Variant report

Variant	rs12547615
Chromosome Location	chr8:52913200-52913201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10958307	0.83[ASN][1000 genomes]
rs12541514	0.82[ASN][1000 genomes]
rs12541693	0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs12544671	0.82[ASN][1000 genomes]
rs12544872	0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12545423	0.80[ASN][1000 genomes]
rs12545755	0.81[ASN][1000 genomes]
rs12546159	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12547887	0.81[ASN][1000 genomes]
rs12678795	0.82[ASN][1000 genomes]
rs1399857	0.90[ASN][1000 genomes]
rs1399858	0.90[ASN][1000 genomes]
rs1399859	0.90[ASN][1000 genomes]
rs1399860	0.90[ASN][1000 genomes]
rs16917017	0.81[ASN][1000 genomes]
rs16917024	0.82[ASN][1000 genomes]
rs16917026	0.82[ASN][1000 genomes]
rs16917029	0.82[ASN][1000 genomes]
rs16917030	0.82[ASN][1000 genomes]
rs16917031	0.82[ASN][1000 genomes]
rs2017534	0.87[ASN][1000 genomes]
rs2280179	0.87[CHD][hapmap];0.94[JPT][hapmap]
rs2554461	0.87[ASN][1000 genomes]
rs55870400	0.82[ASN][1000 genomes]
rs6473673	0.90[ASN][1000 genomes]
rs6473675	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6473676	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6473677	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6473678	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6982212	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6991598	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7005809	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73681421	0.80[ASN][1000 genomes]
rs73681429	0.82[ASN][1000 genomes]
rs73681430	0.82[ASN][1000 genomes]
rs73681431	0.82[ASN][1000 genomes]
rs73681434	0.81[ASN][1000 genomes]
rs9298469	1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031672	chr8:52872448-52917469	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020673	chr8:52878946-52917469	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1017700	chr8:52886765-52917469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv520947	chr8:52887541-52915994	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv611353	chr8:52887541-52915994	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1027822	chr8:52897278-52916486	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52912600-52913400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:52912600-52913400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:52912600-52913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:52912600-52913400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:52912600-52913800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:52912600-52914400	Enhancers	Primary B cells from cord blood	blood
7	chr8:52912600-52914600	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:52912800-52913200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:52912800-52913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:52912800-52913200	Enhancers	Fetal Thymus	thymus
11	chr8:52912800-52913200	Enhancers	HUVEC	blood vessel
12	chr8:52912800-52913400	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:52912800-52913400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:52912800-52913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:52912800-52913400	Enhancers	Spleen	Spleen
16	chr8:52912800-52913600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:52912800-52913600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:52912800-52913600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:52912800-52913600	Enhancers	Dnd41	blood
20	chr8:52912800-52913800	Enhancers	Primary T cells from cord blood	blood
21	chr8:52912800-52913800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:52912800-52913800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:52912800-52914000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:52913000-52913200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:52913000-52913200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:52913000-52913200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:52913000-52913400	Enhancers	Thymus	Thymus
28	chr8:52913000-52914000	Flanking Active TSS	GM12878-XiMat	blood
29	chr8:52913200-52918600	Weak transcription	Fetal Thymus	thymus

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