Variant report

Variant	rs2037170
Chromosome Location	chr2:189993292-189993293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10190073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211173	1.00[AMR][1000 genomes]
rs10931399	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693529	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13014478	0.82[YRI][hapmap];0.95[AFR][1000 genomes]
rs1399990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1515863	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1519180	1.00[AMR][1000 genomes]
rs1818585	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037171	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34556340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34606082	1.00[AMR][1000 genomes]
rs3914569	1.00[AMR][1000 genomes]
rs57484527	1.00[AMR][1000 genomes]
rs58082189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58624621	1.00[AMR][1000 genomes]
rs59784139	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325916	1.00[AMR][1000 genomes]
rs61621835	1.00[AMR][1000 genomes]
rs6434329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434333	1.00[AMR][1000 genomes]
rs6434336	1.00[AMR][1000 genomes]
rs6706066	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978807	1.00[AMR][1000 genomes]
rs73978813	1.00[AMR][1000 genomes]
rs73978814	1.00[AMR][1000 genomes]
rs73978816	1.00[AMR][1000 genomes]
rs73978826	1.00[AMR][1000 genomes]
rs73978829	1.00[AMR][1000 genomes]
rs73981483	1.00[AMR][1000 genomes]
rs7578627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594988	1.00[AMR][1000 genomes]
rs7606163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs939156	1.00[AMR][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:32 , 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	chr2:189981000-189993400	Weak transcription	Ovary	ovary
5	chr2:189981200-189998000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
7	chr2:189982400-190005800	Weak transcription	Fetal Kidney	kidney
8	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:189985400-190000200	Weak transcription	Fetal Lung	lung
10	chr2:189986000-190008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189988400-189993400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189991800-189994600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:189991800-189997000	Enhancers	HSMMtube	muscle
14	chr2:189992200-189993400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:189992600-189993400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:189992600-189994200	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:189992600-189996000	Enhancers	NHLF	lung
18	chr2:189992800-189993600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:189992800-189993600	Enhancers	Adipose Nuclei	Adipose
20	chr2:189992800-189993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:189992800-189994400	Enhancers	NH-A	brain
22	chr2:189992800-189994800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:189992800-189995000	Enhancers	A549	lung
24	chr2:189993000-189993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:189993000-189993400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:189993000-189993400	Genic enhancers	NHDF-Ad	bronchial
27	chr2:189993000-189993600	Enhancers	Osteobl	bone
28	chr2:189993000-189998200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:189993200-189993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:189993200-189994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:189993200-189995800	Enhancers	HSMM	muscle
32	chr2:189993200-189999800	Weak transcription	Colon Smooth Muscle	Colon

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