Variant report

Variant	rs11583564
Chromosome Location	chr1:170489727-170489728
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:170489617-170490127	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr1:170489677-170490265	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:170489695-170490195	SK-N-SH	brain:	n/a	chr1:170489885-170489913
4	GATA3	chr1:170489685-170490063	SK-N-SH	brain:	n/a	n/a
5	MEF2A	chr1:170489533-170490154	SK-N-SH	brain:	n/a	chr1:170489894-170489908 chr1:170489796-170489810
6	PBX3	chr1:170489696-170490188	SK-N-SH	brain:	n/a	n/a
7	MEF2A	chr1:170489574-170490217	SK-N-SH	brain:	n/a	chr1:170489894-170489908 chr1:170489796-170489810

No.	Distal block	Cell Line	Cell type
1	chr1:170487389..170489940-chr1:170499540..170501849,3	MCF-7	breast:
2	chr1:170489121..170492119-chr1:170494227..170497230,3	K562	blood:
3	chr1:170483969..170486161-chr1:170489073..170491047,2	K562	blood:

Variant related genes	Relation type
ENSG00000231407	TF binding region
ENSG00000231407	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10919407	0.83[ASN][1000 genomes]
rs10919422	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11588124	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11589240	0.85[AMR][1000 genomes]
rs11589376	0.85[AMR][1000 genomes]
rs11590710	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11806866	0.87[ASN][1000 genomes]
rs12729774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12735952	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12737862	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747498	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751882	0.83[ASN][1000 genomes]
rs12755330	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333141	0.88[JPT][hapmap]
rs1537394	0.88[JPT][hapmap]
rs16863369	0.87[ASN][1000 genomes]
rs1855220	0.87[ASN][1000 genomes]
rs34593046	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34597697	0.83[ASN][1000 genomes]
rs34621734	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35299255	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35329498	0.87[ASN][1000 genomes]
rs35392130	0.80[AMR][1000 genomes]
rs35564609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581791	0.92[ASN][1000 genomes]
rs4488075	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824337	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61824349	0.87[ASN][1000 genomes]
rs61824356	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824357	0.87[ASN][1000 genomes]
rs6427248	0.82[EUR][1000 genomes]
rs6427249	0.82[EUR][1000 genomes]
rs6668898	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676293	1.00[CHB][hapmap]
rs67243697	0.87[ASN][1000 genomes]
rs7515690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7552922	0.82[CHB][hapmap]

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	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11583564	GORAB	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170482600-170490600	Weak transcription	Psoas Muscle	Psoas
2	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
3	chr1:170487400-170491200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:170487600-170492000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:170488000-170489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:170488400-170489800	Weak transcription	NHDF-Ad	bronchial
7	chr1:170488600-170492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:170489000-170490200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:170489400-170491200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:170489600-170490000	Enhancers	HSMMtube	muscle
11	chr1:170489600-170490000	Enhancers	NH-A	brain
12	chr1:170489600-170490200	Enhancers	HUVEC	blood vessel
13	chr1:170489600-170490400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:170489600-170490400	Enhancers	HSMM	muscle
15	chr1:170489600-170490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:170489600-170490600	Enhancers	Osteobl	bone
17	chr1:170489600-170492400	Enhancers	NHLF	lung

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