Variant report

Variant	rs11070439
Chromosome Location	chr15:45318572-45318573
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	chr15:45313440..45317462-chr15:45317525..45323259,9	K562	blood:

Variant related genes	Relation type
ENSG00000140263	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11070436	1.00[CEU][hapmap]
rs11632215	0.84[EUR][1000 genomes]
rs11635836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11636558	1.00[CEU][hapmap]
rs11637679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12441189	1.00[CEU][hapmap]
rs12902552	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902975	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs12913288	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs13380326	1.00[CEU][hapmap]
rs1704792	0.82[CEU][hapmap]
rs199334	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2036831	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs2055858	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470686	1.00[CEU][hapmap]
rs270822	0.83[EUR][1000 genomes]
rs34428536	0.87[ASN][1000 genomes]
rs35881035	0.89[ASN][1000 genomes]
rs3759890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3858900	0.89[ASN][1000 genomes]
rs452762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6493131	1.00[CEU][hapmap]
rs71405285	0.83[EUR][1000 genomes]
rs71478352	0.89[ASN][1000 genomes]
rs7169807	0.88[EUR][1000 genomes]
rs72722052	0.88[ASN][1000 genomes]
rs925350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs963002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
5	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv977710	chr15:45316191-45360995	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv9259	chr15:45317368-45326350	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3401551	chr15:45317760-45325058	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3370250	chr15:45318060-45325358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1811585	chr15:45318399-45323951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820185	chr15:45318399-45323951	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11070439	CTD-2008A1.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11070439	CTD-2008A1.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11070439	RP11-109D20.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11070439	SORD	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316000-45321600	Weak transcription	Aorta	Aorta
2	chr15:45316200-45326200	Weak transcription	Psoas Muscle	Psoas
3	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45316400-45319200	Enhancers	Fetal Thymus	thymus
5	chr15:45316400-45320600	Weak transcription	Fetal Kidney	kidney
6	chr15:45316400-45321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:45316400-45321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:45316400-45321400	Weak transcription	Primary T cells from cord blood	blood
9	chr15:45316400-45321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:45316400-45321600	Weak transcription	Right Atrium	heart
11	chr15:45316400-45321800	Weak transcription	Ovary	ovary
12	chr15:45316400-45323400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
14	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:45316400-45333000	Weak transcription	Lung	lung
16	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
18	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:45316600-45318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:45316600-45318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:45316600-45318600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:45316600-45318800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:45316600-45318800	Weak transcription	A549	lung
24	chr15:45316600-45319000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:45316600-45319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:45316600-45319000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:45316600-45319000	Weak transcription	Left Ventricle	heart
28	chr15:45316600-45319000	Weak transcription	Right Ventricle	heart
29	chr15:45316600-45319400	Weak transcription	Brain Angular Gyrus	brain
30	chr15:45316600-45319400	Weak transcription	Brain Germinal Matrix	brain
31	chr15:45316600-45319800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr15:45316600-45321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:45316600-45321400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:45316600-45321400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:45316600-45321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:45316600-45321400	Weak transcription	Fetal Intestine Small	intestine
37	chr15:45316600-45321400	Weak transcription	Fetal Stomach	stomach
38	chr15:45316600-45321800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:45316600-45322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:45316600-45322800	Weak transcription	Colonic Mucosa	Colon
41	chr15:45316600-45323000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:45316600-45323000	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:45316600-45324800	Weak transcription	Spleen	Spleen
44	chr15:45316600-45325400	Weak transcription	NHDF-Ad	bronchial
45	chr15:45316600-45326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
47	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
49	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach

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