Variant report

Variant	rs73028684
Chromosome Location	chr2:179095860-179095861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10174910	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10205083	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11894754	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13398301	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179091200-179101200	Weak transcription	Psoas Muscle	Psoas
4	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
5	chr2:179092200-179102400	Weak transcription	NHDF-Ad	bronchial
6	chr2:179092800-179098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:179093800-179096600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:179094200-179096200	Enhancers	HMEC	breast
9	chr2:179094400-179096000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:179094600-179096000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:179095200-179098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:179095600-179096400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179095600-179097800	Weak transcription	NHEK	skin
14	chr2:179095800-179096200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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