Variant report

Variant	rs7833668
Chromosome Location	chr8:52853886-52853887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52853531..52855928-chr8:52872215..52875087,2	K562	blood:
2	chr8:52853706..52858045-chr8:52860809..52865433,6	K562	blood:

Variant related genes	Relation type
ENSG00000272024	Chromatin interaction
ENSG00000253844	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10087958	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.90[ASN][1000 genomes]
rs10453128	0.82[ASN][1000 genomes]
rs11551686	0.83[AFR][1000 genomes]
rs1589079	0.91[ASN][1000 genomes]
rs16916966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16916968	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs2138297	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2176119	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6473666	0.91[ASN][1000 genomes]
rs73583663	0.82[AFR][1000 genomes]
rs7813414	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816834	0.82[ASN][1000 genomes]
rs7817558	0.82[ASN][1000 genomes]
rs7817892	0.82[ASN][1000 genomes]
rs7819892	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820177	0.91[ASN][1000 genomes]
rs7834181	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838307	0.92[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs877248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7833668	LOC115294	cis	multi-tissue	Pritchard
rs7833668	RGS20	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
4	chr8:52850000-52860400	Weak transcription	Right Ventricle	heart
5	chr8:52850200-52860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:52850200-52868000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:52852000-52870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:52852200-52858400	Weak transcription	Pancreas	Pancrea
9	chr8:52852200-52858800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:52852200-52859200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:52852200-52859400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:52852200-52866000	Weak transcription	Left Ventricle	heart
13	chr8:52852400-52854400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:52852400-52856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:52852600-52861000	Weak transcription	Adipose Nuclei	Adipose
16	chr8:52852600-52862400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:52852600-52867600	Weak transcription	Fetal Kidney	kidney
18	chr8:52852800-52861000	Weak transcription	Fetal Stomach	stomach
19	chr8:52852800-52867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:52853000-52856400	Weak transcription	Psoas Muscle	Psoas
21	chr8:52853600-52859200	Weak transcription	Lung	lung

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