Variant report

Variant	rs13157978
Chromosome Location	chr5:80899408-80899409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80897320..80900374-chr5:80908175..80911251,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10514230	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10942267	0.85[CEU][hapmap]
rs10942269	0.81[CEU][hapmap]
rs10942274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10942275	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.95[ASN][1000 genomes]
rs11738820	0.96[ASN][1000 genomes]
rs11740689	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs11743304	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11749863	0.81[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs12515751	0.90[CEU][hapmap]
rs12517941	0.90[ASN][1000 genomes]
rs12521077	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs12521151	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13158214	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13171787	0.90[ASN][1000 genomes]
rs13173845	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13182474	0.85[CEU][hapmap]
rs13184174	0.93[ASN][1000 genomes]
rs13436668	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs1971177	0.93[ASN][1000 genomes]
rs2060584	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34307657	0.93[ASN][1000 genomes]
rs34365981	0.93[ASN][1000 genomes]
rs34870295	0.85[ASN][1000 genomes]
rs35862056	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4274955	0.85[CEU][hapmap]
rs4392600	0.85[CEU][hapmap]
rs4426897	0.90[CEU][hapmap]
rs4513668	0.81[CEU][hapmap]
rs62366269	0.96[ASN][1000 genomes]
rs62368677	0.82[ASN][1000 genomes]
rs62368679	0.87[ASN][1000 genomes]
rs6452419	0.90[CEU][hapmap]
rs67002381	0.85[AMR][1000 genomes]
rs6859225	0.94[CEU][hapmap]
rs6869288	0.85[CEU][hapmap]
rs6871860	0.81[CEU][hapmap]
rs6874029	0.81[CEU][hapmap]
rs6887473	0.85[ASN][1000 genomes]
rs6890850	0.83[CEU][hapmap]
rs71636282	0.91[ASN][1000 genomes]
rs72773052	0.88[ASN][1000 genomes]
rs7702047	0.81[CEU][hapmap]
rs7707981	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7709916	0.85[CEU][hapmap]
rs7711576	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7717663	0.85[CEU][hapmap]
rs7720445	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7721321	0.85[CEU][hapmap]
rs7725320	0.85[CEU][hapmap]
rs7726379	0.95[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:87 , 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	chr5:80893000-80900400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:80893600-80905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:80893600-80905600	Weak transcription	Aorta	Aorta
19	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:80893800-80903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:80894000-80901600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:80894400-80905200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:80894400-80905400	Weak transcription	Fetal Brain Female	brain
24	chr5:80894400-80905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:80894600-80905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:80894600-80905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:80894600-80905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:80894600-80905600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:80894600-80905600	Weak transcription	Left Ventricle	heart
30	chr5:80894800-80900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:80894800-80905400	Weak transcription	Fetal Kidney	kidney
32	chr5:80894800-80905600	Weak transcription	Adipose Nuclei	Adipose
33	chr5:80895000-80900200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:80895000-80905400	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:80895000-80905600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:80895200-80905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:80895400-80904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:80895400-80905400	Weak transcription	Liver	Liver
40	chr5:80895400-80905400	Weak transcription	Ovary	ovary
41	chr5:80895600-80909200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:80895800-80899800	Strong transcription	Dnd41	blood
43	chr5:80895800-80904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:80895800-80904800	Weak transcription	Fetal Lung	lung
45	chr5:80895800-80905800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
48	chr5:80897200-80911800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:80897400-80905600	Weak transcription	Esophagus	oesophagus
50	chr5:80897600-80905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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