Variant report

Variant	rs190496740
Chromosome Location	chr15:31506692-31506693
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	CTCF	chr15:31506590-31508289	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
2	MTA3	chr15:31506588-31509494	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:31506646-31508392	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:31506496-31509522	GM18505	blood:	n/a	n/a
5	POLR2A	chr15:31506401-31509581	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:31506608-31509626	GM19099	blood:	n/a	n/a
7	ELF1	chr15:31506672-31509094	GM12878	blood:	n/a	chr15:31507337-31507349 chr15:31508221-31508233 chr15:31508806-31508815
8	POLR2A	chr15:31506507-31509270	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:31506439-31511139	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:31506618-31509311	GM19193	blood:	n/a	n/a
11	POLR2A	chr15:31506442-31513459	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:31506637-31509658	Raji	blood:	n/a	n/a
13	POLR2A	chr15:31506662-31509249	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000259448	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats 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	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903836	chr15:31330280-31512652	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	esv3389877	chr15:31506685-31509233	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31501800-31507200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:31502000-31506800	Weak transcription	Right Ventricle	heart
3	chr15:31503800-31507200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:31503800-31507200	Weak transcription	Aorta	Aorta
5	chr15:31504000-31507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:31504000-31507800	Enhancers	Placenta	Placenta
7	chr15:31504400-31507800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:31504800-31506800	Weak transcription	Left Ventricle	heart
9	chr15:31505000-31506800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr15:31505000-31506800	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:31505000-31507200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:31505000-31507200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:31505400-31506800	Weak transcription	NHEK	skin
14	chr15:31505600-31506800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:31505600-31506800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:31505600-31507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:31505800-31507200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:31506200-31507200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr15:31506400-31506800	Enhancers	GM12878-XiMat	blood
20	chr15:31506400-31506800	Enhancers	Hela-S3	cervix
21	chr15:31506400-31507000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr15:31506400-31507000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:31506400-31507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:31506400-31507200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr15:31506400-31507200	Enhancers	Liver	Liver
26	chr15:31506400-31507400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:31506400-31507400	Enhancers	Primary B cells from cord blood	blood
28	chr15:31506400-31507400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:31506400-31507400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr15:31506400-31507400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:31506400-31507400	Enhancers	Esophagus	oesophagus
32	chr15:31506400-31507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:31506400-31507800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:31506400-31508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr15:31506400-31508000	Flanking Active TSS	Fetal Thymus	thymus
36	chr15:31506600-31506800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr15:31506600-31506800	Flanking Active TSS	HepG2	liver
38	chr15:31506600-31507000	Enhancers	Primary T cells from cord blood	blood
39	chr15:31506600-31507000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:31506600-31507000	Enhancers	A549	lung
41	chr15:31506600-31507200	Enhancers	Adipose Nuclei	Adipose
42	chr15:31506600-31507200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr15:31506600-31507200	Enhancers	HMEC	breast
44	chr15:31506600-31507400	Enhancers	Primary B cells from peripheral blood	blood
45	chr15:31506600-31507400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:31506600-31507400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:31506600-31507400	Enhancers	Brain Germinal Matrix	brain
48	chr15:31506600-31507400	Enhancers	Colonic Mucosa	Colon
49	chr15:31506600-31507400	Enhancers	Fetal Brain Female	brain
50	chr15:31506600-31507400	Enhancers	Psoas Muscle	Psoas

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