Variant report

Variant	rs1108074
Chromosome Location	chr12:2333484-2333485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1006737	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10459125	0.92[CEU][hapmap]
rs10744559	0.89[CEU][hapmap]
rs10774030	0.88[CEU][hapmap]
rs10774033	0.91[CEU][hapmap]
rs10774034	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774035	0.82[CHB][hapmap]
rs10848627	0.88[CEU][hapmap]
rs10848628	0.92[CEU][hapmap]
rs10848629	0.89[CEU][hapmap]
rs10848632	0.92[CEU][hapmap]
rs10848633	0.92[CEU][hapmap]
rs10848634	0.92[CEU][hapmap]
rs10848635	0.92[CEU][hapmap]
rs10848636	0.92[CEU][hapmap]
rs10848637	0.82[CEU][hapmap]
rs10848642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11062145	0.89[CEU][hapmap]
rs11062156	0.92[CEU][hapmap]
rs11062159	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11062161	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11062162	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11062166	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11062170	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1108073	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108075	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12315711	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12424245	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159100	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2190771	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238046	0.86[CEU][hapmap]
rs2238048	0.85[CEU][hapmap]
rs2238049	0.83[CEU][hapmap]
rs2238050	0.92[CEU][hapmap]
rs2238052	0.88[CEU][hapmap]
rs2238053	0.92[CEU][hapmap]
rs2238054	0.92[CEU][hapmap]
rs2239018	0.92[CEU][hapmap]
rs2239019	0.89[CEU][hapmap]
rs2283287	0.88[CEU][hapmap]
rs2283288	0.88[CEU][hapmap]
rs3922316	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4765670	0.88[CEU][hapmap]
rs4765902	0.92[CEU][hapmap]
rs4765904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4765905	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs758170	0.82[CHB][hapmap]
rs758171	0.86[CEU][hapmap]
rs758173	0.92[CEU][hapmap]
rs758174	0.88[CEU][hapmap]
rs769087	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7957545	0.89[CEU][hapmap]
rs7965923	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2320400-2335800	Weak transcription	NHLF	lung
2	chr12:2323200-2340200	Enhancers	Fetal Heart	heart
3	chr12:2323600-2336000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:2323800-2338800	Weak transcription	Spleen	Spleen
5	chr12:2325800-2334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:2326000-2334600	Weak transcription	Osteobl	bone
7	chr12:2327200-2336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:2328600-2334200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:2328800-2333600	Weak transcription	Fetal Lung	lung
10	chr12:2329800-2338800	Weak transcription	Right Atrium	heart
11	chr12:2330400-2335000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:2330600-2333600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:2330600-2335400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:2331000-2335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:2332800-2336000	Weak transcription	Right Ventricle	heart
16	chr12:2333200-2333800	Enhancers	Left Ventricle	heart
17	chr12:2333400-2333800	Enhancers	Aorta	Aorta

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