Variant report

Variant	rs11243016
Chromosome Location	chr6:5518360-5518361
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	chr6:5511127..5514739-chr6:5516626..5520619,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12204848	0.80[CHB][hapmap]
rs6597136	0.81[CHB][hapmap]
rs765820	0.81[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7758106	0.81[CEU][hapmap]
rs7763423	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs9328308	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9405273	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs9405842	0.95[YRI][hapmap]
rs9502311	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5488600-5521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:5500400-5525000	Weak transcription	Spleen	Spleen
3	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
4	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:5508200-5519400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:5509000-5519400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5509000-5521000	Weak transcription	Fetal Thymus	thymus
8	chr6:5509000-5524400	Weak transcription	Primary B cells from cord blood	blood
9	chr6:5509600-5527400	Weak transcription	Lung	lung
10	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
12	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
13	chr6:5512600-5524800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:5512600-5525200	Weak transcription	HSMMtube	muscle
15	chr6:5513000-5519200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:5514000-5537400	Weak transcription	Left Ventricle	heart
17	chr6:5515000-5518800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:5516200-5525800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:5516400-5522800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:5516400-5522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:5516600-5520600	Enhancers	GM12878-XiMat	blood
22	chr6:5516600-5523600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:5516800-5523600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:5517200-5518600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:5517200-5523000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:5517200-5523000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:5517400-5522800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:5517400-5523200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:5517800-5523400	Enhancers	Primary T cells from cord blood	blood
30	chr6:5518000-5522800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:5518200-5518400	Enhancers	Gastric	stomach
32	chr6:5518200-5518600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:5518200-5518600	Enhancers	Right Ventricle	heart
34	chr6:5518200-5519200	Enhancers	Fetal Heart	heart
35	chr6:5518200-5520000	Enhancers	Dnd41	blood
36	chr6:5518200-5520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:5518200-5522800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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