Variant report

Variant	rs12050884
Chromosome Location	chr15:40306334-40306335
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10518679	1.00[CHB][hapmap]
rs11070241	0.85[EUR][1000 genomes]
rs12050693	0.97[ASN][1000 genomes]
rs12591670	1.00[CEU][hapmap]
rs12901892	1.00[CEU][hapmap]
rs12913170	1.00[CHB][hapmap]
rs16970168	1.00[CEU][hapmap];0.93[ASN][1000 genomes]
rs16970197	1.00[CEU][hapmap]
rs16970202	1.00[CEU][hapmap]
rs17723097	1.00[CHB][hapmap]
rs2279580	0.91[ASN][1000 genomes]
rs2291623	1.00[CEU][hapmap];0.97[ASN][1000 genomes]
rs2412460	0.86[ASN][1000 genomes]
rs2898974	1.00[CEU][hapmap];0.97[ASN][1000 genomes]
rs7178419	0.85[EUR][1000 genomes]
rs73390620	0.97[ASN][1000 genomes]
rs8034578	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40292000-40306600	Strong transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:40292600-40306400	Strong transcription	Primary T cells from cord blood	blood
4	chr15:40292800-40306400	Strong transcription	Adipose Nuclei	Adipose
5	chr15:40293000-40306600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40293000-40306800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
8	chr15:40294400-40306400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr15:40296000-40311400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:40296200-40313000	Weak transcription	Psoas Muscle	Psoas
11	chr15:40296400-40306400	Weak transcription	Stomach Mucosa	stomach
12	chr15:40296400-40313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
14	chr15:40298800-40306400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:40299000-40306600	Strong transcription	Fetal Lung	lung
16	chr15:40299000-40306600	Strong transcription	Left Ventricle	heart
17	chr15:40299000-40307000	Strong transcription	NHLF	lung
18	chr15:40299000-40308400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:40299400-40306600	Strong transcription	Rectal Smooth Muscle	rectum
20	chr15:40299600-40307000	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:40300200-40306400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:40301000-40306600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:40301000-40311600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:40301200-40313000	Weak transcription	K562	blood
26	chr15:40301200-40313200	Weak transcription	Fetal Heart	heart
27	chr15:40301800-40311200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr15:40302000-40306800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:40302400-40306400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:40302400-40306400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr15:40302400-40306800	Strong transcription	Pancreas	Pancrea
32	chr15:40302400-40307200	Strong transcription	HUVEC	blood vessel
33	chr15:40303000-40306400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:40303000-40306600	Strong transcription	A549	lung
35	chr15:40303000-40329600	Strong transcription	Liver	Liver
36	chr15:40303200-40308400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:40303200-40310600	Weak transcription	Gastric	stomach
38	chr15:40303600-40306400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:40303600-40306400	Strong transcription	Fetal Kidney	kidney
40	chr15:40303600-40306400	Strong transcription	Osteobl	bone
41	chr15:40303600-40307600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr15:40303600-40307800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr15:40303600-40309000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr15:40303800-40308000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr15:40303800-40308600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:40303800-40320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:40304000-40307800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:40304000-40308000	Strong transcription	HSMMtube	muscle
49	chr15:40304000-40308400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr15:40304000-40310000	Weak transcription	Brain Angular Gyrus	brain

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