Variant report

Variant	rs12735952
Chromosome Location	chr1:170380175-170380176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11583564	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11588124	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589240	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589376	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11590710	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11799550	0.91[ASN][1000 genomes]
rs11811252	0.91[ASN][1000 genomes]
rs12729774	1.00[CHB][hapmap]
rs12737862	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12747498	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12755330	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs16863397	1.00[YRI][hapmap]
rs34593046	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34621734	0.81[AMR][1000 genomes]
rs35299255	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35564609	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4397704	0.91[ASN][1000 genomes]
rs4488075	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61824337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61824356	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6427248	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427249	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427250	0.91[ASN][1000 genomes]
rs6427251	0.91[ASN][1000 genomes]
rs6668898	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6676293	1.00[CHB][hapmap]
rs72707652	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72707653	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7515690	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1014576	chr1:170366471-170383224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv514018	chr1:170367664-170386144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv517083	chr1:170371403-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv3692946	chr1:170372503-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12735952	GORAB	cis	Artery Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:170379000-170380800	Enhancers	Osteobl	bone
3	chr1:170379200-170380600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:170379200-170380600	Enhancers	HSMM	muscle
5	chr1:170379200-170381400	Enhancers	NHLF	lung
6	chr1:170379400-170380400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:170379400-170380400	Enhancers	NH-A	brain
8	chr1:170379400-170380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:170379600-170380600	Enhancers	Fetal Stomach	stomach
10	chr1:170379800-170380200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:170379800-170380400	Enhancers	Fetal Heart	heart
12	chr1:170379800-170380600	Flanking Active TSS	NHDF-Ad	bronchial
13	chr1:170379800-170381200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:170380000-170380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:170380000-170380200	Enhancers	Ovary	ovary
16	chr1:170380000-170380800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:170380000-170381200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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