Variant report

Variant	rs2244234
Chromosome Location	chr8:11336467-11336468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13256690	0.90[ASN][1000 genomes]
rs1478895	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1478900	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1531577	0.91[ASN][1000 genomes]
rs1564267	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250412	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2250788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2251056	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2254546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254660	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254891	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2618476	0.87[CHB][hapmap]
rs2618478	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs2618479	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs2618480	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2618481	0.88[CHB][hapmap]
rs2736335	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2736343	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736344	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2736345	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs35393613	0.91[ASN][1000 genomes]
rs4840565	0.83[ASN][1000 genomes]
rs62489069	0.91[ASN][1000 genomes]
rs7812879	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922483	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs9694294	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998682	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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
rs2244234	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11332600-11336600	Weak transcription	NHDF-Ad	bronchial
2	chr8:11332600-11337400	Weak transcription	Fetal Thymus	thymus
3	chr8:11332800-11337000	Weak transcription	HMEC	breast
4	chr8:11332800-11337000	Weak transcription	Osteobl	bone
5	chr8:11332800-11337200	Weak transcription	Lung	lung
6	chr8:11332800-11337200	Weak transcription	HUVEC	blood vessel
7	chr8:11332800-11337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:11332800-11337800	Weak transcription	NHLF	lung
9	chr8:11332800-11338000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:11332800-11338200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:11333000-11337800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11333000-11337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:11333400-11337000	Weak transcription	NH-A	brain
14	chr8:11333600-11337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:11333600-11337000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:11333600-11337000	Weak transcription	A549	lung
17	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:11333600-11337200	Weak transcription	HSMMtube	muscle
20	chr8:11333800-11337000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:11333800-11337200	Weak transcription	HSMM	muscle
22	chr8:11334200-11337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:11334800-11339400	Weak transcription	Esophagus	oesophagus
24	chr8:11335000-11337400	Weak transcription	Placenta	Placenta
25	chr8:11335000-11338400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:11336000-11339800	Enhancers	NHEK	skin
27	chr8:11336200-11336800	Enhancers	Primary B cells from cord blood	blood
28	chr8:11336200-11337400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11336200-11337400	Enhancers	GM12878-XiMat	blood
30	chr8:11336200-11339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:11336400-11336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:11336400-11336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:11336400-11340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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