Variant report

Variant	rs4672101
Chromosome Location	chr2:56475484-56475485
allele	A/C/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:6)

rs_ID	r²[population]
rs11695736	0.92[ASN][1000 genomes]
rs17047642	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869529	0.92[ASN][1000 genomes]
rs34380906	0.92[ASN][1000 genomes]
rs72923427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72923443	0.98[EUR][1000 genomes];1.00[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	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56472600-56476800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:56472600-56477600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:56473000-56476200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56473000-56487200	Weak transcription	HSMM	muscle
5	chr2:56474200-56478400	Enhancers	Fetal Heart	heart
6	chr2:56475400-56476000	Enhancers	Lung	lung
7	chr2:56475400-56476600	Enhancers	Spleen	Spleen
8	chr2:56475400-56477000	Enhancers	Right Ventricle	heart
9	chr2:56475400-56477200	Enhancers	Psoas Muscle	Psoas
10	chr2:56475400-56477200	Enhancers	Right Atrium	heart
11	chr2:56475400-56477800	Enhancers	Left Ventricle	heart

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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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