Variant report

Variant	rs11250139
Chromosome Location	chr8:11331046-11331047
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
2	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
3	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12547167	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257831	1.00[JPT][hapmap]
rs17742757	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618434	1.00[CHB][hapmap]
rs2736324	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs28377323	0.93[ASN][1000 genomes]
rs34074589	0.92[ASN][1000 genomes]
rs4841531	1.00[CHB][hapmap]
rs66562644	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs899364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11250139	C11orf17	trans	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11325200-11331600	Weak transcription	Right Atrium	heart
2	chr8:11325200-11335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:11325600-11331600	Weak transcription	Esophagus	oesophagus
4	chr8:11326000-11332000	Weak transcription	Fetal Thymus	thymus
5	chr8:11329000-11331800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11329200-11331600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:11330200-11333600	Enhancers	Stomach Mucosa	stomach
8	chr8:11330400-11331200	Enhancers	Gastric	stomach
9	chr8:11330400-11331800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:11330400-11332600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:11330400-11332800	Enhancers	Pancreas	Pancrea
12	chr8:11330600-11331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11330600-11331800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:11330800-11331200	Transcr. at gene 5' and 3'	NHEK	skin
15	chr8:11330800-11331600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:11330800-11331600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11330800-11331800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:11330800-11331800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:11330800-11331800	Enhancers	Osteobl	bone
20	chr8:11330800-11332200	Weak transcription	Lung	lung
21	chr8:11331000-11331200	Enhancers	Fetal Brain Male	brain
22	chr8:11331000-11331600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:11331000-11331600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:11331000-11331600	Enhancers	A549	lung
25	chr8:11331000-11331800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:11331000-11331800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:11331000-11332800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:11331000-11332800	Enhancers	Liver	Liver
29	chr8:11331000-11334000	Enhancers	Placenta	Placenta

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