Variant report

Variant	rs573399106
Chromosome Location	chr15:74911620-74911621
allele	A/G
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	POLR2A	chr15:74906714-74928682	K562	blood:	n/a	n/a
2	ZNF143	chr15:74911360-74911655	GM12878	blood:	n/a	n/a
3	WRNIP1	chr15:74911564-74911715	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:74911547-74912167	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:74910383-74911986	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:74911589-74911880	K562	blood:	n/a	n/a
7	POLR2A	chr15:74911437-74911953	K562	blood:	n/a	n/a
8	POLR2A	chr15:74910294-74921892	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:74911065-74911747	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74911034..74913432-chr15:75186630..75189281,2	MCF-7	breast:
2	chr15:74909806..74912416-chr15:75659270..75660874,2	MCF-7	breast:
3	chr15:74909966..74912107-chr15:74947107..74949319,2	K562	blood:

Variant related genes	Relation type
ENSG00000260919	TF binding region
CLK3	TF binding region
ENSG00000178802	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv19858	chr15:74911304-74925497	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74909000-74927000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:74909400-74911800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:74909600-74911800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:74909600-74912000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr15:74909600-74913400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr15:74909800-74911800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:74909800-74912000	Genic enhancers	Fetal Intestine Small	intestine
8	chr15:74909800-74912000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr15:74909800-74912000	Weak transcription	NH-A	brain
10	chr15:74909800-74912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:74909800-74914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:74909800-74914400	Weak transcription	HSMMtube	muscle
13	chr15:74910000-74911800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:74910000-74914000	Genic enhancers	Spleen	Spleen
15	chr15:74910000-74914400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr15:74910000-74917800	Strong transcription	Primary B cells from cord blood	blood
17	chr15:74910000-74931200	Strong transcription	NHLF	lung
18	chr15:74910000-74931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:74910200-74911800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:74910400-74911800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:74910400-74912000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:74910400-74913000	Strong transcription	NHEK	skin
23	chr15:74910400-74913800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:74910400-74913800	Genic enhancers	Colonic Mucosa	Colon
25	chr15:74910400-74914000	Genic enhancers	Adipose Nuclei	Adipose
26	chr15:74910400-74914200	Genic enhancers	Gastric	stomach
27	chr15:74910400-74914400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:74910400-74915000	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr15:74910400-74925600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr15:74910400-74931800	Strong transcription	K562	blood
31	chr15:74910400-74933400	Strong transcription	Rectal Smooth Muscle	rectum
32	chr15:74910600-74913200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:74910600-74913400	Strong transcription	Fetal Stomach	stomach
34	chr15:74910600-74913400	Strong transcription	Fetal Thymus	thymus
35	chr15:74910600-74913600	Genic enhancers	Placenta	Placenta
36	chr15:74910600-74936400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:74910800-74911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:74910800-74912000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:74910800-74912000	Weak transcription	Small Intestine	intestine
40	chr15:74910800-74913000	Strong transcription	Brain Germinal Matrix	brain
41	chr15:74910800-74913600	Genic enhancers	Brain Hippocampus Middle	brain
42	chr15:74910800-74914600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:74910800-74915800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:74910800-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:74910800-74922600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:74910800-74933200	Strong transcription	Fetal Intestine Large	intestine
47	chr15:74910800-74933800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:74910800-74934400	Strong transcription	Thymus	Thymus
49	chr15:74911000-74911800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:74911000-74912200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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