Variant report

Variant	rs2336419
Chromosome Location	chr2:206169167-206169168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10199654	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10205892	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10490295	0.91[EUR][1000 genomes]
rs10932102	0.95[EUR][1000 genomes]
rs1113314	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11690439	0.94[EUR][1000 genomes]
rs11692923	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12464755	0.91[EUR][1000 genomes]
rs12468755	0.90[EUR][1000 genomes]
rs12468794	0.90[EUR][1000 genomes]
rs12474300	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12615597	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12622101	0.95[EUR][1000 genomes]
rs13004164	0.90[EUR][1000 genomes]
rs13004568	0.95[EUR][1000 genomes]
rs13011880	0.87[EUR][1000 genomes]
rs13011981	0.90[EUR][1000 genomes]
rs13015412	0.84[EUR][1000 genomes]
rs13017922	0.84[EUR][1000 genomes]
rs13022810	0.91[EUR][1000 genomes]
rs1540365	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540366	0.95[EUR][1000 genomes]
rs1540367	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540368	0.95[EUR][1000 genomes]
rs1861508	0.94[EUR][1000 genomes]
rs1861509	0.94[EUR][1000 genomes]
rs1921805	0.95[EUR][1000 genomes]
rs2080419	0.87[EUR][1000 genomes]
rs2193077	0.84[EUR][1000 genomes]
rs2336416	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2336417	0.86[AFR][1000 genomes]
rs2336418	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34226321	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35550118	0.84[EUR][1000 genomes]
rs3845806	0.90[EUR][1000 genomes]
rs3856509	0.90[EUR][1000 genomes]
rs3928642	0.90[EUR][1000 genomes]
rs4673318	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4673323	0.85[EUR][1000 genomes]
rs4675508	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4675510	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4675511	0.95[EUR][1000 genomes]
rs4675513	0.90[EUR][1000 genomes]
rs4675515	0.89[EUR][1000 genomes]
rs55850246	0.94[EUR][1000 genomes]
rs66583439	0.84[EUR][1000 genomes]
rs6758445	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7594732	0.95[EUR][1000 genomes]
rs907462	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206157000-206170400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:206157000-206170800	Weak transcription	Aorta	Aorta
4	chr2:206157400-206169400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:206157400-206170800	Weak transcription	Pancreas	Pancrea
6	chr2:206160000-206169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:206160200-206169800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:206161200-206177000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:206163800-206177200	Weak transcription	Fetal Lung	lung
10	chr2:206164400-206169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:206165200-206171000	Weak transcription	Left Ventricle	heart
12	chr2:206165600-206177200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:206166000-206169200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:206166200-206170000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:206166600-206171600	Weak transcription	Liver	Liver
16	chr2:206167400-206169600	Strong transcription	Adipose Nuclei	Adipose
17	chr2:206167600-206172400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:206167800-206170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:206168400-206170400	Weak transcription	Fetal Stomach	stomach
20	chr2:206168600-206169800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:206168600-206172400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:206168600-206173400	Weak transcription	Ovary	ovary
23	chr2:206168600-206190600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:206168800-206171400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:206168800-206176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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