437988	chr7:78806100-78910974	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:78864600-78865200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:78864600-78865400	Active TSS	HUES6 Cell Line	embryonic stem cell

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