Variant report

Variant	rs8179803
Chromosome Location	chr2:56472490-56472491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1159916	0.86[CHB][hapmap];0.86[AMR][1000 genomes]
rs12620171	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17268702	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17268813	1.00[YRI][hapmap]
rs17268820	1.00[YRI][hapmap]
rs214036	1.00[YRI][hapmap]
rs2193478	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4140787	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs4671277	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672097	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs4672098	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4672099	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4672103	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56399326	0.84[EUR][1000 genomes]
rs6754349	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568979	0.82[CHB][hapmap]

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	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	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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	chr2:56470400-56475400	Weak transcription	Psoas Muscle	Psoas
2	chr2:56471400-56472600	Enhancers	Fetal Intestine Large	intestine
3	chr2:56471400-56472600	Enhancers	Fetal Intestine Small	intestine
4	chr2:56471800-56472800	Enhancers	Fetal Heart	heart
5	chr2:56471800-56473000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:56472000-56472600	Enhancers	Left Ventricle	heart
7	chr2:56472000-56472800	Enhancers	HMEC	breast
8	chr2:56472000-56473000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56472000-56473000	Enhancers	HSMM	muscle
10	chr2:56472000-56473000	Enhancers	HSMMtube	muscle
11	chr2:56472400-56473000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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