Variant report

Variant	rs12403951
Chromosome Location	chr1:97708274-97708275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10783056	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10875056	0.90[EUR][1000 genomes]
rs10875057	0.99[ASN][1000 genomes]
rs10875058	0.98[ASN][1000 genomes]
rs11165815	0.95[ASN][1000 genomes]
rs12402250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1413239	0.81[EUR][1000 genomes]
rs1520658	0.90[ASN][1000 genomes]
rs1520663	0.95[ASN][1000 genomes]
rs1520664	0.95[ASN][1000 genomes]
rs1760212	0.95[ASN][1000 genomes]
rs1931072	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2027054	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2039447	0.81[EUR][1000 genomes]
rs2039448	0.81[EUR][1000 genomes]
rs36074903	0.81[ASN][1000 genomes]
rs3897933	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4511173	0.81[EUR][1000 genomes]
rs493517	0.93[ASN][1000 genomes]
rs495257	0.93[ASN][1000 genomes]
rs563033	0.95[ASN][1000 genomes]
rs563832	0.95[ASN][1000 genomes]
rs576189	0.94[ASN][1000 genomes]
rs61637399	0.81[EUR][1000 genomes]
rs652246	0.80[ASN][1000 genomes]
rs666924	0.94[ASN][1000 genomes]
rs827497	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs864335	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs865242	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866129	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv470728	chr1:97703325-97761972	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3370297	chr1:97706814-97708912	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97694800-97712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:97697000-97711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:97697200-97710800	Weak transcription	Osteobl	bone
4	chr1:97697400-97711400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:97699200-97710800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:97699400-97709400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:97699400-97710800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:97699400-97711000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:97699400-97723600	Weak transcription	Lung	lung
10	chr1:97699600-97710000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:97699600-97711000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:97699600-97711200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:97699600-97711200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:97699600-97729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:97699800-97710800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:97700000-97710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:97700000-97711400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:97700000-97717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:97700600-97710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:97700600-97711400	Weak transcription	Left Ventricle	heart
21	chr1:97700600-97712200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:97700600-97723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:97700600-97733000	Weak transcription	Dnd41	blood
24	chr1:97700800-97711000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:97700800-97712400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:97701000-97712600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:97706400-97717800	Weak transcription	Liver	Liver

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