Variant report

Variant	rs2250412
Chromosome Location	chr8:11354570-11354571
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	chr8:11350709..11353692-chr8:11353928..11355539,2	K562	blood:

Variant related genes	Relation type
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13256690	0.82[ASN][1000 genomes]
rs13277113	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1478887	0.83[ASN][1000 genomes]
rs1478895	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1478900	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1478901	0.84[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1531577	0.83[ASN][1000 genomes]
rs1564267	0.85[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2244234	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2250788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2251056	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254546	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254660	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2254891	0.87[ASN][1000 genomes]
rs2618476	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2618478	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2618479	0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2618480	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618481	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2736335	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2736343	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2736344	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736345	0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4840565	0.87[ASN][1000 genomes]
rs4840568	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs57686925	0.91[AFR][1000 genomes]
rs7812879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs922483	0.88[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs9693589	0.82[ASN][1000 genomes]
rs9694294	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998682	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998683	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250412	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11351000-11354800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:11352200-11354800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:11352200-11360400	Weak transcription	Spleen	Spleen
6	chr8:11352400-11354800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:11352600-11354800	Enhancers	Osteobl	bone
8	chr8:11352600-11356200	Flanking Active TSS	Dnd41	blood
9	chr8:11352800-11354600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
10	chr8:11352800-11357600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:11353200-11361000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:11353400-11354800	Enhancers	NH-A	brain
13	chr8:11353400-11357200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
14	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
15	chr8:11353800-11355000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11353800-11355600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:11353800-11355600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:11353800-11355600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:11353800-11357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:11354000-11354600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:11354000-11354800	Enhancers	HSMMtube	muscle
22	chr8:11354000-11355200	Enhancers	HMEC	breast
23	chr8:11354000-11357200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:11354000-11357200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:11354000-11357200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:11354000-11357600	Enhancers	Thymus	Thymus
27	chr8:11354200-11354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:11354200-11355000	Enhancers	HSMM	muscle
29	chr8:11354200-11356000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
30	chr8:11354200-11356000	Enhancers	NHEK	skin
31	chr8:11354200-11357200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:11354200-11357400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:11354400-11355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:11354400-11355400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:11354400-11356600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:11354400-11356600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:11354400-11356600	Weak transcription	NHDF-Ad	bronchial
38	chr8:11354400-11356800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:11354400-11356800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr8:11354400-11357200	Weak transcription	NHLF	lung
41	chr8:11354400-11357400	Enhancers	Primary T cells from cord blood	blood
42	chr8:11354400-11357400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:11354400-11357400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:11354400-11357600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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