Variant report

Variant	rs532142577
Chromosome Location	chr17:15467080-15467081
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	chr17:15466126-15467848	GM12892	blood:	n/a	n/a
2	HCFC1	chr17:15466632-15467129	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr17:15467040-15467192	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:15466197-15467487	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr17:15467006-15467229	HCT-116	colon:	n/a	n/a
6	POLR2A	chr17:15466239-15467222	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:15467000-15467194	A549	lung:	n/a	n/a
8	HEY1	chr17:15467018-15467213	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:15466364-15467171	MCF-7	breast:	n/a	n/a
10	EGR1	chr17:15466960-15467228	K562	blood:	n/a	chr17:15467046-15467060 chr17:15467017-15467031 chr17:15467002-15467016 chr17:15467204-15467214 chr17:15467041-15467063
11	POLR2A	chr17:15467002-15467233	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:15466293-15467305	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr17:15466972-15467214	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr17:15466696-15467195	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:15466616-15467213	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr17:15467003-15467308	HepG2	liver:	n/a	n/a
17	HEY1	chr17:15466999-15467262	K562	blood:	n/a	n/a
18	POLR2A	chr17:15466548-15467270	HepG2	liver:	n/a	n/a
19	HEY1	chr17:15466963-15467237	K562	blood:	n/a	n/a
20	TAF1	chr17:15466236-15467269	H1-hESC	embryonic stem cell:	n/a	n/a
21	EGR1	chr17:15466996-15467099	GM12878	blood:	n/a	chr17:15467046-15467060 chr17:15467017-15467031 chr17:15467002-15467016 chr17:15467041-15467063
22	POLR2A	chr17:15467000-15467189	ECC-1	luminal epithelium:	n/a	n/a
23	EGR1	chr17:15467001-15467114	GM12878	blood:	n/a	chr17:15467046-15467060 chr17:15467017-15467031 chr17:15467002-15467016 chr17:15467041-15467063
24	SP1	chr17:15466590-15467302	HepG2	liver:	n/a	chr17:15467049-15467061 chr17:15467205-15467214
25	EGR1	chr17:15466971-15467212	K562	blood:	n/a	chr17:15467046-15467060 chr17:15467017-15467031 chr17:15467002-15467016 chr17:15467041-15467063
26	IRF1	chr17:15467072-15467209	K562	blood:	n/a	chr17:15467074-15467084 chr17:15467073-15467090
27	POLR2A	chr17:15466346-15467350	U87	brain:	n/a	n/a
28	POU2F2	chr17:15466398-15467353	GM12878	blood:	n/a	chr17:15467157-15467167 chr17:15467154-15467169 chr17:15467201-15467213 chr17:15467157-15467166 chr17:15467158-15467165 chr17:15466734-15466746 chr17:15466659-15466671 chr17:15467157-15467167
29	POLR2A	chr17:15467008-15467179	HCT-116	colon:	n/a	n/a
30	MXI1	chr17:15466545-15467130	HepG2	liver:	n/a	n/a
31	POLR2A	chr17:15466635-15467218	MCF10A-Er-Src	breast:	n/a	n/a
32	REST	chr17:15466370-15467194	SK-N-SH	brain:	n/a	chr17:15467054-15467067
33	POLR2A	chr17:15466984-15467206	HepG2	liver:	n/a	n/a
34	POLR2A	chr17:15467005-15467184	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr17:15466412-15467286	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr17:15466245-15467222	MCF-7	breast:	n/a	n/a
37	SP1	chr17:15466394-15467302	A549	lung:	n/a	chr17:15467049-15467061 chr17:15467205-15467214
38	POLR2A	chr17:15466998-15467221	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:15465745-15467276	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:15466293-15467157	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:15467009-15467270	U87	brain:	n/a	n/a
42	MAZ	chr17:15466631-15467260	IMR90	lung:	n/a	n/a
43	POLR2A	chr17:15466987-15467161	A549	lung:	n/a	n/a
44	FOSL2	chr17:15466268-15467202	HepG2	liver:	n/a	chr17:15466630-15466639
45	MXI1	chr17:15466291-15467143	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr17:15466562-15467266	HEK293	kidney:	n/a	n/a
47	MAZ	chr17:15466660-15467191	K562	blood:	n/a	n/a
48	POLR2A	chr17:15467018-15467276	GM12878	blood:	n/a	n/a
49	POLR2A	chr17:15466191-15467156	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:15466607-15467271	K562	blood:	n/a	n/a

Variant related genes	Relation type
TVP23C	TF binding region
TVP23C-CDRT4	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv3338046	chr17:15466577-15467725	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15465200-15467400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:15465400-15467200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:15465400-15467400	Active TSS	HepG2	liver
4	chr17:15465400-15467600	Active TSS	Muscle Satellite Cultured Cells	--
5	chr17:15465400-15467600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:15465400-15467800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:15465600-15467400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr17:15465600-15467400	Active TSS	Hela-S3	cervix
9	chr17:15465600-15467600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:15465600-15467800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr17:15465600-15467800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:15465800-15467200	Active TSS	HMEC	breast
13	chr17:15465800-15467400	Active TSS	HUVEC	blood vessel
14	chr17:15465800-15467600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:15465800-15467600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:15465800-15467600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr17:15465800-15467600	Active TSS	Fetal Intestine Small	intestine
18	chr17:15466000-15467200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr17:15466000-15467200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:15466000-15467200	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:15466000-15467200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:15466000-15467200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:15466000-15467200	Active TSS	Brain Angular Gyrus	brain
24	chr17:15466000-15467200	Active TSS	Brain Cingulate Gyrus	brain
25	chr17:15466000-15467200	Active TSS	Dnd41	blood
26	chr17:15466000-15467200	Active TSS	HSMM	muscle
27	chr17:15466000-15467200	Active TSS	HSMMtube	muscle
28	chr17:15466000-15467200	Active TSS	NHDF-Ad	bronchial
29	chr17:15466000-15467400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr17:15466000-15467400	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr17:15466000-15467400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:15466000-15467400	Active TSS	Brain Germinal Matrix	brain
33	chr17:15466000-15467400	Active TSS	Fetal Intestine Large	intestine
34	chr17:15466000-15467400	Active TSS	Fetal Muscle Trunk	muscle
35	chr17:15466000-15467400	Active TSS	Fetal Stomach	stomach
36	chr17:15466000-15467400	Active TSS	A549	lung
37	chr17:15466000-15467400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr17:15466000-15467400	Active TSS	NH-A	brain
39	chr17:15466000-15467400	Active TSS	NHEK	skin
40	chr17:15466000-15467600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:15466000-15467600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:15466000-15467600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:15466000-15467600	Active TSS	Liver	Liver
44	chr17:15466000-15467600	Active TSS	Brain Anterior Caudate	brain
45	chr17:15466000-15467600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr17:15466000-15467600	Active TSS	Fetal Brain Female	brain
47	chr17:15466000-15467600	Active TSS	Osteobl	bone
48	chr17:15466000-15467800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr17:15466000-15467800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr17:15466000-15467800	Active TSS	Skeletal Muscle Female	skeletal muscle

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