Variant report

Variant	rs17478565
Chromosome Location	chr7:78981036-78981037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10085854	0.80[ASN][1000 genomes]
rs10214949	0.93[CEU][hapmap]
rs10224707	0.93[CEU][hapmap]
rs10225318	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10238084	0.87[ASN][1000 genomes]
rs10239869	0.91[CEU][hapmap]
rs10247922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248584	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10248625	0.91[CEU][hapmap]
rs10256084	0.87[ASN][1000 genomes]
rs10258290	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10260696	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10263112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269542	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275975	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485936	1.00[JPT][hapmap]
rs1100310	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1155234	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11972217	1.00[JPT][hapmap]
rs11980152	1.00[JPT][hapmap]
rs11980253	1.00[JPT][hapmap]
rs12670442	1.00[JPT][hapmap]
rs12670971	1.00[JPT][hapmap]
rs1358471	1.00[JPT][hapmap]
rs1406153	1.00[JPT][hapmap]
rs1406154	1.00[JPT][hapmap]
rs1528262	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1534492	1.00[JPT][hapmap]
rs1534493	1.00[JPT][hapmap]
rs1609273	1.00[JPT][hapmap]
rs1609276	1.00[JPT][hapmap]
rs16886457	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap]
rs16886549	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147873	1.00[JPT][hapmap]
rs17152041	1.00[JPT][hapmap]
rs17152051	1.00[JPT][hapmap]
rs17152063	1.00[JPT][hapmap]
rs17152076	1.00[JPT][hapmap]
rs17152125	1.00[JPT][hapmap]
rs17152224	1.00[JPT][hapmap]
rs17152238	1.00[JPT][hapmap]
rs17152245	1.00[JPT][hapmap]
rs17421940	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488042	1.00[JPT][hapmap]
rs17818755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918932	1.00[JPT][hapmap]
rs1997277	0.80[ASN][1000 genomes]
rs2190182	0.93[CEU][hapmap]
rs2214808	0.85[CEU][hapmap]
rs2364908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364920	0.93[CEU][hapmap]
rs28450541	0.80[ASN][1000 genomes]
rs28611031	0.80[ASN][1000 genomes]
rs28700941	0.80[ASN][1000 genomes]
rs4236606	0.93[CEU][hapmap]
rs4727839	1.00[JPT][hapmap]
rs4727840	1.00[JPT][hapmap]
rs4730758	1.00[JPT][hapmap]
rs4730816	0.93[CEU][hapmap]
rs4730818	0.93[CEU][hapmap]
rs4730820	0.93[CEU][hapmap]
rs56829360	0.80[ASN][1000 genomes]
rs61075638	0.80[ASN][1000 genomes]
rs62458985	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458986	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458987	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458988	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458989	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458990	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466602	0.80[ASN][1000 genomes]
rs6466622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466638	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466639	0.92[CEU][hapmap]
rs6466640	0.93[CEU][hapmap]
rs6963068	1.00[JPT][hapmap]
rs6977556	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.80[ASN][1000 genomes]
rs7787904	1.00[JPT][hapmap]
rs7787956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791667	0.93[CEU][hapmap]
rs7800314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803949	0.93[CEU][hapmap]
rs7806922	0.87[ASN][1000 genomes]
rs7810770	0.87[ASN][1000 genomes]
rs7811441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs848916	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848944	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[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	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	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2762681	chr7:78958864-78982993	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78971800-78981800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:78977200-78981800	Weak transcription	Fetal Heart	heart
3	chr7:78979600-78981600	Weak transcription	Ovary	ovary
4	chr7:78980200-78982200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:78980800-78981800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:78980800-78986200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:78981000-78982000	Enhancers	Brain Hippocampus Middle	brain

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