Variant report

Variant	rs77225266
Chromosome Location	chr15:45422135-45422136
allele	A/C
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	SIN3A	chr15:45421059-45422380	H1-hESC	embryonic stem cell:	n/a	chr15:45421642-45421651
2	POLR2A	chr15:45421836-45422374	HCT-116	colon:	n/a	n/a
3	YY1	chr15:45422019-45422269	HCT-116	colon:	n/a	n/a
4	MAZ	chr15:45422040-45422194	K562	blood:	n/a	chr15:45422126-45422135
5	POLR2A	chr15:45422019-45422417	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr15:45421948-45422315	ECC-1	luminal epithelium:	n/a	chr15:45422126-45422135
7	POLR2A	chr15:45422041-45422436	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr15:45421971-45422189	MCF10A-Er-Src	breast:	n/a	chr15:45422080-45422089
9	POLR2A	chr15:45421889-45422386	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45422095-45422145	NHBE	bronchial:	n/a
2	chr15:45422095-45422145	BJ	skin:	n/a
3	chr15:45422095-45422145	SKMC	muscle:	n/a
4	chr15:45422095-45422145	AG10803	skin:	n/a
5	chr15:45422095-45422145	GM12878	blood:	n/a
6	chr15:45422095-45422145	CMK	blood:	n/a
7	chr15:45422095-45422145	HepG2	liver:	n/a
8	chr15:45422095-45422145	NB4	blood:	n/a
9	chr15:45422095-45422145	HCPEpiC	choroid plexus:	n/a
10	chr15:45422095-45422145	GM12891	blood:	n/a
11	chr15:45422095-45422145	SK-N-MC	brain:	n/a
12	chr15:45422095-45422145	PrEC	prostate:	n/a
13	chr15:45422095-45422145	GM19239	blood:	n/a
14	chr15:45422095-45422145	HRPEpiC	eye:	n/a
15	chr15:45422095-45422145	RPTEC	kidney:	n/a
16	chr15:45422095-45422145	ovcar-3	ovarian:	n/a
17	chr15:45422095-45422145	HCM	heart:	n/a
18	chr15:45422095-45422145	SAEC	small airway:	n/a
19	chr15:45422095-45422145	Jurkat	blood:	n/a
20	chr15:45422095-45422145	AG04450	lung:	fetal
21	chr15:45422095-45422145	HAEpiC	amniotic membrane:	n/a
22	chr15:45422095-45422145	GM06990	blood:	n/a
23	chr15:45422095-45422145	HCT-116	colon:	n/a
24	chr15:45422095-45422145	HEEpiC	esophagus:	n/a
25	chr15:45422095-45422145	NHDF-neo	bronchial:	n/a
26	chr15:45422095-45422145	NT2-D1	testis:	n/a
27	chr15:45422095-45422145	HCF	heart:	n/a
28	chr15:45422095-45422145	HRE	kidney:	n/a
29	chr15:45422095-45422145	NH-A	brain:	n/a
30	chr15:45422095-45422145	HIPEpiC	eye:	n/a
31	chr15:45422095-45422145	A549	lung:	n/a
32	chr15:45422095-45422145	SK-N-SH_RA	brain:	n/a
33	chr15:45422095-45422145	K562	blood:	n/a
34	chr15:45422095-45422145	HEK293	kidney:	embryo
35	chr15:45422095-45422145	Hela-S3	cervix:	n/a
36	chr15:45422095-45422145	U87	brain:	n/a
37	chr15:45422095-45422145	HMEC	breast:	n/a
38	chr15:45422095-45422145	ProgFib	skin:	n/a
39	chr15:45422095-45422145	AG09309	skin:	n/a
40	chr15:45422095-45422145	Caco-2	colon:	n/a
41	chr15:45422095-45422145	IMR90	lung:	fetal
42	chr15:45422095-45422145	PANC-1	pancreas:	n/a
43	chr15:45422095-45422145	LNCaP	prostate:	n/a
44	chr15:45422095-45422145	AoSMC	blood vessel:	n/a
45	chr15:45422095-45422145	Hepatocyte	liver:	n/a
46	chr15:45422095-45422145	MCF10A-Er-Src	breast:	n/a
47	chr15:45422095-45422145	BE2_C	brain:	n/a
48	chr15:45422095-45422145	GM12892	blood:	n/a
49	chr15:45422095-45422145	SK-N-SH	brain:	n/a
50	chr15:45422095-45422145	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
2	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:

No data

Variant related genes	Relation type
DUOX1	TF binding region
DUOXA1	TF binding region
DUOXA1	CpG island
DUOX1	CpG island
ENSG00000137857	Chromatin interaction
ENSG00000140254	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
12	esv1002924	chr15:45412284-45424799	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	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
14	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
15	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
16	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45420600-45422800	Active TSS	Esophagus	oesophagus
2	chr15:45420800-45422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:45420800-45423000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:45421000-45422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:45421000-45422200	Flanking Active TSS	Lung	lung
6	chr15:45421000-45422400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:45421000-45422400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr15:45421000-45422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr15:45421000-45422600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:45421000-45422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:45421000-45422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr15:45421000-45422600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr15:45421200-45422200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:45421200-45422200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:45421200-45422200	Bivalent Enhancer	Placenta	Placenta
18	chr15:45421200-45422200	Active TSS	Right Ventricle	heart
19	chr15:45421200-45422400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:45421200-45422400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:45421200-45422400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr15:45421200-45422400	Active TSS	Right Atrium	heart
23	chr15:45421200-45422400	Active TSS	NHEK	skin
24	chr15:45421200-45422600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:45421200-45422600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:45421200-45422800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:45421200-45422800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr15:45421200-45423200	Active TSS	Gastric	stomach
29	chr15:45421400-45422200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
30	chr15:45421400-45422400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:45421400-45422400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:45421400-45422400	Bivalent Enhancer	Fetal Brain Male	brain
33	chr15:45421400-45422400	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr15:45421400-45422600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:45421400-45422600	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr15:45421400-45422600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:45421400-45422600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr15:45421400-45422600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr15:45421400-45422800	Bivalent Enhancer	Spleen	Spleen
40	chr15:45421400-45423000	Flanking Active TSS	HMEC	breast
41	chr15:45421600-45422200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr15:45421600-45422200	Bivalent/Poised TSS	Left Ventricle	heart
43	chr15:45421600-45422200	Bivalent/Poised TSS	Small Intestine	intestine
44	chr15:45421600-45422400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:45421600-45422400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr15:45421600-45422400	Enhancers	Pancreas	Pancrea
47	chr15:45421600-45422400	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr15:45421600-45422600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:45421600-45422600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
50	chr15:45421800-45422200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

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