Variant report

Variant	rs73977703
Chromosome Location	chr2:173666314-173666315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12053036	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615893	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2194715	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769294	0.83[ASN][1000 genomes]
rs3769298	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769302	1.00[ASN][1000 genomes]
rs724997	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73977706	1.00[AFR][1000 genomes]
rs73977711	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173642600-173669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173654400-173671400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:173655600-173675600	Weak transcription	Fetal Heart	heart
4	chr2:173656600-173671600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173657800-173671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173659400-173671800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173662000-173666400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:173663000-173667400	Weak transcription	Aorta	Aorta
9	chr2:173664200-173671800	Weak transcription	Right Atrium	heart
10	chr2:173665000-173668400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr2:173666000-173666600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:173666200-173666800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:173666200-173668400	ZNF genes & repeats	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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