Variant report

Variant	rs1996311
Chromosome Location	chr2:189762498-189762499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10737934	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10737935	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010373	0.81[ASN][1000 genomes]
rs13013611	0.86[AMR][1000 genomes]
rs1400230	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1516444	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1516445	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1878205	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1914032	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1996312	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2037188	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2037189	0.99[ASN][1000 genomes]
rs2056157	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2067991	0.88[AMR][1000 genomes]
rs2090357	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2459409	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2708203	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4666766	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4666767	0.81[ASN][1000 genomes]
rs4667253	0.96[ASN][1000 genomes]
rs6434301	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6712676	0.88[AMR][1000 genomes]
rs6734088	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7570793	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575426	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189761400-189763200	Enhancers	Adipose Nuclei	Adipose
2	chr2:189761600-189763000	Enhancers	Aorta	Aorta
3	chr2:189761800-189762600	Enhancers	Colon Smooth Muscle	Colon
4	chr2:189761800-189763000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:189761800-189763000	Enhancers	Ovary	ovary
6	chr2:189761800-189763000	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:189761800-189763400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:189761800-189763400	Enhancers	Fetal Lung	lung
9	chr2:189761800-189763600	Enhancers	HSMM	muscle
10	chr2:189761800-189763800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:189762000-189762800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:189762000-189765400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:189762200-189763000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:189762200-189763000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:189762200-189763000	Enhancers	Fetal Stomach	stomach
16	chr2:189762200-189763200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189762200-189764200	Enhancers	NHDF-Ad	bronchial
18	chr2:189762200-189764600	Enhancers	NHLF	lung
19	chr2:189762200-189766600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189762400-189763000	Enhancers	Osteobl	bone
21	chr2:189762400-189763400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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