Variant report

Variant	rs723043
Chromosome Location	chr2:33541787-33541788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10169788	0.88[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10175557	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124313	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673950	0.92[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11684829	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12624081	0.81[EUR][1000 genomes]
rs13391131	0.92[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13392154	0.85[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs13394170	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13394195	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399607	0.82[EUR][1000 genomes]
rs13403065	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13414720	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13432307	0.81[EUR][1000 genomes]
rs17582516	0.92[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2167972	0.80[CEU][hapmap]
rs2603361	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769540	0.89[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769544	0.90[EUR][1000 genomes]
rs3769545	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs41464348	0.88[MEX][hapmap]
rs4233909	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670387	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670408	0.92[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62148881	0.81[ASN][1000 genomes]
rs62148882	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62148927	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62148931	0.90[ASN][1000 genomes]
rs6543704	0.92[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543705	0.89[CEU][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6711027	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739030	0.92[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739506	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739725	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs711234	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs711235	0.83[CHB][hapmap]
rs749454	0.83[ASN][1000 genomes]
rs7565095	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7575377	0.88[MEX][hapmap]
rs7581438	0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586227	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7590205	0.89[CEU][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7605474	0.88[EUR][1000 genomes]
rs817529	0.81[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs817532	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs817534	0.85[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes]
rs817535	0.87[MEX][hapmap]
rs817536	0.83[CHB][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs817537	0.83[CHB][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs817539	0.81[AMR][1000 genomes]
rs877672	0.84[MEX][hapmap]
rs9308934	0.92[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs935996	0.83[MEX][hapmap]
rs971793	0.85[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[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	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
2	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
3	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
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
3	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
4	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33523600-33546200	Weak transcription	K562	blood
8	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
10	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
12	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
13	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
14	chr2:33530000-33543000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33533400-33542800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:33535600-33544600	Weak transcription	NHLF	lung
17	chr2:33537400-33545800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:33538400-33541800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33538400-33543200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr2:33538400-33545600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33538400-33545800	Strong transcription	Osteobl	bone
22	chr2:33538600-33541800	Weak transcription	NHDF-Ad	bronchial
23	chr2:33538800-33542600	Weak transcription	Ovary	ovary
24	chr2:33539000-33542600	Weak transcription	Lung	lung
25	chr2:33539000-33544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:33539400-33542000	Weak transcription	Esophagus	oesophagus
27	chr2:33539400-33542600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:33539600-33545600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:33539800-33543600	Strong transcription	NH-A	brain
30	chr2:33540400-33542000	Strong transcription	Liver	Liver
31	chr2:33540400-33543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
33	chr2:33541000-33542600	Weak transcription	Left Ventricle	heart
34	chr2:33541000-33542600	Weak transcription	Right Atrium	heart
35	chr2:33541000-33543000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:33541000-33544000	Weak transcription	Fetal Stomach	stomach
37	chr2:33541000-33546400	Weak transcription	Aorta	Aorta
38	chr2:33541000-33547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:33541200-33542400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:33541200-33542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:33541200-33547200	Weak transcription	Gastric	stomach
42	chr2:33541400-33541800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:33541600-33541800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:33541600-33543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:33541600-33543600	Enhancers	Fetal Heart	heart

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