Variant report

Variant	rs1400285
Chromosome Location	chr12:39277867-39277868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10161183	0.90[ASN][1000 genomes]
rs10444553	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876208	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169518	0.90[ASN][1000 genomes]
rs11169519	0.89[ASN][1000 genomes]
rs11169535	0.86[ASN][1000 genomes]
rs11169616	0.91[ASN][1000 genomes]
rs11169760	0.87[ASN][1000 genomes]
rs11169768	0.88[ASN][1000 genomes]
rs11169807	0.86[EUR][1000 genomes]
rs1400280	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1403521	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1516558	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523118	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1523121	0.87[ASN][1000 genomes]
rs1586373	0.90[ASN][1000 genomes]
rs2138543	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2388172	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246358	0.85[ASN][1000 genomes]
rs35749392	0.89[ASN][1000 genomes]
rs3803020	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3887436	0.90[ASN][1000 genomes]
rs4384412	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4595586	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768388	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56149694	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56344858	0.86[ASN][1000 genomes]
rs6580849	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7314227	0.96[ASN][1000 genomes]
rs7957999	0.81[ASN][1000 genomes]
rs7962363	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7970097	0.93[AMR][1000 genomes];0.91[EUR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:39204000-39284800	Weak transcription	Lung	lung
2	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
3	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:39261800-39279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:39266400-39283200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:39269800-39285800	Weak transcription	Osteobl	bone
7	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:39272600-39278400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:39272600-39284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:39274400-39279800	Weak transcription	A549	lung
11	chr12:39276400-39283400	Weak transcription	Left Ventricle	heart
12	chr12:39276600-39278400	Enhancers	Liver	Liver
13	chr12:39276600-39282800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:39276800-39281800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:39276800-39283800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:39277200-39279600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:39277400-39278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:39277600-39278200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:39277600-39282000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:39277800-39287200	Weak transcription	Aorta	Aorta

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