Variant report

Variant	rs12062565
Chromosome Location	chr1:95114614-95114615
allele	C/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]
rs12061340	0.91[AFR][1000 genomes]
rs12064136	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064216	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078423	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57449231	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698945	1.00[TSI][hapmap]
rs879596	1.00[ASW][hapmap]

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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
2	chr1:95109200-95114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:95109200-95114800	Enhancers	HSMM	muscle
4	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:95110600-95115000	Enhancers	NH-A	brain
6	chr1:95110600-95118800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:95110600-95119000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:95110800-95115400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:95111800-95114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:95112000-95114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:95112200-95119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:95112600-95119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:95112600-95119000	Weak transcription	Placenta	Placenta
14	chr1:95113000-95119000	Weak transcription	Lung	lung
15	chr1:95113400-95114800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:95113400-95114800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:95113600-95115000	Enhancers	NHLF	lung
18	chr1:95113600-95119000	Weak transcription	Pancreas	Pancrea
19	chr1:95113600-95119200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:95114000-95114800	Enhancers	Stomach Mucosa	stomach
21	chr1:95114200-95114800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:95114200-95115000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:95114400-95119000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:95114600-95114800	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:95114600-95114800	Bivalent Enhancer	Osteobl	bone
26	chr1:95114600-95115600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:95114600-95116000	Enhancers	Hela-S3	cervix
28	chr1:95114600-95116200	Enhancers	HMEC	breast
29	chr1:95114600-95116400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:95114600-95116400	Enhancers	NHEK	skin
31	chr1:95114600-95117000	Weak transcription	Left Ventricle	heart
32	chr1:95114600-95118800	Weak transcription	Ovary	ovary
33	chr1:95114600-95119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:95114600-95119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:95114600-95119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:95114600-95119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:95114600-95119000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:95114600-95119000	Weak transcription	Aorta	Aorta
39	chr1:95114600-95119000	Weak transcription	Right Atrium	heart
40	chr1:95114600-95119400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:95114600-95123400	Weak transcription	NHDF-Ad	bronchial
42	chr1:95114600-95124000	Weak transcription	Small Intestine	intestine
43	chr1:95114600-95126600	Weak transcription	Esophagus	oesophagus

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