Variant report

Variant	rs551024598
Chromosome Location	chr15:45422416-45422417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45422019-45422417	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:45422041-45422436	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45422371-45422421	T-47D	breast:	n/a
2	chr15:45422393-45422443	HEEpiC	esophagus:	n/a
3	chr15:45422393-45422443	PrEC	prostate:	n/a
4	chr15:45422371-45422421	SK-N-SH_RA	brain:	n/a
5	chr15:45422371-45422421	LNCaP	prostate:	n/a
6	chr15:45422371-45422421	AG04450	lung:	fetal
7	chr15:45422393-45422443	SAEC	small airway:	n/a
8	chr15:45422393-45422443	SK-N-SH	brain:	n/a
9	chr15:45422371-45422421	GM06990	blood:	n/a
10	chr15:45422393-45422443	CMK	blood:	n/a
11	chr15:45422393-45422443	MCF10A-Er-Src	breast:	n/a
12	chr15:45422371-45422421	ovcar-3	ovarian:	n/a
13	chr15:45422393-45422443	IMR90	lung:	fetal
14	chr15:45422371-45422421	H1-hESC	embryonic stem cell:	embryo
15	chr15:45422393-45422443	HRCEpiC	kidney:	n/a
16	chr15:45422393-45422443	GM12892	blood:	n/a
17	chr15:45422371-45422421	MCF-7	breast:	n/a
18	chr15:45422393-45422443	AG09319	gingival:	n/a
19	chr15:45422393-45422443	HL-60	blood:	n/a
20	chr15:45422393-45422443	ECC-1	luminal epithelium:	n/a
21	chr15:45422393-45422443	Caco-2	colon:	n/a
22	chr15:45422393-45422443	Hela-S3	cervix:	n/a
23	chr15:45422371-45422421	K562	blood:	n/a
24	chr15:45422393-45422443	ovcar-3	ovarian:	n/a
25	chr15:45422371-45422421	SAEC	small airway:	n/a
26	chr15:45422393-45422443	GM06990	blood:	n/a
27	chr15:45422371-45422421	PANC-1	pancreas:	n/a
28	chr15:45422371-45422421	HRE	kidney:	n/a
29	chr15:45422393-45422443	NH-A	brain:	n/a
30	chr15:45422371-45422421	HCM	heart:	n/a
31	chr15:45422393-45422443	AG04450	lung:	fetal
32	chr15:45422371-45422421	RPTEC	kidney:	n/a
33	chr15:45422371-45422421	CMK	blood:	n/a
34	chr15:45422371-45422421	SKMC	muscle:	n/a
35	chr15:45422393-45422443	SK-N-MC	brain:	n/a
36	chr15:45422393-45422443	HRPEpiC	eye:	n/a
37	chr15:45422393-45422443	HepG2	liver:	n/a
38	chr15:45422371-45422421	ProgFib	skin:	n/a
39	chr15:45422371-45422421	PFSK-1	brain:	n/a
40	chr15:45422393-45422443	AG09309	skin:	n/a
41	chr15:45422371-45422421	ECC-1	luminal epithelium:	n/a
42	chr15:45422393-45422443	HIPEpiC	eye:	n/a
43	chr15:45422371-45422421	BE2_C	brain:	n/a
44	chr15:45422371-45422421	BJ	skin:	n/a
45	chr15:45422393-45422443	T-47D	breast:	n/a
46	chr15:45422371-45422421	A549	lung:	n/a
47	chr15:45422371-45422421	Hela-S3	cervix:	n/a
48	chr15:45422371-45422421	IMR90	lung:	fetal
49	chr15:45422393-45422443	HCT-116	colon:	n/a
50	chr15:45422371-45422421	HL-60	blood:	n/a

(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
DUOXA1	TF binding region
DUOXA1	CpG island
ENSG00000140254	Chromatin interaction
ENSG00000137857	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:51 , 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	chr15:45421000-45422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr15:45421000-45422600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr15:45421000-45422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:45421000-45422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr15:45421000-45422600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr15:45421200-45422600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:45421200-45422600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:45421200-45422800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr15:45421200-45422800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr15:45421200-45423200	Active TSS	Gastric	stomach
16	chr15:45421400-45422600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr15:45421400-45422600	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr15:45421400-45422600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:45421400-45422600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
20	chr15:45421400-45422600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr15:45421400-45422800	Bivalent Enhancer	Spleen	Spleen
22	chr15:45421400-45423000	Flanking Active TSS	HMEC	breast
23	chr15:45421600-45422600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:45421600-45422600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
25	chr15:45421800-45422800	Weak transcription	HepG2	liver
26	chr15:45422000-45422600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:45422000-45422800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr15:45422000-45422800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr15:45422200-45422600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:45422200-45422600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:45422200-45422600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:45422200-45422600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr15:45422200-45422600	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr15:45422200-45422600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
35	chr15:45422200-45423000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:45422200-45423600	Active TSS	Lung	lung
37	chr15:45422400-45422600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:45422400-45422600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr15:45422400-45422600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr15:45422400-45422600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr15:45422400-45422600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr15:45422400-45422600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:45422400-45422600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr15:45422400-45422800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:45422400-45422800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:45422400-45422800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:45422400-45422800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr15:45422400-45423200	Flanking Active TSS	NHEK	skin
49	chr15:45422400-45423400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:45422400-45425200	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links