Variant report

Variant	rs10493760
Chromosome Location	chr1:85600000-85600001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85596438..85598886-chr1:85599914..85602285,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1458400	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17121199	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs17121667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17121750	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17121810	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17121837	0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17121989	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1870326	1.00[AMR][1000 genomes]
rs7549898	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85565000-85600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85594800-85600000	Weak transcription	NHLF	lung
3	chr1:85594800-85614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:85595200-85600400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:85598400-85600200	Weak transcription	Liver	Liver
6	chr1:85598400-85600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:85598400-85602000	Weak transcription	Gastric	stomach
8	chr1:85598400-85603600	Weak transcription	Right Atrium	heart
9	chr1:85598400-85608400	Weak transcription	Pancreas	Pancrea
10	chr1:85598600-85608600	Weak transcription	Left Ventricle	heart
11	chr1:85598800-85602000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85599200-85600600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:85599400-85600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85599400-85600800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:85599400-85601400	Enhancers	Fetal Lung	lung
16	chr1:85599400-85602200	Enhancers	Hela-S3	cervix
17	chr1:85599400-85604400	Enhancers	Fetal Intestine Large	intestine
18	chr1:85599600-85600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:85599600-85600400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:85599600-85600800	Enhancers	Colonic Mucosa	Colon
21	chr1:85599600-85603800	Enhancers	Fetal Intestine Small	intestine
22	chr1:85599800-85600600	Weak transcription	Lung	lung
23	chr1:85599800-85602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:85599800-85602800	Weak transcription	Fetal Heart	heart
25	chr1:85600000-85601400	Enhancers	NHLF	lung

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