Variant report

Variant	rs6132573
Chromosome Location	chr20:23159054-23159055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
2	chr20:23009895..23012864-chr20:23158495..23160827,2	K562	blood:
3	chr20:23145826..23148563-chr20:23157728..23159717,2	MCF-7	breast:
4	chr20:23133916..23136553-chr20:23158776..23161352,2	K562	blood:
5	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:

Variant related genes	Relation type
ENSG00000230492	Chromatin interaction
ENSG00000234646	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005856	0.94[ASN][1000 genomes]
rs11896	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338943	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1538445	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4813483	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6076035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6076040	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083031	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6083042	0.81[AMR][1000 genomes]
rs6083044	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083047	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083050	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6106615	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106616	0.99[ASN][1000 genomes]
rs6106617	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6106619	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6113992	0.93[ASN][1000 genomes]
rs6114001	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6114004	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6132576	0.93[ASN][1000 genomes]
rs6132580	0.84[EUR][1000 genomes]
rs62206883	0.99[ASN][1000 genomes]
rs750653	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2756735	chr20:23146607-23179604	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6132573	RP4-737E23.2	cis	lung	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23158400-23159600	Enhancers	Adipose Nuclei	Adipose
2	chr20:23158600-23159200	Enhancers	Left Ventricle	heart
3	chr20:23158600-23159200	Enhancers	Pancreas	Pancrea
4	chr20:23158600-23159400	Enhancers	Lung	lung
5	chr20:23158600-23159600	Enhancers	Right Atrium	heart
6	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:23158600-23160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:23158600-23161400	Enhancers	Spleen	Spleen
10	chr20:23158600-23161800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:23158600-23161800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr20:23158600-23161800	Enhancers	K562	blood
13	chr20:23158800-23160000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:23158800-23161800	Enhancers	HUVEC	blood vessel
15	chr20:23159000-23159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23159000-23159200	Enhancers	Brain Substantia Nigra	brain
17	chr20:23159000-23159200	Enhancers	Ovary	ovary
18	chr20:23159000-23159400	Enhancers	Fetal Muscle Leg	muscle
19	chr20:23159000-23159800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr20:23159000-23159800	Enhancers	Fetal Muscle Trunk	muscle
21	chr20:23159000-23159800	Enhancers	Right Ventricle	heart
22	chr20:23159000-23160000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr20:23159000-23162000	Enhancers	Placenta	Placenta

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