Variant report

Variant	rs62253043
Chromosome Location	chr3:43783524-43783525
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43782817..43785869-chr3:43787296..43789158,3	K562	blood:
2	chr3:43782300..43785173-chr3:43789448..43791697,3	K562	blood:
3	chr3:43776786..43779260-chr3:43782048..43784711,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs41289586	1.00[AFR][1000 genomes]
rs62250949	1.00[AFR][1000 genomes]
rs62250950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62250952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62252988	1.00[AFR][1000 genomes]
rs62253029	1.00[AFR][1000 genomes];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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876733	chr3:43768018-43854669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr3:43755600-43784000	Weak transcription	Ovary	ovary
2	chr3:43761600-43784200	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:43775800-43783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:43775800-43783800	Weak transcription	Adipose Nuclei	Adipose
5	chr3:43775800-43784000	Weak transcription	Right Atrium	heart
6	chr3:43776000-43784400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:43776000-43789200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:43778200-43786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:43778600-43784000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:43778600-43784000	Weak transcription	Right Ventricle	heart
11	chr3:43778800-43783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:43778800-43784000	Weak transcription	NHLF	lung
13	chr3:43778800-43784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:43778800-43784200	Weak transcription	Osteobl	bone
15	chr3:43778800-43785800	Weak transcription	Pancreas	Pancrea
16	chr3:43779000-43783800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:43779000-43784000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:43779000-43784200	Weak transcription	NHDF-Ad	bronchial
19	chr3:43779400-43784200	Weak transcription	HSMM	muscle
20	chr3:43780000-43784000	Weak transcription	Brain Substantia Nigra	brain
21	chr3:43780000-43784200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:43780000-43784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:43780200-43783800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:43780200-43783800	Weak transcription	Fetal Intestine Large	intestine
25	chr3:43780200-43783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:43780200-43784200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:43780200-43784200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:43780600-43783800	Weak transcription	Fetal Intestine Small	intestine
29	chr3:43780800-43783800	Weak transcription	Hela-S3	cervix
30	chr3:43780800-43784000	Weak transcription	Liver	Liver
31	chr3:43782800-43784400	Weak transcription	Placenta	Placenta
32	chr3:43783200-43785600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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