Variant report

Variant	rs7960336
Chromosome Location	chr12:121223793-121223794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121223533..121225993-chr12:121234568..121236764,2	K562	blood:

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

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

rs_ID	r²[population]
rs10849804	1.00[CHB][hapmap];0.93[YRI][hapmap]
rs11065208	0.85[JPT][hapmap]
rs11065211	0.85[JPT][hapmap]
rs11065212	0.85[JPT][hapmap]
rs11065230	0.86[JPT][hapmap]
rs11065270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs11065278	0.83[AFR][1000 genomes]
rs11065295	1.00[EUR][1000 genomes]
rs11065314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs11829904	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs11833718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs12296423	0.85[JPT][hapmap]
rs12306138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1533810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs1533811	1.00[EUR][1000 genomes]
rs4559761	0.85[JPT][hapmap]
rs59757908	1.00[EUR][1000 genomes]
rs60238091	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61523086	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6489783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs6490302	0.86[JPT][hapmap]
rs695950	0.86[JPT][hapmap]
rs7133413	1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[ASN][1000 genomes]
rs7301612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7303170	0.85[JPT][hapmap]
rs7307973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs7316132	1.00[EUR][1000 genomes]
rs7316417	0.88[CHB][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7956848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958698	0.85[JPT][hapmap]
rs7972912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949443	0.85[JPT][hapmap]

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
3	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
6	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:121211400-121260800	Weak transcription	Gastric	stomach
9	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
10	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
11	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
12	chr12:121212800-121228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:121213400-121224800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:121215000-121224200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:121220600-121225200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:121221000-121225600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:121221000-121227800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:121221200-121223800	Weak transcription	K562	blood
21	chr12:121221200-121226200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:121221200-121226400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:121221200-121229600	Weak transcription	Osteobl	bone
24	chr12:121221200-121233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:121221200-121233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:121221400-121224200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:121221400-121225600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:121221400-121228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:121221400-121229800	Weak transcription	NHDF-Ad	bronchial
31	chr12:121221400-121230400	Weak transcription	HMEC	breast
32	chr12:121221400-121231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:121221400-121232800	Weak transcription	A549	lung
34	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
35	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:121222000-121224400	Weak transcription	Brain Germinal Matrix	brain
38	chr12:121222000-121227800	Weak transcription	Fetal Intestine Small	intestine
39	chr12:121222000-121229400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:121222000-121233200	Weak transcription	NHEK	skin
41	chr12:121222000-121233800	Weak transcription	Fetal Stomach	stomach
42	chr12:121222200-121225200	Weak transcription	Psoas Muscle	Psoas
43	chr12:121222200-121225600	Weak transcription	Left Ventricle	heart
44	chr12:121222200-121225800	Weak transcription	Fetal Lung	lung
45	chr12:121222200-121227800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:121222200-121228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:121222200-121229400	Weak transcription	HepG2	liver
48	chr12:121222200-121230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:121222200-121231200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:121222200-121231200	Weak transcription	Fetal Brain Female	brain

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