Variant report

Variant	rs6711838
Chromosome Location	chr2:188839039-188839040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10178187	0.86[EUR][1000 genomes]
rs10179589	1.00[EUR][1000 genomes]
rs10931319	1.00[EUR][1000 genomes]
rs12999094	0.87[AFR][1000 genomes]
rs1400073	1.00[EUR][1000 genomes]
rs1516118	1.00[EUR][1000 genomes]
rs1516119	0.96[EUR][1000 genomes]
rs1516120	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1516130	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1850179	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1898909	1.00[EUR][1000 genomes]
rs1992281	0.86[EUR][1000 genomes]
rs2016373	1.00[EUR][1000 genomes]
rs2118998	0.84[EUR][1000 genomes]
rs2165153	1.00[EUR][1000 genomes]
rs2350194	1.00[EUR][1000 genomes]
rs4666747	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4667199	1.00[EUR][1000 genomes]
rs4667202	0.86[EUR][1000 genomes]
rs7419931	1.00[EUR][1000 genomes]
rs7571862	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188827600-188841200	Weak transcription	Aorta	Aorta
2	chr2:188837400-188840400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:188838800-188839200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:188838800-188841000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:188839000-188841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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