Variant report

Variant	rs12193795
Chromosome Location	chr6:70790601-70790602
allele	A/T
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:33)

rs_ID	r²[population]
rs10455227	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10945192	1.00[CHD][hapmap]
rs10945194	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11753925	1.00[CHD][hapmap]
rs12189656	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190028	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12190080	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12190708	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12190849	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12193977	0.82[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12194223	0.92[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12197024	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12198026	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12199202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199349	0.82[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12203835	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12204245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204286	0.85[AMR][1000 genomes]
rs12206771	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206806	0.82[CEU][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes]
rs12212536	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17711463	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28830576	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3806013	0.81[EUR][1000 genomes]
rs3806017	0.80[EUR][1000 genomes]
rs6455354	1.00[ASN][1000 genomes]
rs6901226	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903796	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6909759	0.96[AFR][1000 genomes]
rs6921039	1.00[ASW][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs716410	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs7349861	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1026836	chr6:70727747-70849014	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70767400-70809600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:70788400-70812000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:70790200-70791600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:70790200-70791600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:70790400-70790800	Enhancers	Fetal Brain Male	brain
6	chr6:70790400-70791200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:70790400-70791200	Enhancers	Brain Germinal Matrix	brain
8	chr6:70790400-70791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:70790400-70791600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:70790400-70791800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:70790600-70791000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:70790600-70791400	Enhancers	Cortex derived primary cultured neurospheres	brain

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