Variant report

Variant	rs1240951
Chromosome Location	chr5:16524541-16524542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16522409..16525329-chr5:16526389..16528895,4	K562	blood:
2	chr5:16514469..16516231-chr5:16522718..16524786,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10053236	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1020952	1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[EUR][1000 genomes]
rs12109050	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1240952	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	1.00[CEU][hapmap];0.92[GIH][hapmap];0.84[EUR][1000 genomes]
rs162862	0.85[EUR][1000 genomes]
rs2250531	0.97[ASN][1000 genomes]
rs248132	0.90[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248133	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2596382	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334470	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334473	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334485	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs334486	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs334487	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs334490	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs334491	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs334492	0.91[CEU][hapmap]
rs425779	0.85[EUR][1000 genomes]
rs595358	0.84[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:16520200-16525000	Weak transcription	Gastric	stomach
5	chr5:16520600-16524800	Weak transcription	Thymus	Thymus
6	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:16522200-16525400	Weak transcription	Lung	lung
8	chr5:16522200-16528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:16522400-16529000	Weak transcription	Stomach Mucosa	stomach
10	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:16522600-16528400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:16522600-16530000	Weak transcription	Right Atrium	heart
13	chr5:16523000-16525000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:16523200-16524600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:16523200-16524800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:16523400-16525800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
20	chr5:16523800-16524800	Weak transcription	Fetal Brain Female	brain
21	chr5:16523800-16528600	Weak transcription	Fetal Intestine Large	intestine
22	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:16524000-16524600	Enhancers	Right Ventricle	heart
25	chr5:16524000-16525600	Enhancers	Left Ventricle	heart
26	chr5:16524000-16525800	Enhancers	Fetal Brain Male	brain
27	chr5:16524000-16526400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:16524200-16524600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:16524200-16525000	Enhancers	Brain Angular Gyrus	brain
30	chr5:16524200-16525000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr5:16524200-16526200	Genic enhancers	Primary T cells from cord blood	blood
32	chr5:16524200-16526600	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:16524200-16528600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:16524200-16528600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:16524400-16524600	Enhancers	Small Intestine	intestine
36	chr5:16524400-16524800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:16524400-16525600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:16524400-16526000	Weak transcription	Fetal Heart	heart
39	chr5:16524400-16526400	Weak transcription	Colonic Mucosa	Colon
40	chr5:16524400-16526800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:16524400-16529600	Weak transcription	Psoas Muscle	Psoas
42	chr5:16524400-16529800	Weak transcription	Brain Substantia Nigra	brain

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