Variant report

Variant	rs11243014
Chromosome Location	chr6:5511614-5511615
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	chr6:5511127..5514739-chr6:5516626..5520619,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10458088	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10900969	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900970	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11243017	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11758395	0.89[EUR][1000 genomes]
rs12175572	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12527880	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17140763	1.00[YRI][hapmap]
rs6935992	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7746396	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9328309	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9378427	0.80[ASN][1000 genomes]
rs9378957	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9378958	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9378959	0.88[CHB][hapmap]
rs9378960	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9378962	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9392690	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9392691	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9405272	0.83[CHB][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9405274	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9405842	0.94[CHB][hapmap];0.90[CHD][hapmap]
rs9405843	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11243014	FAM150B	trans	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:5488600-5521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:5498800-5513000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:5500400-5511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:5500400-5525000	Weak transcription	Spleen	Spleen
6	chr6:5501000-5511800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
8	chr6:5501200-5511800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:5501400-5513400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:5506600-5512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:5507600-5512400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:5508000-5511800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:5508200-5512000	Weak transcription	Thymus	Thymus
15	chr6:5508200-5512400	Weak transcription	Fetal Brain Male	brain
16	chr6:5508200-5516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:5508200-5519400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:5508400-5516400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:5508600-5517200	Weak transcription	Primary T cells from cord blood	blood
20	chr6:5509000-5513800	Weak transcription	GM12878-XiMat	blood
21	chr6:5509000-5515000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:5509000-5517200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:5509000-5519400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:5509000-5521000	Weak transcription	Fetal Thymus	thymus
25	chr6:5509000-5524400	Weak transcription	Primary B cells from cord blood	blood
26	chr6:5509600-5527400	Weak transcription	Lung	lung
27	chr6:5510000-5513200	Weak transcription	Left Ventricle	heart
28	chr6:5510400-5512800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:5510600-5512000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:5510600-5512000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:5510600-5518200	Weak transcription	Fetal Heart	heart
32	chr6:5510800-5512200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:5511000-5513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:5511000-5514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:5511200-5512200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:5511200-5512800	Enhancers	NHDF-Ad	bronchial
37	chr6:5511200-5514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
39	chr6:5511400-5512400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:5511400-5512400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:5511400-5512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:5511400-5516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:5511400-5518200	Weak transcription	Gastric	stomach
44	chr6:5511400-5518200	Weak transcription	Right Ventricle	heart
45	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
46	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
47	chr6:5511600-5511800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:5511600-5513000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:5511600-5513000	Enhancers	Osteobl	bone

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