Variant report

Variant	rs592928
Chromosome Location	chr11:93578713-93578714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93578025..93580414-chr11:93582241..93584274,2	MCF-7	breast:
2	chr11:93573034..93574982-chr11:93577351..93579651,2	K562	blood:

Variant related genes	Relation type
ENSG00000214376	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10831106	0.86[ASN][1000 genomes]
rs10831107	0.81[EUR][1000 genomes]
rs11020540	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11020545	0.81[EUR][1000 genomes]
rs11605080	0.86[ASN][1000 genomes]
rs12789389	0.84[TSI][hapmap]
rs1848077	0.86[ASN][1000 genomes]
rs4753510	0.86[ASN][1000 genomes]
rs685564	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7122140	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7124077	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs592928	GPR83	cis	cerebellum	SCAN
rs592928	C11orf75	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93570400-93579200	Enhancers	Stomach Mucosa	stomach
2	chr11:93572600-93582800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:93574400-93582800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:93574800-93579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:93575800-93582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:93575800-93582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:93576600-93581800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:93576600-93583000	Weak transcription	Esophagus	oesophagus
9	chr11:93577400-93578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:93577400-93579600	Enhancers	NHEK	skin
11	chr11:93577600-93579000	Enhancers	Placenta	Placenta
12	chr11:93577800-93579000	Enhancers	HMEC	breast
13	chr11:93577800-93579200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:93577800-93580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:93578000-93580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:93578200-93579000	Enhancers	NHDF-Ad	bronchial
17	chr11:93578200-93579200	Enhancers	HSMMtube	muscle
18	chr11:93578200-93579600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:93578200-93579800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:93578200-93579800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:93578200-93579800	Enhancers	HSMM	muscle
22	chr11:93578200-93580000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:93578400-93579200	Enhancers	Osteobl	bone
24	chr11:93578400-93579800	Enhancers	NH-A	brain
25	chr11:93578400-93583800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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