Variant report

Variant	rs540724440
Chromosome Location	chr15:74912247-74912248
allele	A/C
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	POLR2A	chr15:74912217-74912744	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:74912212-74914155	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:74912219-74912958	HL-60	blood:	n/a	n/a
5	POLR2A	chr15:74911959-74912421	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:74912079-74914154	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:74911684-74914010	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:74910294-74921892	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74911034..74913432-chr15:75186630..75189281,2	MCF-7	breast:
2	chr15:74909806..74912416-chr15:75659270..75660874,2	MCF-7	breast:

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000260919	TF binding region
ENSG00000140400	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000178802	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	chr15:74909600-74913400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr15:74909800-74912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:74909800-74914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:74909800-74914400	Weak transcription	HSMMtube	muscle
6	chr15:74910000-74914000	Genic enhancers	Spleen	Spleen
7	chr15:74910000-74914400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:74910000-74917800	Strong transcription	Primary B cells from cord blood	blood
9	chr15:74910000-74931200	Strong transcription	NHLF	lung
10	chr15:74910000-74931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:74910400-74913000	Strong transcription	NHEK	skin
12	chr15:74910400-74913800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:74910400-74913800	Genic enhancers	Colonic Mucosa	Colon
14	chr15:74910400-74914000	Genic enhancers	Adipose Nuclei	Adipose
15	chr15:74910400-74914200	Genic enhancers	Gastric	stomach
16	chr15:74910400-74914400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:74910400-74915000	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr15:74910400-74925600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr15:74910400-74931800	Strong transcription	K562	blood
20	chr15:74910400-74933400	Strong transcription	Rectal Smooth Muscle	rectum
21	chr15:74910600-74913200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:74910600-74913400	Strong transcription	Fetal Stomach	stomach
23	chr15:74910600-74913400	Strong transcription	Fetal Thymus	thymus
24	chr15:74910600-74913600	Genic enhancers	Placenta	Placenta
25	chr15:74910600-74936400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:74910800-74913000	Strong transcription	Brain Germinal Matrix	brain
27	chr15:74910800-74913600	Genic enhancers	Brain Hippocampus Middle	brain
28	chr15:74910800-74914600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:74910800-74915800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr15:74910800-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:74910800-74922600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:74910800-74933200	Strong transcription	Fetal Intestine Large	intestine
33	chr15:74910800-74933800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:74910800-74934400	Strong transcription	Thymus	Thymus
35	chr15:74911000-74912600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:74911000-74913000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:74911000-74913000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr15:74911000-74913400	Strong transcription	Ovary	ovary
39	chr15:74911000-74913800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:74911000-74914200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr15:74911000-74914600	Genic enhancers	Esophagus	oesophagus
42	chr15:74911000-74915400	Strong transcription	Hela-S3	cervix
43	chr15:74911000-74918200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:74911000-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:74911000-74927600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:74911000-74934200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:74911000-74934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:74911000-74938000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr15:74911200-74912400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:74911200-74912600	Weak transcription	Fetal Brain Male	brain

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