Variant report

Variant	rs3000134
Chromosome Location	chr1:79841867-79841868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11811462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021904	0.83[ASN][1000 genomes]
rs12023367	0.91[ASN][1000 genomes]
rs12027718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030013	0.91[ASN][1000 genomes]
rs12034665	0.83[ASN][1000 genomes]
rs12036905	0.83[ASN][1000 genomes]
rs12039488	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12039867	0.83[ASN][1000 genomes]
rs12039923	0.83[ASN][1000 genomes]
rs12040033	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040237	0.83[ASN][1000 genomes]
rs12040880	0.83[ASN][1000 genomes]
rs12041180	0.83[ASN][1000 genomes]
rs12042159	0.83[ASN][1000 genomes]
rs12043955	0.83[ASN][1000 genomes]
rs12044515	0.83[ASN][1000 genomes]
rs12044896	0.83[ASN][1000 genomes]
rs12044901	0.83[ASN][1000 genomes]
rs12045663	0.83[ASN][1000 genomes]
rs12045991	0.83[ASN][1000 genomes]
rs12046726	0.83[ASN][1000 genomes]
rs12047951	0.83[ASN][1000 genomes]
rs12048746	0.83[ASN][1000 genomes]
rs12049068	0.83[ASN][1000 genomes]
rs17103209	0.83[ASN][1000 genomes]
rs17103224	0.83[ASN][1000 genomes]
rs17103273	0.83[ASN][1000 genomes]
rs2088103	0.83[ASN][1000 genomes]
rs2132054	0.83[ASN][1000 genomes]
rs3000143	0.83[ASN][1000 genomes]
rs3000144	0.83[ASN][1000 genomes]
rs3000145	0.83[ASN][1000 genomes]
rs3000146	0.83[ASN][1000 genomes]
rs3000157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015018	0.83[ASN][1000 genomes]
rs3015069	1.00[ASN][1000 genomes]
rs9425165	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv830337	chr1:79791879-79913241	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546633	chr1:79794719-79877035	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871649	chr1:79807447-79924175	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv462150	chr1:79835066-79873161	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv546634	chr1:79835066-79873161	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv462161	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv462173	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv470721	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv546635	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 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	chr1:79839600-79842800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:79840200-79842200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:79840200-79842400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:79840200-79842400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:79840400-79842000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:79840400-79842400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:79840600-79842400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:79840800-79842200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:79841200-79842400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:79841400-79842200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:79841800-79842200	Enhancers	HUVEC	blood vessel
12	chr1:79841800-79843600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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