Variant report

Variant	rs538926493
Chromosome Location	chr5:179235567-179235568
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	CEBPB	chr5:179235340-179235643	Hela-S3	cervix:	n/a	n/a
2	FOS	chr5:179235433-179235650	MCF10A-Er-Src	breast:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
3	POLR2A	chr5:179234695-179235622	PANC-1	pancreas:	n/a	n/a
4	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
5	FOS	chr5:179235498-179235701	MCF10A-Er-Src	breast:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
6	E2F6	chr5:179234851-179235628	A549	lung:	n/a	n/a
7	POLR2A	chr5:179235407-179235598	Hela-S3	cervix:	n/a	n/a
8	FOS	chr5:179235487-179235687	MCF10A-Er-Src	breast:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
9	POLR2A	chr5:179234952-179235604	PFSK-1	brain:	n/a	n/a
10	FOS	chr5:179235489-179235623	MCF10A-Er-Src	breast:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
11	FOSL2	chr5:179235279-179235631	A549	lung:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
12	RPC155	chr5:179235287-179235924	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:179235294-179235665	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:179235147-179235631	A549	lung:	n/a	n/a
15	HEY1	chr5:179234831-179235603	HepG2	liver:	n/a	n/a
16	TCF12	chr5:179234797-179235760	A549	lung:	n/a	n/a
17	CEBPB	chr5:179235309-179235636	A549	lung:	n/a	n/a
18	POLR2A	chr5:179233717-179235578	PANC-1	pancreas:	n/a	n/a
19	MAX	chr5:179234861-179235619	A549	lung:	n/a	n/a
20	MAX	chr5:179234842-179235805	A549	lung:	n/a	n/a
21	MYC	chr5:179235330-179235713	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr5:179234830-179235632	HepG2	liver:	n/a	n/a
23	SP1	chr5:179234734-179235693	A549	lung:	n/a	n/a
24	POLR2A	chr5:179231819-179235745	HepG2	liver:	n/a	n/a
25	REST	chr5:179235126-179235584	A549	lung:	n/a	n/a
26	TBP	chr5:179235352-179235649	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
2	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
3	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:

Variant related genes	Relation type
MGAT4B	TF binding region
SQSTM1	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
11	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
13	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
14	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
15	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
16	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3403342	chr5:179231746-179236044	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv988291	chr5:179233076-179240737	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
20	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers 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 miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179232800-179235600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:179234400-179235600	Enhancers	Stomach Mucosa	stomach
4	chr5:179234400-179243800	Weak transcription	Aorta	Aorta
5	chr5:179234600-179235800	Enhancers	Primary B cells from cord blood	blood
6	chr5:179234600-179236600	Weak transcription	Small Intestine	intestine
7	chr5:179234600-179238000	Weak transcription	Fetal Stomach	stomach
8	chr5:179234600-179238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179234600-179238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:179234600-179238400	Weak transcription	K562	blood
11	chr5:179234600-179239000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:179234600-179239200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179234600-179239200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:179234600-179239200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:179234600-179239200	Weak transcription	Ovary	ovary
16	chr5:179234600-179239200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:179234600-179239200	Weak transcription	NHLF	lung
18	chr5:179234600-179239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:179234600-179239400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:179234600-179241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:179234600-179241000	Weak transcription	Fetal Lung	lung
22	chr5:179234600-179241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:179234600-179242800	Weak transcription	Esophagus	oesophagus
24	chr5:179234600-179242800	Weak transcription	Gastric	stomach
25	chr5:179234600-179243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:179234600-179243600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:179234600-179243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:179234600-179243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:179234600-179244000	Weak transcription	NHDF-Ad	bronchial
30	chr5:179234600-179244200	Weak transcription	NHEK	skin
31	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
32	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
33	chr5:179234800-179235600	Enhancers	Fetal Brain Male	brain
34	chr5:179234800-179235600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:179234800-179235600	Flanking Active TSS	Hela-S3	cervix
36	chr5:179234800-179237800	Weak transcription	Fetal Thymus	thymus
37	chr5:179234800-179238600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:179234800-179238600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:179234800-179238600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:179234800-179239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:179234800-179239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:179234800-179239200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:179234800-179239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:179234800-179239400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:179234800-179239400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:179234800-179243600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:179234800-179243600	Weak transcription	Brain Angular Gyrus	brain
48	chr5:179234800-179243600	Weak transcription	Osteobl	bone
49	chr5:179235000-179235600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:179235000-179239200	Weak transcription	Stomach Smooth Muscle	stomach

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