Variant report

Variant	rs1648304
Chromosome Location	chr15:45445499-45445500
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	POLR2A	chr15:45445450-45445650	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
2	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
3	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:

Variant related genes	Relation type
DUOX1	TF binding region
ENSG00000171766	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000137857	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1620253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648310	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648313	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706807	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706812	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706815	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706817	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706827	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1706829	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2162246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292468	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2458237	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467819	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467820	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493143	1.00[JPT][hapmap]
rs7169193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
6	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
8	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:45439200-45449800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:45439400-45454800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:45439800-45455000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:45440400-45455000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
15	chr15:45441000-45449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:45441000-45458000	Weak transcription	Primary T cells from cord blood	blood
17	chr15:45441200-45449200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:45441200-45458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:45441400-45449000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:45441600-45446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:45441600-45446200	Strong transcription	Esophagus	oesophagus
22	chr15:45441600-45447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:45441600-45447400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:45441600-45447400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:45441600-45449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:45441600-45449200	Weak transcription	HMEC	breast
27	chr15:45441600-45454800	Weak transcription	Left Ventricle	heart
28	chr15:45441800-45449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:45441800-45454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:45442000-45455000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:45442200-45450000	Weak transcription	Fetal Brain Female	brain
32	chr15:45442200-45450400	Strong transcription	Gastric	stomach
33	chr15:45442200-45455000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:45442200-45457600	Weak transcription	Small Intestine	intestine
35	chr15:45442400-45448000	Strong transcription	Lung	lung
36	chr15:45442400-45458000	Weak transcription	Primary B cells from cord blood	blood
37	chr15:45442600-45446000	Strong transcription	NHEK	skin
38	chr15:45443000-45448400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:45443400-45458000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:45444600-45449000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45444600-45453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:45444600-45455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:45444800-45449000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45444800-45449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:45444800-45449200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:45444800-45454800	Weak transcription	Pancreas	Pancrea
47	chr15:45444800-45454800	Weak transcription	Spleen	Spleen
48	chr15:45444800-45455200	Weak transcription	Ovary	ovary
49	chr15:45444800-45457400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:45445000-45449000	Weak transcription	Brain Hippocampus Middle	brain

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