Variant report

Variant	rs1520863
Chromosome Location	chr2:190214760-190214761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10497700	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10755004	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931414	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931415	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931416	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931418	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931419	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1112578	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1157910	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11677066	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11688021	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11691691	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11695159	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12612412	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12616234	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12623723	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12987962	0.82[EUR][1000 genomes]
rs12990035	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12990235	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12997620	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13004187	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004722	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13010531	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13011374	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13011485	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13015203	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13021508	0.84[EUR][1000 genomes]
rs13022633	0.85[EUR][1000 genomes]
rs13032853	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13033841	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1356977	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1402368	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1520855	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1520857	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1520859	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1520864	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1568334	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1581351	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1851105	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1949604	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949605	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304703	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2351636	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4287797	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4353589	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666774	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667274	0.84[EUR][1000 genomes]
rs4667276	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667277	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667281	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6434339	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6728055	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6745108	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564611	0.85[EUR][1000 genomes]
rs7576165	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7588453	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7593821	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7596592	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7607133	0.84[EUR][1000 genomes]
rs963738	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9679659	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190211800-190215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190212000-190215200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:190212000-190215200	Weak transcription	Fetal Stomach	stomach
4	chr2:190212000-190215200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:190212200-190215200	Weak transcription	Ovary	ovary
6	chr2:190212800-190215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:190212800-190215200	Weak transcription	Fetal Lung	lung
8	chr2:190212800-190215200	Weak transcription	HUVEC	blood vessel
9	chr2:190213000-190215000	Weak transcription	NH-A	brain
10	chr2:190213000-190215200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:190213000-190215200	Weak transcription	HSMM	muscle
12	chr2:190213000-190215200	Weak transcription	Osteobl	bone
13	chr2:190213600-190214800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:190213600-190215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:190213600-190215600	Weak transcription	HSMMtube	muscle
16	chr2:190213800-190215000	Weak transcription	HMEC	breast
17	chr2:190214000-190215000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:190214600-190216000	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:190214600-190216200	Enhancers	NHDF-Ad	bronchial
20	chr2:190214600-190216400	Enhancers	Muscle Satellite Cultured Cells	--

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