Variant report

Variant	rs7302508
Chromosome Location	chr12:20619090-20619091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10841528	0.86[MEX][hapmap]
rs10841529	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10841550	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10841551	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11045253	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11045256	0.95[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11045257	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11045259	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11045279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11611895	0.82[AMR][1000 genomes]
rs11611929	0.82[AMR][1000 genomes]
rs12184495	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12372360	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12815826	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4130514	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4762759	0.94[GIH][hapmap];0.90[MEX][hapmap]
rs7484431	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7978217	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
3	chr12:20611800-20621200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:20614200-20621800	Weak transcription	Small Intestine	intestine
5	chr12:20614800-20621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:20617600-20619400	Genic enhancers	Hela-S3	cervix
7	chr12:20618200-20620000	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:20618400-20619200	Enhancers	Psoas Muscle	Psoas
9	chr12:20618400-20619600	Enhancers	Adipose Nuclei	Adipose
10	chr12:20618600-20619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:20618600-20619400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:20618600-20619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:20618600-20619800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:20618600-20620400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:20618800-20619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:20618800-20619200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:20618800-20619200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:20618800-20619200	Enhancers	Fetal Intestine Small	intestine
19	chr12:20618800-20619200	Enhancers	Fetal Stomach	stomach
20	chr12:20618800-20619200	Enhancers	Stomach Smooth Muscle	stomach
21	chr12:20618800-20619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:20618800-20619400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:20618800-20619400	Enhancers	Liver	Liver
24	chr12:20618800-20619400	Enhancers	Fetal Heart	heart
25	chr12:20618800-20619400	Enhancers	Fetal Intestine Large	intestine
26	chr12:20618800-20619400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:20618800-20619800	Enhancers	Fetal Lung	lung
28	chr12:20618800-20620400	Enhancers	Osteobl	bone
29	chr12:20619000-20619200	Enhancers	Ovary	ovary
30	chr12:20619000-20619200	Enhancers	A549	lung
31	chr12:20619000-20619800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:20619000-20620000	Enhancers	NHDF-Ad	bronchial
33	chr12:20619000-20621400	Weak transcription	Left Ventricle	heart

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