Variant report

Variant	rs1706779
Chromosome Location	chr15:45437606-45437607
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	chr15:45437194-45437706	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
2	chr15:45428900..45431530-chr15:45437116..45439567,2	K562	blood:

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

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

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

rs_ID	r²[population]
rs12438970	1.00[CEU][hapmap]
rs1611896	0.81[ASN][1000 genomes]
rs1617207	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1625404	0.84[ASN][1000 genomes]
rs1625779	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1632144	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1648280	1.00[JPT][hapmap]
rs1648290	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1648291	1.00[JPT][hapmap]
rs1648292	1.00[JPT][hapmap]
rs1648298	1.00[JPT][hapmap]
rs1648300	1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs1648301	1.00[JPT][hapmap]
rs1648314	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1648315	0.86[ASN][1000 genomes]
rs1706765	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706819	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1706823	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1706828	1.00[JPT][hapmap]
rs2292468	0.82[JPT][hapmap]
rs2458240	1.00[JPT][hapmap]
rs2458241	1.00[JPT][hapmap]
rs2668750	1.00[JPT][hapmap]
rs2899376	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2899377	1.00[JPT][hapmap]
rs732622	0.81[ASN][1000 genomes]
rs938129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938130	0.81[JPT][hapmap];0.87[ASN][1000 genomes]

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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45426600-45438400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:45426600-45440200	Weak transcription	HMEC	breast
3	chr15:45426800-45438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
5	chr15:45428600-45438200	Weak transcription	Brain Substantia Nigra	brain
6	chr15:45428600-45444400	Weak transcription	Pancreas	Pancrea
7	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:45429200-45438200	Weak transcription	Placenta	Placenta
9	chr15:45429400-45443800	Weak transcription	Ovary	ovary
10	chr15:45430000-45441200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:45431800-45442600	Weak transcription	Fetal Intestine Small	intestine
14	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
15	chr15:45435200-45438400	Strong transcription	NHEK	skin
16	chr15:45435200-45444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:45435800-45437800	Strong transcription	Gastric	stomach
18	chr15:45436400-45440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:45436400-45444000	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:45436600-45438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:45436800-45438400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:45437200-45438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:45437200-45438800	Weak transcription	Esophagus	oesophagus
24	chr15:45437600-45437800	Genic enhancers	Lung	lung

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