Variant report

Variant	rs56298217
Chromosome Location	chr15:74914649-74914650
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	NRF1	chr15:74914547-74914681	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:74906714-74928682	K562	blood:	n/a	n/a
3	POLR2A	chr15:74914329-74914734	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr15:74912457-74921873	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:74914385-74914786	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:74910294-74921892	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:74914196-74914661	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CLK3	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11853859	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803461	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7497749	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	chr15:74910000-74917800	Strong transcription	Primary B cells from cord blood	blood
3	chr15:74910000-74931200	Strong transcription	NHLF	lung
4	chr15:74910000-74931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:74910400-74915000	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr15:74910400-74925600	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr15:74910400-74931800	Strong transcription	K562	blood
8	chr15:74910400-74933400	Strong transcription	Rectal Smooth Muscle	rectum
9	chr15:74910600-74936400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:74910800-74915800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:74910800-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:74910800-74922600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:74910800-74933200	Strong transcription	Fetal Intestine Large	intestine
14	chr15:74910800-74933800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:74910800-74934400	Strong transcription	Thymus	Thymus
16	chr15:74911000-74915400	Strong transcription	Hela-S3	cervix
17	chr15:74911000-74918200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:74911000-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:74911000-74927600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:74911000-74934200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:74911000-74934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:74911000-74938000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:74911200-74914800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr15:74911200-74916000	Weak transcription	Psoas Muscle	Psoas
25	chr15:74911200-74926400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:74911400-74915400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:74911400-74918600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:74911400-74929600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:74911400-74929800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:74911400-74934800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:74911400-74936800	Strong transcription	Dnd41	blood
32	chr15:74911400-74937400	Strong transcription	Primary T cells from cord blood	blood
33	chr15:74911600-74919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:74911600-74920400	Strong transcription	Osteobl	bone
35	chr15:74911600-74921200	Strong transcription	Fetal Kidney	kidney
36	chr15:74911600-74921600	Strong transcription	HSMM	muscle
37	chr15:74911600-74921800	Strong transcription	HUVEC	blood vessel
38	chr15:74911600-74922600	Strong transcription	NHDF-Ad	bronchial
39	chr15:74911600-74925400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr15:74911600-74926400	Strong transcription	Aorta	Aorta
41	chr15:74911600-74927400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr15:74911600-74928200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:74911600-74928200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:74911600-74933000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:74911600-74933800	Strong transcription	Fetal Lung	lung
46	chr15:74911800-74915600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:74911800-74918400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:74911800-74923200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:74911800-74933200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:74911800-74934200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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