Variant report

Variant	rs820573
Chromosome Location	chr3:112402791-112402792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112395899..112398398-chr3:112400973..112403700,2	K562	blood:
2	chr3:112401424..112402927-chr3:112404953..112407128,2	K562	blood:
3	chr3:112400609..112402894-chr3:112402921..112405427,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1154270	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1249909	0.83[AFR][1000 genomes]
rs1249912	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs820569	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs820571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs820572	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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112391400-112407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:112396400-112404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:112397000-112406000	Weak transcription	K562	blood
4	chr3:112397400-112405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112400400-112404000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:112400400-112408200	Enhancers	NHLF	lung
7	chr3:112400600-112406600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112400600-112408800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:112401000-112402800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:112401000-112408800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:112401200-112403400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:112401200-112405200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:112401200-112406000	Enhancers	A549	lung
14	chr3:112401200-112413800	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:112401400-112403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:112401400-112403400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:112401400-112403600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:112401400-112408200	Enhancers	Osteobl	bone
19	chr3:112401600-112404000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:112401600-112404200	Weak transcription	HSMMtube	muscle
21	chr3:112401600-112407000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:112401800-112402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:112401800-112402800	Weak transcription	NHEK	skin
24	chr3:112401800-112403000	Weak transcription	HSMM	muscle
25	chr3:112401800-112404200	Weak transcription	NH-A	brain
26	chr3:112401800-112407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:112402000-112403400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:112402000-112403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:112402400-112403400	Enhancers	HMEC	breast
30	chr3:112402600-112403200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:112402600-112407800	Enhancers	NHDF-Ad	bronchial

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