Variant report

Variant	rs964701
Chromosome Location	chr2:33427850-33427851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10167324	1.00[ASN][1000 genomes]
rs10167399	1.00[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10173416	0.89[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10195782	1.00[ASN][1000 genomes]
rs10201015	1.00[ASN][1000 genomes]
rs10201397	1.00[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10205515	1.00[ASN][1000 genomes]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11675702	0.89[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11886337	1.00[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13408945	1.00[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13417974	0.94[ASN][1000 genomes]
rs13431080	0.94[ASN][1000 genomes]
rs17012612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2004437	0.85[ASN][1000 genomes]
rs2290427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769546	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4578839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4641915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55852365	0.85[ASN][1000 genomes]
rs57095191	1.00[ASN][1000 genomes]
rs57119251	1.00[ASN][1000 genomes]
rs57408328	0.94[ASN][1000 genomes]
rs60523332	1.00[ASN][1000 genomes]
rs60912788	0.94[ASN][1000 genomes]
rs61609498	0.94[ASN][1000 genomes]
rs61754245	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6543693	0.94[ASN][1000 genomes]
rs6543694	0.94[ASN][1000 genomes]
rs6543695	0.94[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6718325	0.94[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6728561	1.00[ASN][1000 genomes]
rs6730109	0.94[ASN][1000 genomes]
rs6730341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6734291	1.00[ASN][1000 genomes]
rs6746796	0.94[ASN][1000 genomes]
rs6752708	1.00[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6757381	1.00[ASN][1000 genomes]
rs6760864	0.89[ASN][1000 genomes]
rs72855723	0.94[ASN][1000 genomes]
rs72855746	1.00[ASN][1000 genomes]
rs72855774	1.00[ASN][1000 genomes]
rs72855787	1.00[ASN][1000 genomes]
rs72858037	1.00[ASN][1000 genomes]
rs72858071	0.89[ASN][1000 genomes]
rs72858072	0.89[ASN][1000 genomes]
rs73927364	0.85[ASN][1000 genomes]
rs7568506	0.85[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7606937	1.00[ASN][1000 genomes]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
5	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
6	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
10	chr2:33415600-33434200	Weak transcription	K562	blood
11	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:33417400-33431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33418200-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:33419000-33434200	Weak transcription	NH-A	brain
16	chr2:33420000-33432000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33420800-33430400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
19	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33426600-33435000	Weak transcription	Gastric	stomach
21	chr2:33426800-33428200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:33427000-33428000	Enhancers	Ovary	ovary
23	chr2:33427000-33428200	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr2:33427000-33428400	Enhancers	Fetal Heart	heart
25	chr2:33427200-33428000	Weak transcription	Osteobl	bone
26	chr2:33427400-33428000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:33427400-33428000	Enhancers	Liver	Liver
28	chr2:33427400-33432200	Weak transcription	Fetal Lung	lung
29	chr2:33427600-33428000	Genic enhancers	NHLF	lung
30	chr2:33427600-33428400	Enhancers	Left Ventricle	heart
31	chr2:33427600-33430600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:33427600-33431800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:33427800-33428400	Enhancers	Aorta	Aorta
34	chr2:33427800-33428600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:33427800-33428600	Enhancers	Right Atrium	heart
36	chr2:33427800-33428600	Enhancers	Right Ventricle	heart

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