Variant report

Variant	rs10067766
Chromosome Location	chr5:96002020-96002021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96001057..96002966-chr5:96015196..96017728,2	K562	blood:
2	chr5:96001062..96004442-chr5:96008712..96011350,3	MCF-7	breast:
3	chr5:95994913..95997156-chr5:96000541..96002076,2	MCF-7	breast:
4	chr5:96000044..96002037-chr5:96005700..96007687,2	MCF-7	breast:
5	chr5:96001506..96003727-chr5:96014793..96017258,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10045215	0.84[ASN][1000 genomes]
rs10075736	0.84[ASN][1000 genomes]
rs1421911	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs151835	1.00[JPT][hapmap]
rs151904	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs152005	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs152014	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs152017	0.82[JPT][hapmap]
rs152020	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2351245	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs246109	0.84[ASN][1000 genomes]
rs26482	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26483	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs26484	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs26485	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26503	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs26504	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs28040	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28093	0.85[JPT][hapmap]
rs28104	0.85[JPT][hapmap]
rs31248	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs31249	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs31250	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4267886	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4590196	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6556937	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6860934	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7704167	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7705824	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7733671	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10067766	CTC-506B8.1	cis	Adipose Subcutaneous	GTEx
rs10067766	CAST	cis	Esophagus Muscularis	GTEx
rs10067766	CAST	cis	Whole Blood	GTEx
rs10067766	CTC-506B8.1	cis	Whole Blood	GTEx
rs10067766	CAST	cis	Adipose Subcutaneous	GTEx
rs10067766	CTC-506B8.1	cis	Nerve Tibial	GTEx
rs10067766	CAST	cis	Nerve Tibial	GTEx
rs10067766	CAST	cis	lung	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95999400-96002600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:95999400-96002800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:95999400-96005000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:95999400-96018200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:95999400-96038000	Weak transcription	Fetal Stomach	stomach
6	chr5:95999600-96002200	Weak transcription	Esophagus	oesophagus
7	chr5:95999600-96003800	Weak transcription	Fetal Kidney	kidney
8	chr5:95999600-96003800	Weak transcription	Gastric	stomach
9	chr5:95999600-96004400	Weak transcription	Right Atrium	heart
10	chr5:95999600-96004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:95999600-96004600	Weak transcription	Lung	lung
12	chr5:95999600-96004600	Weak transcription	Ovary	ovary
13	chr5:95999600-96006800	Weak transcription	Right Ventricle	heart
14	chr5:95999600-96006800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:95999600-96006800	Weak transcription	Spleen	Spleen
16	chr5:95999600-96012400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:95999600-96016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:95999600-96016600	Weak transcription	HSMMtube	muscle
19	chr5:95999600-96026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:95999600-96028200	Weak transcription	Aorta	Aorta
21	chr5:95999600-96037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:95999600-96038000	Weak transcription	Fetal Lung	lung
23	chr5:95999800-96004400	Weak transcription	GM12878-XiMat	blood
24	chr5:95999800-96010800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:95999800-96022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:95999800-96024600	Weak transcription	Fetal Heart	heart
27	chr5:96000000-96005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:96000400-96003800	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:96000400-96004400	Weak transcription	Left Ventricle	heart
30	chr5:96000400-96005200	Weak transcription	Primary B cells from cord blood	blood
31	chr5:96000400-96005400	Weak transcription	Pancreas	Pancrea
32	chr5:96000400-96007600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:96000400-96010800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:96000400-96013400	Weak transcription	Placenta	Placenta
35	chr5:96000400-96016400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:96000400-96018400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:96000600-96002400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:96000600-96004000	Weak transcription	HepG2	liver
39	chr5:96000600-96010800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:96000600-96011000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:96000600-96013200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:96000800-96002400	Weak transcription	A549	lung
43	chr5:96000800-96003800	Weak transcription	Liver	Liver
44	chr5:96000800-96005000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:96000800-96007000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:96000800-96010800	Weak transcription	Osteobl	bone
47	chr5:96000800-96011000	Weak transcription	HUVEC	blood vessel
48	chr5:96000800-96011800	Weak transcription	Primary T cells from cord blood	blood
49	chr5:96000800-96013000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:96000800-96016200	Weak transcription	NH-A	brain

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