Variant report

Variant	rs10165127
Chromosome Location	chr2:189993543-189993544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10165257	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1016622	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931401	0.89[EUR][1000 genomes]
rs11901914	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12474942	0.84[AFR][1000 genomes]
rs12618316	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005714	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005834	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006065	0.89[EUR][1000 genomes]
rs13013089	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13019651	0.94[ASN][1000 genomes]
rs13020999	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13024858	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13030984	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464135	0.89[EUR][1000 genomes]
rs1515864	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515869	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533618	0.85[EUR][1000 genomes]
rs1949327	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138373	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36019389	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4417749	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667266	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667268	0.92[EUR][1000 genomes]
rs4667270	0.84[AFR][1000 genomes]
rs4667271	0.85[EUR][1000 genomes]
rs62182417	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434324	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434325	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741804	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749559	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752781	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7560973	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593860	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599222	0.85[EUR][1000 genomes]
rs7606337	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288163	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
2	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189981200-189998000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
6	chr2:189982400-190005800	Weak transcription	Fetal Kidney	kidney
7	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:189985400-190000200	Weak transcription	Fetal Lung	lung
9	chr2:189986000-190008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:189991800-189994600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:189991800-189997000	Enhancers	HSMMtube	muscle
12	chr2:189992600-189994200	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:189992600-189996000	Enhancers	NHLF	lung
14	chr2:189992800-189993600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189992800-189993600	Enhancers	Adipose Nuclei	Adipose
16	chr2:189992800-189993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:189992800-189994400	Enhancers	NH-A	brain
18	chr2:189992800-189994800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:189992800-189995000	Enhancers	A549	lung
20	chr2:189993000-189993600	Enhancers	Osteobl	bone
21	chr2:189993000-189998200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:189993200-189993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:189993200-189994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:189993200-189995800	Enhancers	HSMM	muscle
25	chr2:189993200-189999800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:189993400-189993600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
27	chr2:189993400-189993800	Enhancers	Ovary	ovary
28	chr2:189993400-189994000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:189993400-189994800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:189993400-189994800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:189993400-189994800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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