Variant report

Variant	rs12484116
Chromosome Location	chr22:28514547-28514548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12484055	1.00[AFR][1000 genomes]
rs134190	1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs134195	0.90[CHB][hapmap];1.00[AFR][1000 genomes]
rs135646	0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs135654	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs16985863	0.81[JPT][hapmap]
rs16986280	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs2076505	0.83[JPT][hapmap]
rs2235713	0.81[JPT][hapmap]
rs5762543	1.00[AFR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
6	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
9	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
11	chr22:28509200-28514800	Weak transcription	Fetal Brain Female	brain
12	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:28510000-28515200	Weak transcription	Fetal Brain Male	brain
15	chr22:28512000-28516000	Enhancers	Fetal Heart	heart
16	chr22:28512800-28516600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:28513000-28515000	Weak transcription	Psoas Muscle	Psoas
18	chr22:28513000-28516400	Weak transcription	Aorta	Aorta
19	chr22:28513000-28516400	Weak transcription	Fetal Lung	lung
20	chr22:28513000-28519000	Weak transcription	Ovary	ovary
21	chr22:28513200-28514600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:28513200-28514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:28513200-28514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:28513200-28516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28513200-28516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:28513200-28516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:28513200-28517800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:28513200-28521400	Weak transcription	Fetal Stomach	stomach
29	chr22:28513200-28527400	Weak transcription	Left Ventricle	heart
30	chr22:28513200-28538000	Weak transcription	Dnd41	blood
31	chr22:28513400-28516400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:28513400-28516400	Weak transcription	Fetal Muscle Leg	muscle
33	chr22:28513600-28514800	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:28513600-28515000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:28513600-28516200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:28513600-28516200	Weak transcription	Osteobl	bone
37	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:28513600-28516400	Weak transcription	HSMM	muscle
40	chr22:28513600-28516400	Weak transcription	NH-A	brain
41	chr22:28513600-28516400	Weak transcription	NHDF-Ad	bronchial
42	chr22:28513600-28516600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:28513800-28515000	Weak transcription	HSMMtube	muscle
44	chr22:28514000-28520000	Weak transcription	NHEK	skin
45	chr22:28514200-28516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:28514400-28515200	Enhancers	Adipose Nuclei	Adipose

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