Variant report

Variant	rs16831116
Chromosome Location	chr2:189992900-189992901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16831202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831276	1.00[AMR][1000 genomes]
rs16831285	1.00[AMR][1000 genomes]
rs16831348	1.00[AMR][1000 genomes]
rs6712164	1.00[AMR][1000 genomes]
rs7557599	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7573786	1.00[AMR][1000 genomes]
rs7576519	0.90[YRI][hapmap]
rs7588990	1.00[AMR][1000 genomes]
rs7589307	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592325	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	chr2:189991400-189993000	Genic enhancers	Osteobl	bone
13	chr2:189991400-189993200	Enhancers	Colon Smooth Muscle	Colon
14	chr2:189991400-189993200	Genic enhancers	HSMM	muscle
15	chr2:189991600-189993200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:189991800-189994600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:189991800-189997000	Enhancers	HSMMtube	muscle
18	chr2:189992000-189993000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:189992200-189993400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:189992400-189993000	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr2:189992600-189993000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr2:189992600-189993200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:189992600-189993400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:189992600-189994200	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:189992600-189996000	Enhancers	NHLF	lung
26	chr2:189992800-189993000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:189992800-189993600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189992800-189993600	Enhancers	Adipose Nuclei	Adipose
29	chr2:189992800-189993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:189992800-189994400	Enhancers	NH-A	brain
31	chr2:189992800-189994800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:189992800-189995000	Enhancers	A549	lung

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