Variant report

Variant	rs935258
Chromosome Location	chr12:20536679-20536680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10505865	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10732533	0.89[ASN][1000 genomes]
rs10732534	0.89[ASN][1000 genomes]
rs10743369	0.91[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10743370	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743372	0.89[ASN][1000 genomes]
rs10743373	0.89[ASN][1000 genomes]
rs10743374	0.89[ASN][1000 genomes]
rs10770649	1.00[CHB][hapmap]
rs10770650	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10770651	0.91[ASN][1000 genomes]
rs10770652	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10770653	0.89[ASN][1000 genomes]
rs10770654	0.86[ASN][1000 genomes]
rs10770656	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10841501	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841510	0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs10841512	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11045206	0.82[ASN][1000 genomes]
rs11045207	0.82[ASN][1000 genomes]
rs11045211	1.00[CHB][hapmap]
rs11045218	0.82[ASN][1000 genomes]
rs11045220	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11045221	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs11045222	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11045223	0.80[ASN][1000 genomes]
rs11045224	0.91[ASN][1000 genomes]
rs11045225	0.91[ASN][1000 genomes]
rs11045226	0.91[ASN][1000 genomes]
rs11045227	0.89[ASN][1000 genomes]
rs11045228	0.89[ASN][1000 genomes]
rs12297116	0.80[ASN][1000 genomes]
rs12370745	0.89[ASN][1000 genomes]
rs12370763	0.83[ASN][1000 genomes]
rs12372457	0.86[ASN][1000 genomes]
rs1348583	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1373572	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1373573	0.95[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1444628	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444629	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444630	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444634	0.91[ASN][1000 genomes]
rs1444635	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444641	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1444643	0.91[ASN][1000 genomes]
rs1444644	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444645	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1444646	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1530445	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16922851	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1822752	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1822756	0.95[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1838447	0.91[ASN][1000 genomes]
rs1838448	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2417850	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3919734	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs4537840	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4762955	0.91[ASN][1000 genomes]
rs5014033	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs5014034	0.89[ASN][1000 genomes]
rs5014035	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs5014036	0.89[ASN][1000 genomes]
rs5014037	0.89[ASN][1000 genomes]
rs5014039	0.89[ASN][1000 genomes]
rs5014040	0.89[ASN][1000 genomes]
rs60593141	0.80[ASN][1000 genomes]
rs60977432	0.82[ASN][1000 genomes]
rs6487083	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6487084	0.89[ASN][1000 genomes]
rs6487085	0.89[ASN][1000 genomes]
rs6487086	0.89[ASN][1000 genomes]
rs7136586	0.80[ASN][1000 genomes]
rs71450706	0.91[ASN][1000 genomes]
rs7305462	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7310385	0.91[ASN][1000 genomes]
rs7314448	0.89[ASN][1000 genomes]
rs73232485	0.80[ASN][1000 genomes]
rs7954501	0.91[ASN][1000 genomes]
rs7957567	0.91[ASN][1000 genomes]
rs7964703	0.83[YRI][hapmap]
rs7967538	0.91[ASN][1000 genomes]
rs978349	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs9805045	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20525600-20543000	Weak transcription	NHDF-Ad	bronchial
2	chr12:20526400-20537600	Weak transcription	Fetal Stomach	stomach
3	chr12:20526600-20536800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:20526800-20541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20528600-20542000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:20533000-20541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:20533200-20544800	Weak transcription	Right Atrium	heart
8	chr12:20534000-20536800	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:20534600-20542200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:20535400-20536800	Enhancers	A549	lung
11	chr12:20535400-20537400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:20535600-20538000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:20536400-20536800	Enhancers	Aorta	Aorta
14	chr12:20536400-20536800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:20536400-20537000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:20536400-20540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:20536600-20536800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:20536600-20536800	Enhancers	Left Ventricle	heart
19	chr12:20536600-20536800	Flanking Active TSS	Right Ventricle	heart
20	chr12:20536600-20536800	Genic enhancers	Hela-S3	cervix

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