Variant report

Variant	rs6997739
Chromosome Location	chr8:51365291-51365292
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10808829	0.82[CHB][hapmap]
rs10957910	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10957914	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs10957927	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1114500	0.82[CHB][hapmap]
rs1114808	0.82[CHB][hapmap]
rs11781401	0.82[CHB][hapmap]
rs11785117	0.86[ASW][hapmap];0.83[MKK][hapmap]
rs12543175	0.81[EUR][1000 genomes]
rs12544937	0.81[EUR][1000 genomes]
rs12546744	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs13258865	0.82[CHB][hapmap]
rs1383815	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1481467	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1481468	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1481482	0.82[CHB][hapmap]
rs1483643	0.82[CHB][hapmap]
rs1483644	0.82[CHB][hapmap]
rs1904997	0.82[CHB][hapmap]
rs1994031	0.82[CHB][hapmap]
rs2128000	0.82[CHB][hapmap]
rs2170373	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2251415	0.82[CHB][hapmap]
rs2448941	0.82[CHB][hapmap]
rs2467205	0.82[CHB][hapmap]
rs2623225	0.82[CHB][hapmap]
rs2625733	0.86[ASW][hapmap];0.83[MKK][hapmap]
rs2625736	0.82[CHB][hapmap]
rs310558	0.82[CHB][hapmap]
rs4442158	0.82[CHB][hapmap]
rs4873459	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7009024	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7827319	0.82[CHB][hapmap]
rs7839067	0.82[CHB][hapmap]
rs996524	0.82[CHB][hapmap]

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	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916262	chr8:51322341-51437077	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr8:51361800-51365600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:51363200-51365400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:51363600-51365800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:51363800-51365400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:51364000-51365800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr8:51364200-51365600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:51364800-51366200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51364800-51369800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:51365000-51365400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr8:51365000-51365600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:51365000-51365800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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