Variant report

Variant	rs1706804
Chromosome Location	chr15:45444518-45444519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45444084-45444745	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:45442077-45444785	K562	blood:	n/a	n/a
3	POLR2A	chr15:45444484-45444833	HepG2	liver:	n/a	n/a
4	MAX	chr15:45444402-45444809	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:45444283-45444759	GM12878	blood:	n/a	n/a
6	E2F6	chr15:45444398-45444921	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:45444041-45444774	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr15:45443109-45445041	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:45443744-45444831	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45444508-45444558	Hepatocyte	liver:	n/a
2	chr15:45444508-45444558	MCF10A-Er-Src	breast:	n/a
3	chr15:45444508-45444558	HepG2	liver:	n/a
4	chr15:45444508-45444558	AG09309	skin:	n/a
5	chr15:45444508-45444558	U87	brain:	n/a
6	chr15:45444508-45444558	HCPEpiC	choroid plexus:	n/a
7	chr15:45444508-45444558	K562	blood:	n/a
8	chr15:45444508-45444558	HAEpiC	amniotic membrane:	n/a
9	chr15:45444508-45444558	BE2_C	brain:	n/a
10	chr15:45444508-45444558	LNCaP	prostate:	n/a
11	chr15:45444508-45444558	Hela-S3	cervix:	n/a
12	chr15:45444508-45444558	NHBE	bronchial:	n/a
13	chr15:45444508-45444558	HPAEpiC	pulmonary alveolar:	n/a
14	chr15:45444508-45444558	AG04449	skin:	fetal
15	chr15:45444508-45444558	MCF-7	breast:	n/a
16	chr15:45444508-45444558	AoSMC	blood vessel:	n/a
17	chr15:45444508-45444558	ECC-1	luminal epithelium:	n/a
18	chr15:45444508-45444558	HUVEC	blood vessel:	n/a
19	chr15:45444508-45444558	NB4	blood:	n/a
20	chr15:45444508-45444558	RPTEC	kidney:	n/a
21	chr15:45444508-45444558	HRCEpiC	kidney:	n/a
22	chr15:45444508-45444558	HNPCEpiC	eye:	n/a
23	chr15:45444508-45444558	AG10803	skin:	n/a
24	chr15:45444508-45444558	NH-A	brain:	n/a
25	chr15:45444508-45444558	SK-N-SH_RA	brain:	n/a
26	chr15:45444508-45444558	NT2-D1	testis:	n/a
27	chr15:45444508-45444558	PANC-1	pancreas:	n/a
28	chr15:45444508-45444558	HL-60	blood:	n/a
29	chr15:45444508-45444558	SAEC	small airway:	n/a
30	chr15:45444508-45444558	CMK	blood:	n/a
31	chr15:45444508-45444558	IMR90	lung:	fetal
32	chr15:45444508-45444558	ProgFib	skin:	n/a
33	chr15:45444508-45444558	GM06990	blood:	n/a
34	chr15:45444508-45444558	HRPEpiC	eye:	n/a
35	chr15:45444508-45444558	BJ	skin:	n/a
36	chr15:45444508-45444558	HMEC	breast:	n/a
37	chr15:45444508-45444558	H1-hESC	embryonic stem cell:	embryo
38	chr15:45444508-45444558	SK-N-MC	brain:	n/a
39	chr15:45444508-45444558	GM12878	blood:	n/a
40	chr15:45444508-45444558	HCT-116	colon:	n/a
41	chr15:45444508-45444558	PrEC	prostate:	n/a
42	chr15:45444508-45444558	HEK293	kidney:	embryo
43	chr15:45444508-45444558	Jurkat	blood:	n/a
44	chr15:45444508-45444558	SKMC	muscle:	n/a
45	chr15:45444508-45444558	T-47D	breast:	n/a
46	chr15:45444508-45444558	A549	lung:	n/a
47	chr15:45444508-45444558	HEEpiC	esophagus:	n/a
48	chr15:45444508-45444558	HCM	heart:	n/a
49	chr15:45444508-45444558	GM12891	blood:	n/a
50	chr15:45444508-45444558	PFSK-1	brain:	n/a

(count:2 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12438755	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs12899786	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12908943	0.95[EUR][1000 genomes]
rs1648311	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16939752	0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs16939774	0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2256257	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271436	0.90[ASN][1000 genomes]
rs2292467	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2458236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375309	0.90[ASN][1000 genomes]
rs3784584	0.88[ASN][1000 genomes]
rs3959644	0.95[CEU][hapmap]
rs55675432	0.82[ASN][1000 genomes]
rs56294809	0.87[ASN][1000 genomes]
rs60001836	0.94[EUR][1000 genomes]
rs7173906	0.89[ASN][1000 genomes]
rs7174075	0.90[ASN][1000 genomes]
rs7174412	0.90[ASN][1000 genomes]
rs7182508	0.89[ASN][1000 genomes]
rs74011382	0.87[ASN][1000 genomes]
rs8038802	0.90[ASN][1000 genomes]
rs8040896	0.95[EUR][1000 genomes]
rs8043418	0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1706804	CTD-2651B20.1	cis	Artery Tibial	GTEx

Chromatin state (count:58 , 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	chr15:45441400-45444600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:45441400-45449000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:45441600-45446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:45441600-45446200	Strong transcription	Esophagus	oesophagus
23	chr15:45441600-45447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:45441600-45447400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:45441600-45447400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:45441600-45449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:45441600-45449200	Weak transcription	HMEC	breast
28	chr15:45441600-45454800	Weak transcription	Left Ventricle	heart
29	chr15:45441800-45449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:45441800-45454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:45442000-45455000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:45442200-45450000	Weak transcription	Fetal Brain Female	brain
33	chr15:45442200-45450400	Strong transcription	Gastric	stomach
34	chr15:45442200-45455000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:45442200-45457600	Weak transcription	Small Intestine	intestine
36	chr15:45442400-45448000	Strong transcription	Lung	lung
37	chr15:45442400-45458000	Weak transcription	Primary B cells from cord blood	blood
38	chr15:45442600-45444800	Strong transcription	Spleen	Spleen
39	chr15:45442600-45445000	Strong transcription	Fetal Intestine Small	intestine
40	chr15:45442600-45445000	Strong transcription	Placenta	Placenta
41	chr15:45442600-45446000	Strong transcription	NHEK	skin
42	chr15:45443000-45445000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:45443000-45445000	Strong transcription	Thymus	Thymus
44	chr15:45443000-45448400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:45443200-45445000	Strong transcription	Fetal Stomach	stomach
46	chr15:45443400-45458000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:45443600-45445200	Strong transcription	Right Ventricle	heart
48	chr15:45443800-45444600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:45443800-45444800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:45443800-45444800	Strong transcription	Ovary	ovary

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