Variant report

Variant	rs12527880
Chromosome Location	chr6:5523639-5523640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5513795..5515998-chr6:5521292..5524048,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10458088	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10900969	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10900970	0.83[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11243014	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11243017	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758395	0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12175572	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17140763	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6935992	0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7746396	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763423	0.83[CHB][hapmap]
rs9328309	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9378957	0.84[ASN][1000 genomes]
rs9378958	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs9378959	1.00[CHB][hapmap]
rs9378960	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9378962	0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9392690	0.82[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9392691	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9405272	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs9405273	0.83[CHB][hapmap]
rs9405274	0.81[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9405842	0.94[CHB][hapmap]
rs9405843	0.81[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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
4	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5500400-5525000	Weak transcription	Spleen	Spleen
2	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
3	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:5509000-5524400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5509600-5527400	Weak transcription	Lung	lung
6	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
8	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
9	chr6:5512600-5524800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:5512600-5525200	Weak transcription	HSMMtube	muscle
11	chr6:5514000-5537400	Weak transcription	Left Ventricle	heart
12	chr6:5516200-5525800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:5518600-5550000	Weak transcription	Right Ventricle	heart
14	chr6:5521400-5525600	Weak transcription	HMEC	breast
15	chr6:5521800-5523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:5521800-5525200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:5522200-5524400	Weak transcription	Fetal Heart	heart
18	chr6:5522600-5531400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:5522600-5544600	Weak transcription	Ovary	ovary
20	chr6:5522600-5548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:5522800-5550400	Weak transcription	GM12878-XiMat	blood
22	chr6:5523000-5549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:5523400-5531200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:5523600-5531400	Weak transcription	Fetal Thymus	thymus

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