Variant report

Variant	rs74132493
Chromosome Location	chr1:185411511-185411512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10911691	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs55785813	1.00[AMR][1000 genomes]
rs55868516	1.00[AMR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs57402553	1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs59295359	1.00[AMR][1000 genomes]
rs60005347	1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132217	1.00[AMR][1000 genomes]
rs74132289	1.00[AMR][1000 genomes]
rs74132300	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74132952	1.00[AMR][1000 genomes]
rs74132956	1.00[AMR][1000 genomes]
rs74132958	1.00[AMR][1000 genomes]
rs74132959	1.00[AMR][1000 genomes]
rs74132961	1.00[AMR][1000 genomes]
rs74133203	1.00[AMR][1000 genomes]
rs74133206	1.00[AMR][1000 genomes]
rs74133208	1.00[AMR][1000 genomes]
rs74133210	1.00[AMR][1000 genomes]
rs74133214	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1001493	chr1:185408956-185436842	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185407000-185412000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:185407400-185412200	Weak transcription	Right Atrium	heart
3	chr1:185407800-185411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:185407800-185411600	Enhancers	Hela-S3	cervix
5	chr1:185407800-185411800	Enhancers	HSMMtube	muscle
6	chr1:185408200-185411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:185408200-185411600	Enhancers	Fetal Intestine Large	intestine
8	chr1:185408200-185411600	Enhancers	Fetal Intestine Small	intestine
9	chr1:185408200-185411600	Enhancers	HMEC	breast
10	chr1:185408200-185411600	Enhancers	NHEK	skin
11	chr1:185408200-185411800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:185408200-185411800	Enhancers	Placenta	Placenta
13	chr1:185408200-185412000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:185408600-185411600	Enhancers	Osteobl	bone
15	chr1:185409000-185412000	Enhancers	Fetal Heart	heart
16	chr1:185409600-185411600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:185410000-185411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:185410000-185411800	Enhancers	NH-A	brain
19	chr1:185410200-185412400	Enhancers	Fetal Kidney	kidney
20	chr1:185410400-185411600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:185410400-185411600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:185410400-185411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:185410400-185411600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:185410400-185411600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:185410400-185411600	Enhancers	Fetal Muscle Leg	muscle
26	chr1:185410400-185411800	Enhancers	HSMM	muscle
27	chr1:185410800-185411600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:185410800-185411600	Enhancers	Aorta	Aorta
29	chr1:185410800-185411600	Enhancers	Left Ventricle	heart
30	chr1:185410800-185411600	Enhancers	Right Ventricle	heart
31	chr1:185411000-185411800	Enhancers	A549	lung
32	chr1:185411400-185412000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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