Variant report

Variant	rs17012674
Chromosome Location	chr2:33437083-33437084
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33428794..33433443-chr2:33434852..33438418,7	K562	blood:
2	chr2:33428794..33431887-chr2:33435425..33437585,4	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167324	1.00[ASN][1000 genomes]
rs10167399	1.00[ASN][1000 genomes]
rs10170803	1.00[CEU][hapmap]
rs10170980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10173416	0.89[ASN][1000 genomes]
rs10189948	1.00[CEU][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10205515	0.85[EUR][1000 genomes];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[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[CHD][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	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13392128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13408945	1.00[ASN][1000 genomes]
rs13417478	1.00[CEU][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[CHD][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[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2290447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769546	1.00[JPT][hapmap]
rs4578839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4641915	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs55852365	0.85[ASN][1000 genomes]
rs57095191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57119251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57408328	0.94[ASN][1000 genomes]
rs60523332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60912788	0.94[ASN][1000 genomes]
rs61609498	0.94[ASN][1000 genomes]
rs61754245	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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6543697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6706122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718325	0.94[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6728561	1.00[ASN][1000 genomes]
rs6730109	0.94[ASN][1000 genomes]
rs6730165	1.00[TSI][hapmap]
rs6730341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6734291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746796	0.94[ASN][1000 genomes]
rs6752708	1.00[ASN][1000 genomes]
rs6757287	1.00[CEU][hapmap];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[AMR][1000 genomes];1.00[EUR][1000 genomes];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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7603774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7606937	1.00[ASN][1000 genomes]
rs9308932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs964701	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:57 , 50 per page) page: 1 2

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	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
5	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
8	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33428600-33439200	Weak transcription	Right Atrium	heart
10	chr2:33431800-33439000	Enhancers	NHDF-Ad	bronchial
11	chr2:33434200-33437400	Enhancers	NH-A	brain
12	chr2:33434200-33438200	Enhancers	K562	blood
13	chr2:33434200-33439400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:33434200-33442200	Enhancers	HUVEC	blood vessel
15	chr2:33434600-33439400	Weak transcription	Lung	lung
16	chr2:33434600-33439400	Weak transcription	Right Ventricle	heart
17	chr2:33434800-33437600	Enhancers	NHEK	skin
18	chr2:33434800-33437800	Enhancers	Stomach Mucosa	stomach
19	chr2:33434800-33437800	Enhancers	HMEC	breast
20	chr2:33434800-33438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33435000-33437800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:33435000-33439000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33435000-33439400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:33435200-33438200	Enhancers	Ovary	ovary
25	chr2:33435800-33437800	Enhancers	Hela-S3	cervix
26	chr2:33435800-33444400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:33436000-33437200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:33436000-33437200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:33436000-33438000	Enhancers	NHLF	lung
30	chr2:33436000-33438800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:33436000-33439400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:33436000-33441000	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:33436200-33440000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:33436400-33437400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:33436400-33439600	Enhancers	Aorta	Aorta
36	chr2:33436400-33439800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:33436400-33442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:33436600-33437200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:33436600-33437400	Weak transcription	Gastric	stomach
40	chr2:33436600-33438000	Enhancers	Fetal Heart	heart
41	chr2:33436600-33440200	Weak transcription	HSMM	muscle
42	chr2:33436600-33441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:33436600-33444200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:33436800-33437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:33436800-33439200	Weak transcription	Left Ventricle	heart
46	chr2:33436800-33440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:33436800-33440400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:33436800-33443800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:33437000-33437200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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