Variant report

Variant	rs189587952
Chromosome Location	chr15:45421235-45421236
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	CTBP2	chr15:45421049-45422126	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr15:45421059-45422380	H1-hESC	embryonic stem cell:	n/a	chr15:45421642-45421651
3	SUZ12	chr15:45420785-45422027	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:45421066-45421370	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
2	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
3	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45410400-45421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:45420600-45422800	Active TSS	Esophagus	oesophagus
3	chr15:45420800-45421400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:45420800-45422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:45420800-45423000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:45421000-45421400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr15:45421000-45421400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr15:45421000-45421400	Bivalent Enhancer	Fetal Lung	lung
9	chr15:45421000-45421600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:45421000-45421600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:45421000-45421600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
12	chr15:45421000-45421800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr15:45421000-45421800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:45421000-45421800	Bivalent Enhancer	Fetal Heart	heart
15	chr15:45421000-45422000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:45421000-45422000	Active TSS	Brain Substantia Nigra	brain
17	chr15:45421000-45422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:45421000-45422200	Flanking Active TSS	Lung	lung
19	chr15:45421000-45422400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:45421000-45422400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr15:45421000-45422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr15:45421000-45422600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:45421000-45422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:45421000-45422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:45421000-45422600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr15:45421200-45421400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:45421200-45421400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:45421200-45421400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr15:45421200-45421400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr15:45421200-45421400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:45421200-45421400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:45421200-45421400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:45421200-45421400	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
38	chr15:45421200-45421400	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
41	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr15:45421200-45421400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr15:45421200-45421600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:45421200-45421600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr15:45421200-45421600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr15:45421200-45421600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr15:45421200-45421600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr15:45421200-45421600	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr15:45421200-45421600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr15:45421200-45421600	Bivalent Enhancer	Left Ventricle	heart

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