Variant report

Variant	rs10931399
Chromosome Location	chr2:190018642-190018643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211173	1.00[AMR][1000 genomes]
rs12693529	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13014478	0.83[YRI][hapmap];0.90[AFR][1000 genomes]
rs1399990	0.95[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037170	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037171	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34556340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34606082	1.00[AMR][1000 genomes]
rs3914569	1.00[AMR][1000 genomes]
rs57449412	1.00[AMR][1000 genomes]
rs57484527	1.00[AMR][1000 genomes]
rs58082189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58624621	1.00[AMR][1000 genomes]
rs59784139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325916	1.00[AMR][1000 genomes]
rs61621835	1.00[AMR][1000 genomes]
rs6434329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434332	0.95[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];0.80[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594988	1.00[AMR][1000 genomes]
rs7606163	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs939156	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190011200-190020800	Enhancers	NHDF-Ad	bronchial
2	chr2:190014600-190019200	Enhancers	NHLF	lung
3	chr2:190015200-190026600	Weak transcription	Liver	Liver
4	chr2:190016000-190028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:190016200-190019200	Enhancers	Fetal Lung	lung
6	chr2:190016200-190027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:190016800-190018800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:190016800-190018800	Enhancers	Colon Smooth Muscle	Colon
9	chr2:190016800-190018800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:190017000-190018800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:190017000-190018800	Enhancers	Ovary	ovary
12	chr2:190017000-190019400	Enhancers	Fetal Stomach	stomach
13	chr2:190017200-190018800	Enhancers	Aorta	Aorta
14	chr2:190017400-190019000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:190017400-190023200	Weak transcription	HSMMtube	muscle
16	chr2:190017600-190018800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:190017600-190019200	Enhancers	Osteobl	bone
18	chr2:190017600-190020800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:190017600-190028800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:190017800-190019000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:190017800-190019000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:190017800-190020000	Weak transcription	HSMM	muscle
23	chr2:190018000-190018800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:190018200-190019000	Enhancers	A549	lung
25	chr2:190018400-190019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:190018400-190019800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:190018400-190021000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:190018600-190019000	Enhancers	Fetal Heart	heart
29	chr2:190018600-190021600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:190018600-190021600	Weak transcription	NH-A	brain
31	chr2:190018600-190024000	Weak transcription	Adipose Nuclei	Adipose

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