Variant report

Variant	rs73005478
Chromosome Location	chr3:150116519-150116520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55752233	0.83[AFR][1000 genomes]
rs55857164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56203514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56782857	0.87[AFR][1000 genomes]
rs58143991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59185841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653532	1.00[AMR][1000 genomes]
rs60274646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61485586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007757	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917800	0.88[AFR][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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:150109200-150124400	Weak transcription	HSMM	muscle
4	chr3:150109200-150124600	Weak transcription	NHLF	lung
5	chr3:150109600-150116800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:150109600-150121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:150112000-150116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:150113200-150116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:150114600-150118600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:150114600-150118800	Weak transcription	Fetal Intestine Small	intestine
11	chr3:150114800-150117000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:150115000-150116800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:150115400-150117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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