Variant report

Variant	rs10942274
Chromosome Location	chr5:80900442-80900443
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	chr5:80895098..80897934-chr5:80899967..80903607,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10514230	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10942275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11738820	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743304	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745832	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11749863	0.94[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12517941	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12521077	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12521151	0.94[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13157978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13158214	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13170372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171787	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13173845	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13184174	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13436668	0.94[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1971177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34307657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34365981	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34870295	0.86[ASN][1000 genomes]
rs35340025	0.85[EUR][1000 genomes]
rs35862056	0.95[ASN][1000 genomes]
rs4529168	0.81[CEU][hapmap]
rs62366269	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368677	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62368679	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6887473	0.86[ASN][1000 genomes]
rs71636282	0.93[ASN][1000 genomes]
rs72773052	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7707981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7711576	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720445	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7726379	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:80883800-80909200	Weak transcription	HSMM	muscle
3	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
4	chr5:80886800-80905400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:80887000-80905600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
7	chr5:80887200-80905400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:80887400-80904600	Weak transcription	Osteobl	bone
10	chr5:80888600-80905200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:80888600-80905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:80888800-80905600	Weak transcription	Fetal Stomach	stomach
13	chr5:80892000-80905600	Weak transcription	Gastric	stomach
14	chr5:80892800-80904600	Weak transcription	Fetal Brain Male	brain
15	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:80893600-80905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:80893600-80905600	Weak transcription	Aorta	Aorta
18	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:80893800-80903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:80894000-80901600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:80894400-80905200	Weak transcription	Fetal Intestine Large	intestine
22	chr5:80894400-80905400	Weak transcription	Fetal Brain Female	brain
23	chr5:80894400-80905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:80894600-80905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:80894600-80905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:80894600-80905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:80894600-80905600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:80894600-80905600	Weak transcription	Left Ventricle	heart
29	chr5:80894800-80905400	Weak transcription	Fetal Kidney	kidney
30	chr5:80894800-80905600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:80895000-80905400	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:80895000-80905600	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:80895200-80905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:80895400-80904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:80895400-80905400	Weak transcription	Liver	Liver
37	chr5:80895400-80905400	Weak transcription	Ovary	ovary
38	chr5:80895600-80909200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:80895800-80904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:80895800-80904800	Weak transcription	Fetal Lung	lung
41	chr5:80895800-80905800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
44	chr5:80897200-80911800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:80897400-80905600	Weak transcription	Esophagus	oesophagus
46	chr5:80897600-80905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:80897800-80905600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:80898000-80901800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:80898000-80905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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