Variant report

Variant	rs17012615
Chromosome Location	chr2:33387849-33387850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33352861..33355600-chr2:33385791..33387865,2	MCF-7	breast:
2	chr2:33382825..33385246-chr2:33385612..33388538,2	K562	blood:
3	chr2:33387130..33389156-chr2:33413071..33415726,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10167324	0.94[ASN][1000 genomes]
rs10167399	0.94[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10173416	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10195782	0.94[ASN][1000 genomes]
rs10201015	0.94[ASN][1000 genomes]
rs10201397	0.94[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10205515	0.94[ASN][1000 genomes]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11675702	0.84[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11689160	1.00[YRI][hapmap]
rs11691887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11886337	0.94[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13408945	0.94[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13417974	1.00[ASN][1000 genomes]
rs13431080	1.00[ASN][1000 genomes]
rs17012612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012619	1.00[YRI][hapmap]
rs17012621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs17012630	1.00[YRI][hapmap]
rs17012639	1.00[YRI][hapmap]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2004437	0.89[EUR][1000 genomes]
rs2198568	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57095191	0.94[ASN][1000 genomes]
rs57119251	0.94[ASN][1000 genomes]
rs57408328	1.00[ASN][1000 genomes]
rs60523332	0.94[ASN][1000 genomes]
rs60912788	1.00[ASN][1000 genomes]
rs61609498	1.00[ASN][1000 genomes]
rs61754245	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6543693	1.00[ASN][1000 genomes]
rs6543694	1.00[ASN][1000 genomes]
rs6543695	1.00[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6718325	1.00[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6728561	0.94[ASN][1000 genomes]
rs6730109	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6730341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734291	0.94[ASN][1000 genomes]
rs6746796	1.00[ASN][1000 genomes]
rs6752708	0.94[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6757381	0.94[ASN][1000 genomes]
rs6760864	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72855723	1.00[ASN][1000 genomes]
rs72855746	0.94[ASN][1000 genomes]
rs72855774	0.94[ASN][1000 genomes]
rs72855787	0.94[ASN][1000 genomes]
rs72858037	0.94[ASN][1000 genomes]
rs72858071	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72858072	0.84[ASN][1000 genomes]
rs7568506	0.90[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7606937	0.94[ASN][1000 genomes]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs964701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
2	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
3	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:33384400-33391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:33384400-33391800	Weak transcription	Ovary	ovary
7	chr2:33384400-33392000	Weak transcription	Left Ventricle	heart
8	chr2:33384600-33390800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:33384800-33390200	Weak transcription	HUVEC	blood vessel
10	chr2:33384800-33392400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:33385000-33389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:33385600-33388200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33385800-33389800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:33385800-33389800	Weak transcription	NHDF-Ad	bronchial
15	chr2:33386000-33389600	Weak transcription	Fetal Heart	heart
16	chr2:33386200-33389800	Weak transcription	NH-A	brain
17	chr2:33386200-33390000	Weak transcription	NHLF	lung
18	chr2:33386200-33392600	Weak transcription	Aorta	Aorta
19	chr2:33386600-33388400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:33387800-33388200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr2:33387800-33388400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:33387800-33388600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33387800-33388800	Strong transcription	Osteobl	bone
24	chr2:33387800-33390000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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