Variant report

Variant	rs8032033
Chromosome Location	chr15:82457896-82457897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:82457517-82460234	SK-N-SH	brain:	n/a	n/a
2	EP300	chr15:82457560-82460221	SK-N-SH	brain:	n/a	chr15:82459090-82459104 chr15:82458907-82458916 chr15:82457779-82457793 chr15:82459094-82459108 chr15:82459130-82459138

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82456960..82458670-chr15:82467666..82470258,2	MCF-7	breast:
2	chr15:82445490..82448041-chr15:82456546..82458879,2	MCF-7	breast:

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1128431	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11852244	0.84[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11853682	0.89[ASN][1000 genomes]
rs11854157	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs11855145	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11856561	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973420	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs16973451	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16973453	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17354842	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292071	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs28529095	0.84[ASN][1000 genomes]
rs28539162	0.86[ASN][1000 genomes]
rs28542949	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28578791	0.82[ASN][1000 genomes]
rs28665836	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28675984	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28754625	0.84[ASN][1000 genomes]
rs28883606	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3973890	0.90[JPT][hapmap]
rs4725	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4778983	0.87[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs55914836	0.86[ASN][1000 genomes]
rs56394250	0.81[ASN][1000 genomes]
rs57014042	0.81[ASN][1000 genomes]
rs60855901	0.86[ASN][1000 genomes]
rs61203524	0.83[ASN][1000 genomes]
rs6495644	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66672254	0.84[ASN][1000 genomes]
rs66701409	0.86[ASN][1000 genomes]
rs71156029	0.84[ASN][1000 genomes]
rs7162177	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73451393	0.83[ASN][1000 genomes]
rs8023960	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8028284	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs8034586	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8040160	0.82[ASN][1000 genomes]
rs8042665	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920827	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.96[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	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs8032033	RP11-152F13.3	cis	Esophagus Mucosa	GTEx
rs8032033	RP11-152F13.7	cis	Esophagus Mucosa	GTEx
rs8032033	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs8032033	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs8032033	RP11-152F13.3	cis	lung	GTEx
rs8032033	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs8032033	RP13-608F4.1	cis	Stomach	GTEx
rs8032033	FLJ22795///LOC727751	N/A	lymphoblastoid	RTeQTL
rs8032033	RP11-152F13.7	cis	lung	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82419200-82470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:82420400-82458400	Weak transcription	HepG2	liver
3	chr15:82431200-82461200	Weak transcription	Small Intestine	intestine
4	chr15:82432600-82476400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:82433400-82458400	Weak transcription	Fetal Kidney	kidney
7	chr15:82439800-82465600	Weak transcription	K562	blood
8	chr15:82440400-82458200	Weak transcription	HUVEC	blood vessel
9	chr15:82441400-82469600	Weak transcription	Fetal Brain Male	brain
10	chr15:82444400-82465200	Weak transcription	Brain Germinal Matrix	brain
11	chr15:82444600-82458000	Weak transcription	NHLF	lung
12	chr15:82444600-82495800	Weak transcription	Fetal Intestine Small	intestine
13	chr15:82450200-82463400	Weak transcription	Hela-S3	cervix
14	chr15:82451000-82469800	Weak transcription	Psoas Muscle	Psoas
15	chr15:82451400-82458200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:82452200-82463200	Weak transcription	Fetal Heart	heart
17	chr15:82452600-82470600	Weak transcription	Esophagus	oesophagus
18	chr15:82453200-82464000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:82453400-82458200	Weak transcription	NHDF-Ad	bronchial
20	chr15:82453400-82464600	Weak transcription	NHEK	skin
21	chr15:82454400-82458600	Strong transcription	Primary T cells from cord blood	blood
22	chr15:82455200-82458000	Weak transcription	GM12878-XiMat	blood
23	chr15:82455200-82458400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:82455400-82459200	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:82455400-82462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:82455400-82463400	Weak transcription	Right Ventricle	heart
27	chr15:82455400-82464600	Weak transcription	HMEC	breast
28	chr15:82455400-82466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:82455400-82466800	Weak transcription	Brain Substantia Nigra	brain
30	chr15:82455400-82475200	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:82455400-82475200	Weak transcription	Pancreas	Pancrea
32	chr15:82455600-82458200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:82455600-82459000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr15:82455600-82459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:82455600-82460000	Weak transcription	Primary B cells from cord blood	blood
36	chr15:82455600-82463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:82455600-82464600	Weak transcription	Placenta	Placenta
38	chr15:82455600-82469200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:82455600-82475200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:82455800-82464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:82455800-82467200	Weak transcription	Spleen	Spleen
42	chr15:82455800-82469800	Weak transcription	Ovary	ovary
43	chr15:82456000-82458000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:82456000-82458200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:82456000-82458600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:82456000-82463400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:82456000-82469800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:82456000-82475800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:82456000-82475800	Weak transcription	Lung	lung
50	chr15:82456000-82510000	Weak transcription	Thymus	Thymus

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