Variant report

Variant	rs61751061
Chromosome Location	chr15:45409732-45409733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:45409720-45409870	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr15:45409696-45410965	SK-N-SH	brain:	n/a	n/a
3	SUZ12	chr15:45403640-45410696	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:45409600-45409750	AoAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45409698-45409748	ProgFib	skin:	n/a
2	chr15:45409698-45409748	HUVEC	blood vessel:	n/a
3	chr15:45409698-45409748	T-47D	breast:	n/a
4	chr15:45409698-45409748	HepG2	liver:	n/a
5	chr15:45409698-45409748	GM19239	blood:	n/a
6	chr15:45409698-45409748	AG04450	lung:	fetal
7	chr15:45409698-45409748	U87	brain:	n/a
8	chr15:45409698-45409748	HCT-116	colon:	n/a
9	chr15:45409698-45409748	NHDF-neo	bronchial:	n/a
10	chr15:45409698-45409748	SK-N-MC	brain:	n/a
11	chr15:45409698-45409748	HCM	heart:	n/a
12	chr15:45409698-45409748	GM12878	blood:	n/a
13	chr15:45409698-45409748	HCPEpiC	choroid plexus:	n/a
14	chr15:45409698-45409748	RPTEC	kidney:	n/a
15	chr15:45409698-45409748	HRE	kidney:	n/a
16	chr15:45409698-45409748	Hepatocyte	liver:	n/a
17	chr15:45409698-45409748	CMK	blood:	n/a
18	chr15:45409698-45409748	SK-N-SH	brain:	n/a
19	chr15:45409698-45409748	PFSK-1	brain:	n/a
20	chr15:45409698-45409748	NH-A	brain:	n/a
21	chr15:45409698-45409748	NT2-D1	testis:	n/a
22	chr15:45409698-45409748	Hela-S3	cervix:	n/a
23	chr15:45409698-45409748	SKMC	muscle:	n/a
24	chr15:45409698-45409748	HIPEpiC	eye:	n/a
25	chr15:45409698-45409748	HRPEpiC	eye:	n/a
26	chr15:45409698-45409748	GM06990	blood:	n/a
27	chr15:45409698-45409748	K562	blood:	n/a
28	chr15:45409698-45409748	BE2_C	brain:	n/a
29	chr15:45409698-45409748	GM12892	blood:	n/a
30	chr15:45409698-45409748	NB4	blood:	n/a
31	chr15:45409698-45409748	HNPCEpiC	eye:	n/a
32	chr15:45409698-45409748	Jurkat	blood:	n/a
33	chr15:45409698-45409748	HEEpiC	esophagus:	n/a
34	chr15:45409698-45409748	A549	lung:	n/a
35	chr15:45409698-45409748	HL-60	blood:	n/a
36	chr15:45409698-45409748	GM12891	blood:	n/a
37	chr15:45409698-45409748	PANC-1	pancreas:	n/a
38	chr15:45409698-45409748	ECC-1	luminal epithelium:	n/a
39	chr15:45409698-45409748	HMEC	breast:	n/a
40	chr15:45409698-45409748	MCF10A-Er-Src	breast:	n/a
41	chr15:45409698-45409748	LNCaP	prostate:	n/a
42	chr15:45409698-45409748	HEK293	kidney:	embryo
43	chr15:45409698-45409748	BJ	skin:	n/a
44	chr15:45409698-45409748	PrEC	prostate:	n/a
45	chr15:45409698-45409748	AG09319	gingival:	n/a
46	chr15:45409698-45409748	AoSMC	blood vessel:	n/a
47	chr15:45409698-45409748	HRCEpiC	kidney:	n/a
48	chr15:45409698-45409748	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:45409698-45409748	MCF-7	breast:	n/a
50	chr15:45409698-45409748	SK-N-SH_RA	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:
2	chr15:45409132..45413033-chr15:45458233..45460669,3	MCF-7	breast:
3	chr15:45402965..45405384-chr15:45407818..45410560,2	K562	blood:
4	chr15:45407575..45409990-chr15:45413703..45415541,2	K562	blood:
5	chr15:45402172..45404057-chr15:45407808..45410481,2	MCF-7	breast:
6	chr15:45409152..45412317-chr15:45414366..45418660,3	K562	blood:

No data

Variant related genes	Relation type
DUOX2	TF binding region
DUOX2	CpG island
ENSG00000140254	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16977681	0.90[ASN][1000 genomes]
rs175088	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1863469	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898298	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252479	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2576091	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576092	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774518	0.96[ASN][1000 genomes]
rs4774519	0.86[EUR][1000 genomes]
rs751151	0.83[EUR][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	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	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
5	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
6	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
7	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
8	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
9	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45406000-45410800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr15:45406600-45410200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:45406600-45410400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:45408000-45410200	Bivalent Enhancer	Lung	lung
5	chr15:45408200-45410400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:45408400-45410200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr15:45408400-45410600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:45408600-45409800	Bivalent Enhancer	Fetal Heart	heart
9	chr15:45408600-45410000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:45408600-45410000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:45408600-45410000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr15:45408600-45410000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr15:45408600-45410000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr15:45408600-45410200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr15:45408600-45410400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr15:45408600-45410400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
17	chr15:45408800-45409800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr15:45408800-45409800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:45408800-45410000	Bivalent Enhancer	HUVEC	blood vessel
20	chr15:45408800-45410200	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr15:45408800-45410200	Bivalent Enhancer	Fetal Lung	lung
22	chr15:45408800-45410200	Enhancers	Pancreas	Pancrea
23	chr15:45408800-45410400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr15:45408800-45410400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:45408800-45410400	Bivalent Enhancer	Placenta	Placenta
26	chr15:45408800-45410400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr15:45409000-45409800	Bivalent Enhancer	Liver	Liver
28	chr15:45409000-45410000	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr15:45409000-45410000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:45409000-45410000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:45409000-45410000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr15:45409000-45410000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr15:45409000-45410000	Bivalent Enhancer	HMEC	breast
34	chr15:45409000-45410200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:45409000-45410200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:45409000-45410200	Enhancers	Gastric	stomach
37	chr15:45409000-45410200	Enhancers	Spleen	Spleen
38	chr15:45409000-45410400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:45409000-45410400	Flanking Active TSS	Right Ventricle	heart
40	chr15:45409200-45410000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr15:45409200-45410000	Bivalent Enhancer	Primary T cells from cord blood	blood
42	chr15:45409200-45410000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr15:45409200-45410000	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr15:45409200-45410400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr15:45409200-45410400	Bivalent Enhancer	Left Ventricle	heart
46	chr15:45409400-45409800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr15:45409400-45409800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr15:45409400-45409800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
49	chr15:45409400-45409800	Bivalent Enhancer	Brain Substantia Nigra	brain
50	chr15:45409400-45410000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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