Variant report

Variant	rs2232714
Chromosome Location	chr3:86989134-86989135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17023658	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17023665	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17023686	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17023716	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1898271	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62257279	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62257280	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62257281	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62257283	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62257314	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62257339	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62257341	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62257346	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62257347	0.84[ASN][1000 genomes]
rs62257349	0.80[AMR][1000 genomes];0.84[ASN][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	nsv519148	chr3:86831077-86995124	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr3:86980600-86995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:86986000-86998200	Weak transcription	A549	lung
3	chr3:86986800-87014400	Weak transcription	Aorta	Aorta
4	chr3:86987200-86990800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:86987200-86997800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:86987400-87007400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:86987800-86989200	Genic enhancers	NH-A	brain
8	chr3:86987800-86996600	Strong transcription	Placenta	Placenta
9	chr3:86987800-86999600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:86988000-86989200	Genic enhancers	NHDF-Ad	bronchial
11	chr3:86988000-86989400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:86988000-86992800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:86988000-86993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:86988200-86989200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:86988200-86989400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:86988200-86993200	Weak transcription	Fetal Lung	lung
17	chr3:86988200-87007600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:86988200-87013400	Weak transcription	Ovary	ovary
19	chr3:86988400-86989200	Strong transcription	Adipose Nuclei	Adipose
20	chr3:86988400-86989400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr3:86988400-86991200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:86988600-86989200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:86988600-86989200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:86988600-86990800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:86988600-86993400	Weak transcription	HSMMtube	muscle
26	chr3:86988600-87000000	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:86988800-86989200	Genic enhancers	Osteobl	bone
28	chr3:86988800-86993000	Weak transcription	NHLF	lung
29	chr3:86989000-86989600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:86989000-86993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:86989000-86993400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:86989000-86997800	Strong transcription	HSMM	muscle

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