Variant report

Variant	rs2617009
Chromosome Location	chr8:4496463-4496464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12545434	1.00[LWK][hapmap]
rs1478267	1.00[YRI][hapmap]
rs1478279	0.81[CEU][hapmap]
rs1478283	0.86[CEU][hapmap]
rs17070439	1.00[LWK][hapmap]
rs17070685	1.00[LWK][hapmap]
rs17070690	1.00[LWK][hapmap]
rs17418550	1.00[YRI][hapmap]
rs2126874	1.00[YRI][hapmap]
rs2126876	1.00[YRI][hapmap]
rs2616983	0.81[CEU][hapmap]
rs2616994	0.81[CEU][hapmap]
rs2616995	0.86[CEU][hapmap]
rs2617000	0.90[CEU][hapmap]
rs2617002	0.86[CEU][hapmap]
rs2617008	0.86[CEU][hapmap]
rs2617016	1.00[YRI][hapmap]
rs2617041	1.00[ASW][hapmap];0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap]
rs2617042	0.92[CHB][hapmap]
rs2724958	0.81[CEU][hapmap]
rs2724974	0.91[CEU][hapmap]
rs2724975	0.91[CEU][hapmap]
rs2725003	0.82[CEU][hapmap]
rs2725016	1.00[YRI][hapmap]
rs4875373	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs748274	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv34055	chr8:4486892-4745355	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4494800-4497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:4495000-4497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:4496000-4496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:4496200-4496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:4496200-4496600	Enhancers	H9 Cell Line	embryonic stem cell

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