Variant report

Variant	rs2290427
Chromosome Location	chr2:33505139-33505140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10167324	0.85[ASN][1000 genomes]
rs10167399	0.85[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10173416	0.95[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10195782	0.85[ASN][1000 genomes]
rs10201015	0.85[ASN][1000 genomes]
rs10201397	0.85[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10205515	0.85[ASN][1000 genomes]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11675702	0.95[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11886337	0.85[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408945	0.85[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17012615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17012621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2004437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769546	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4578839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4641915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs55852365	1.00[ASN][1000 genomes]
rs57095191	0.85[ASN][1000 genomes]
rs57119251	0.85[ASN][1000 genomes]
rs60523332	0.85[ASN][1000 genomes]
rs61754245	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6728561	0.85[ASN][1000 genomes]
rs6730341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6734291	0.85[ASN][1000 genomes]
rs6752708	0.85[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6757381	0.85[ASN][1000 genomes]
rs6760864	0.95[ASN][1000 genomes]
rs72855746	0.85[ASN][1000 genomes]
rs72855774	0.85[ASN][1000 genomes]
rs72855787	0.85[ASN][1000 genomes]
rs72858037	0.85[ASN][1000 genomes]
rs72858071	0.95[ASN][1000 genomes]
rs72858072	0.95[ASN][1000 genomes]
rs73927364	1.00[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7606937	0.85[ASN][1000 genomes]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs964701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv518285	chr2:33502505-33509219	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
10	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
12	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
14	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:33501200-33505400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:33501200-33505600	Weak transcription	NHLF	lung
18	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
20	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:33501400-33516600	Weak transcription	K562	blood
22	chr2:33501600-33505400	Strong transcription	NH-A	brain
23	chr2:33501600-33509000	Weak transcription	HUVEC	blood vessel
24	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:33502400-33505800	Weak transcription	Fetal Stomach	stomach
26	chr2:33502400-33512400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:33502400-33512600	Weak transcription	Lung	lung
28	chr2:33502400-33514000	Strong transcription	Osteobl	bone
29	chr2:33502400-33516000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:33502400-33516600	Weak transcription	Pancreas	Pancrea
31	chr2:33502400-33516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:33502400-33516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:33502400-33516800	Weak transcription	Esophagus	oesophagus
34	chr2:33502600-33505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:33502600-33505800	Weak transcription	Aorta	Aorta
36	chr2:33502600-33515200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:33502600-33515400	Weak transcription	NHDF-Ad	bronchial
38	chr2:33502600-33515800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
40	chr2:33503200-33505400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:33503200-33515000	Weak transcription	Ovary	ovary
42	chr2:33503400-33515600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:33503600-33515400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:33503600-33518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:33504000-33506800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:33504000-33515800	Weak transcription	Fetal Brain Female	brain
47	chr2:33504200-33516000	Weak transcription	Fetal Brain Male	brain
48	chr2:33504400-33505400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:33504400-33508000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:33504400-33511800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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