Variant report

Variant	rs11070442
Chromosome Location	chr15:45443764-45443765
allele	C/T
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	POLR2A	chr15:45442077-45444785	K562	blood:	n/a	n/a
2	POLR2A	chr15:45443369-45444167	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:45443109-45445041	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:45443744-45444831	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
2	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:

Variant related genes	Relation type
DUOX1	TF binding region
ENSG00000171763	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10851420	1.00[CEU][hapmap]
rs1108085	1.00[CEU][hapmap]
rs16939755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16977754	1.00[CEU][hapmap]
rs1961660	1.00[CEU][hapmap]
rs2002813	1.00[CEU][hapmap]
rs2271435	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs269862	1.00[CEU][hapmap]
rs3743222	1.00[CEU][hapmap]
rs3784576	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4775744	1.00[CEU][hapmap]
rs7171366	1.00[CEU][hapmap]
rs7180106	1.00[CEU][hapmap]
rs7183046	1.00[CEU][hapmap]
rs73425660	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73425663	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs765787	0.94[JPT][hapmap]
rs953733	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv457125	chr15:45420718-45450323	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv569314	chr15:45420718-45450323	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv520580	chr15:45438537-45457349	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
13	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45428600-45444400	Weak transcription	Pancreas	Pancrea
3	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:45429400-45443800	Weak transcription	Ovary	ovary
5	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
6	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
8	chr15:45435200-45444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:45436400-45444000	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
12	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:45439200-45449800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:45439400-45454800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:45439800-45455000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:45440200-45443800	Weak transcription	Fetal Intestine Large	intestine
18	chr15:45440400-45455000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
20	chr15:45441000-45449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:45441000-45458000	Weak transcription	Primary T cells from cord blood	blood
22	chr15:45441200-45443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45441200-45449200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:45441200-45458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:45441400-45444600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:45441400-45449000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:45441600-45444000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:45441600-45446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:45441600-45446200	Strong transcription	Esophagus	oesophagus
30	chr15:45441600-45447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:45441600-45447400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:45441600-45447400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:45441600-45449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:45441600-45449200	Weak transcription	HMEC	breast
35	chr15:45441600-45454800	Weak transcription	Left Ventricle	heart
36	chr15:45441800-45449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:45441800-45454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:45442000-45455000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:45442200-45450000	Weak transcription	Fetal Brain Female	brain
40	chr15:45442200-45450400	Strong transcription	Gastric	stomach
41	chr15:45442200-45455000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:45442200-45457600	Weak transcription	Small Intestine	intestine
43	chr15:45442400-45448000	Strong transcription	Lung	lung
44	chr15:45442400-45458000	Weak transcription	Primary B cells from cord blood	blood
45	chr15:45442600-45444800	Strong transcription	Spleen	Spleen
46	chr15:45442600-45445000	Strong transcription	Fetal Intestine Small	intestine
47	chr15:45442600-45445000	Strong transcription	Placenta	Placenta
48	chr15:45442600-45446000	Strong transcription	NHEK	skin
49	chr15:45442800-45443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:45442800-45444200	Weak transcription	Fetal Muscle Trunk	muscle

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