Variant report

Variant	rs16831276
Chromosome Location	chr2:190125000-190125001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16831116	0.89[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[AMR][1000 genomes]
rs16831202	1.00[AMR][1000 genomes]
rs16831211	1.00[AMR][1000 genomes]
rs16831285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831360	0.81[AFR][1000 genomes]
rs16831411	1.00[YRI][hapmap]
rs17271043	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs6712164	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718305	0.88[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs6718570	0.88[ASW][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs7573786	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589307	1.00[AMR][1000 genomes]
rs7592325	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190115600-190126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:190119600-190126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:190119800-190125000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:190119800-190125000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:190119800-190125000	Weak transcription	NH-A	brain
6	chr2:190119800-190125200	Weak transcription	Fetal Lung	lung
7	chr2:190119800-190127800	Weak transcription	Aorta	Aorta
8	chr2:190120000-190125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:190120000-190125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:190120000-190125000	Weak transcription	Osteobl	bone
11	chr2:190120000-190125400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:190120000-190126000	Weak transcription	NHLF	lung
13	chr2:190120200-190125000	Weak transcription	A549	lung
14	chr2:190120200-190125000	Weak transcription	NHDF-Ad	bronchial
15	chr2:190120400-190125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:190123200-190132200	Weak transcription	Pancreas	Pancrea
17	chr2:190123600-190129600	Weak transcription	Psoas Muscle	Psoas
18	chr2:190124000-190125200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:190124200-190126000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:190124600-190126600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:190125000-190125200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:190125000-190125200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:190125000-190125400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:190125000-190125400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:190125000-190125400	Enhancers	Fetal Muscle Leg	muscle
26	chr2:190125000-190125600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:190125000-190125600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:190125000-190125800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:190125000-190126000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:190125000-190126200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:190125000-190126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:190125000-190126600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:190125000-190126600	Enhancers	NH-A	brain
34	chr2:190125000-190126600	Enhancers	NHDF-Ad	bronchial
35	chr2:190125000-190126800	Enhancers	Osteobl	bone
36	chr2:190125000-190127200	Enhancers	A549	lung

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