Variant report

Variant	rs6544333
Chromosome Location	chr2:40594932-40594933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10165478	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10171704	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10177941	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10178405	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10181006	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10181007	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10189274	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10192458	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10490051	0.85[ASN][1000 genomes]
rs11691852	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12471797	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613022	0.83[ASN][1000 genomes]
rs12996962	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13017968	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13022231	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13031340	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13031441	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13032770	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1477002	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1477004	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1477005	0.86[ASN][1000 genomes]
rs1861293	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2192773	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2192776	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2192779	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373857	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2373859	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2888676	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4446101	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4452199	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4452200	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4552227	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4588235	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4645043	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4952409	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6544334	0.92[ASN][1000 genomes]
rs6718322	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745881	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6747285	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7424049	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574340	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7598561	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7599953	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918002	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9309055	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs967351	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981739	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs984707	0.88[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40591000-40598400	Weak transcription	Fetal Stomach	stomach
2	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
3	chr2:40592200-40598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:40592200-40598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:40592200-40598800	Weak transcription	Left Ventricle	heart
6	chr2:40592400-40596400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:40592400-40597200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:40592400-40597400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:40592400-40597400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:40592400-40598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:40592400-40598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40592400-40598400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:40592400-40598400	Weak transcription	Fetal Kidney	kidney
14	chr2:40592400-40598600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:40592400-40598800	Weak transcription	Ovary	ovary
16	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
17	chr2:40592800-40596400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:40592800-40596400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:40592800-40597200	Weak transcription	NHDF-Ad	bronchial
20	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:40593400-40595000	Enhancers	Fetal Brain Male	brain
22	chr2:40593400-40607000	Weak transcription	Dnd41	blood
23	chr2:40594200-40595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:40594200-40595200	Enhancers	Hela-S3	cervix
25	chr2:40594200-40595400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40594200-40595400	Enhancers	NH-A	brain
27	chr2:40594200-40595400	Enhancers	Osteobl	bone
28	chr2:40594200-40596000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain
30	chr2:40594400-40595200	Flanking Active TSS	Fetal Heart	heart
31	chr2:40594400-40595200	Enhancers	HSMM	muscle
32	chr2:40594600-40595000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:40594600-40595000	Enhancers	Right Ventricle	heart
34	chr2:40594600-40595200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:40594600-40595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:40594600-40595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:40594600-40595200	Enhancers	HMEC	breast
38	chr2:40594600-40595200	Enhancers	HSMMtube	muscle
39	chr2:40594800-40595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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