Variant report

Variant	rs11993275
Chromosome Location	chr8:118890144-118890145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10107685	0.80[CEU][hapmap]
rs12541851	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12542013	0.90[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543508	0.80[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544064	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs12548703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12549700	0.90[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13263609	0.90[CEU][hapmap]
rs13265834	0.90[CEU][hapmap]
rs17430533	0.80[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450772	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450793	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs17503900	0.83[YRI][hapmap]
rs3923167	0.80[CEU][hapmap]
rs4256623	0.80[CEU][hapmap]
rs4339678	0.90[CEU][hapmap]
rs4345585	0.80[CEU][hapmap]
rs4515578	0.80[CEU][hapmap]
rs6981280	0.80[CEU][hapmap]
rs6991164	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007139	0.90[CEU][hapmap]
rs72673947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823796	0.82[CHB][hapmap]
rs7842361	0.80[CEU][hapmap]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11993275	TRPS1	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
5	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
6	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:118877800-118896200	Weak transcription	HepG2	liver
8	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:118881400-118904600	Weak transcription	Lung	lung
11	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
12	chr8:118881600-118892400	Weak transcription	HMEC	breast
13	chr8:118881800-118895400	Weak transcription	Liver	Liver
14	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
16	chr8:118884000-118891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:118884000-118893200	Weak transcription	NHEK	skin
18	chr8:118884200-118893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:118884400-118893200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:118884400-118895400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:118884600-118890800	Enhancers	Osteobl	bone
22	chr8:118885600-118895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:118887800-118890400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:118888000-118890200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:118888000-118893400	Enhancers	NHDF-Ad	bronchial
26	chr8:118888200-118891000	Weak transcription	Small Intestine	intestine
27	chr8:118888200-118894400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:118888600-118892000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:118888600-118892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:118888600-118893600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:118889000-118890400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:118889000-118891000	Enhancers	NHLF	lung
34	chr8:118889000-118893600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:118889200-118890400	Enhancers	Fetal Muscle Leg	muscle
36	chr8:118889200-118891400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:118889200-118893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:118889400-118890600	Enhancers	NH-A	brain
39	chr8:118889400-118893800	Weak transcription	Adipose Nuclei	Adipose
40	chr8:118889600-118893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:118889800-118890200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:118889800-118890200	Weak transcription	Aorta	Aorta
43	chr8:118889800-118890200	Enhancers	A549	lung
44	chr8:118889800-118890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:118889800-118893200	Weak transcription	HSMM	muscle
46	chr8:118889800-118895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
48	chr8:118890000-118890600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr8:118890000-118891000	Weak transcription	Psoas Muscle	Psoas
50	chr8:118890000-118892000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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