Variant report

Variant	rs73431771
Chromosome Location	chr7:119695149-119695150
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	chr7:119694463..119697306-chr7:119701303..119702892,2	K562	blood:
2	chr7:119694731..119696428-chr7:119698965..119701883,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59664899	1.00[AMR][1000 genomes]
rs61679179	1.00[AMR][1000 genomes]
rs73427951	1.00[AFR][1000 genomes]
rs73431784	1.00[AMR][1000 genomes]
rs73431795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474744	1.00[AMR][1000 genomes]
rs73485261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485277	1.00[AFR][1000 genomes]
rs73489144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470388	chr7:119464310-119790102	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2753623	chr7:119532049-119770049	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831112	chr7:119585169-119776619	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1024054	chr7:119638121-119700508	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv831113	chr7:119683515-119886277	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv521233	chr7:119686018-119697233	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119690800-119695200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:119691000-119695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:119692600-119696000	Enhancers	Osteobl	bone
4	chr7:119692800-119695800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:119692800-119695800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:119692800-119696000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:119692800-119696000	Enhancers	HSMMtube	muscle
8	chr7:119693200-119696000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:119693400-119696000	Enhancers	NHLF	lung
10	chr7:119693400-119696200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:119693400-119696400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:119693600-119696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:119693800-119695800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:119694000-119696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:119694400-119695200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:119694400-119696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:119694800-119695200	Weak transcription	Adipose Nuclei	Adipose
18	chr7:119694800-119696000	Enhancers	HMEC	breast
19	chr7:119694800-119696000	Enhancers	NH-A	brain
20	chr7:119695000-119695200	Enhancers	HSMM	muscle
21	chr7:119695000-119696000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:119695000-119696000	Enhancers	NHEK	skin
23	chr7:119695000-119696200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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