Variant report

Variant	rs12772414
Chromosome Location	chr10:91278543-91278544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12570001	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160051	0.89[CEU][hapmap]
rs170001	0.81[ASN][1000 genomes]
rs188570	0.92[CEU][hapmap]
rs303180	0.89[CEU][hapmap]
rs303186	0.92[CEU][hapmap]
rs303187	0.82[EUR][1000 genomes]
rs303200	0.92[CEU][hapmap]
rs303201	0.89[CEU][hapmap]
rs303207	0.92[CEU][hapmap]
rs304467	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7087280	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91275600-91279400	Enhancers	HSMM	muscle
2	chr10:91276000-91278800	Enhancers	Pancreas	Pancrea
3	chr10:91276000-91281200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:91276200-91281000	Weak transcription	Fetal Lung	lung
5	chr10:91276400-91280200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:91276400-91285600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:91276600-91278800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:91276600-91279000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:91276600-91279400	Weak transcription	Fetal Stomach	stomach
10	chr10:91276600-91282000	Weak transcription	Hela-S3	cervix
11	chr10:91276600-91282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:91276600-91282200	Weak transcription	A549	lung
13	chr10:91276600-91282200	Weak transcription	NHEK	skin
14	chr10:91276600-91282600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:91276600-91283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:91276600-91284400	Enhancers	Fetal Heart	heart
17	chr10:91276800-91278600	Enhancers	Left Ventricle	heart
18	chr10:91276800-91280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:91277400-91280000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:91277400-91280200	Enhancers	Osteobl	bone
21	chr10:91277400-91281800	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:91277600-91279200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:91277600-91279400	Enhancers	HSMMtube	muscle
24	chr10:91277600-91279600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:91277800-91278600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr10:91277800-91279400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:91277800-91279400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:91277800-91279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:91277800-91279600	Enhancers	NHLF	lung
30	chr10:91277800-91282400	Enhancers	NHDF-Ad	bronchial
31	chr10:91278000-91279600	Enhancers	NH-A	brain
32	chr10:91278200-91278800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:91278200-91280600	Weak transcription	Right Ventricle	heart
34	chr10:91278200-91280800	Weak transcription	Right Atrium	heart
35	chr10:91278200-91283000	Weak transcription	Aorta	Aorta
36	chr10:91278200-91285800	Weak transcription	Gastric	stomach
37	chr10:91278200-91286000	Weak transcription	Colon Smooth Muscle	Colon
38	chr10:91278200-91286400	Weak transcription	Lung	lung
39	chr10:91278400-91278800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:91278400-91279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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