Variant report

Variant	rs1240952
Chromosome Location	chr5:16522775-16522776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16522409..16525329-chr5:16526389..16528895,4	K562	blood:
2	chr5:16521375..16523909-chr5:16526389..16530359,4	K562	blood:
3	chr5:16514469..16516231-chr5:16522718..16524786,2	MCF-7	breast:
4	chr5:16515644..16518181-chr5:16520879..16523096,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10053236	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1020952	0.91[CEU][hapmap];0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs12109050	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1240951	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162758	0.91[CEU][hapmap];0.92[GIH][hapmap];0.81[EUR][1000 genomes]
rs162862	0.82[EUR][1000 genomes]
rs2250531	0.97[ASN][1000 genomes]
rs248132	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248133	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2596382	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334473	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334485	0.91[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs334486	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs334487	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs334490	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs334491	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs334492	0.82[CEU][hapmap]
rs425779	0.82[EUR][1000 genomes]
rs595358	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16509200-16524200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:16519400-16523200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:16520000-16524000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:16520200-16524000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:16520200-16524200	Weak transcription	Brain Angular Gyrus	brain
9	chr5:16520200-16525000	Weak transcription	Gastric	stomach
10	chr5:16520400-16523200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:16520600-16524800	Weak transcription	Thymus	Thymus
12	chr5:16521000-16524400	Enhancers	Fetal Heart	heart
13	chr5:16521400-16523600	Enhancers	Colonic Mucosa	Colon
14	chr5:16521400-16523600	Enhancers	Fetal Intestine Small	intestine
15	chr5:16521600-16523800	Enhancers	Fetal Intestine Large	intestine
16	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:16521800-16523600	Enhancers	Pancreas	Pancrea
18	chr5:16522000-16523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:16522000-16524200	Strong transcription	Primary T cells from cord blood	blood
20	chr5:16522200-16522800	Enhancers	HepG2	liver
21	chr5:16522200-16523400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:16522200-16524000	Weak transcription	Right Ventricle	heart
23	chr5:16522200-16525400	Weak transcription	Lung	lung
24	chr5:16522200-16528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:16522400-16524000	Weak transcription	Left Ventricle	heart
26	chr5:16522400-16524200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:16522400-16524200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:16522400-16529000	Weak transcription	Stomach Mucosa	stomach
29	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:16522600-16528400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:16522600-16530000	Weak transcription	Right Atrium	heart

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