Variant report

Variant	rs148066959
Chromosome Location	chr5:179235450-179235451
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	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	POLR2A	chr5:179234838-179235535	HCT-116	colon:	n/a	n/a
6	RCOR1	chr5:179234864-179235541	HepG2	liver:	n/a	n/a
7	E2F6	chr5:179234851-179235628	A549	lung:	n/a	n/a
8	POLR2A	chr5:179235407-179235598	Hela-S3	cervix:	n/a	n/a
9	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
10	POLR2A	chr5:179234881-179235538	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:179235003-179235469	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:179234952-179235604	PFSK-1	brain:	n/a	n/a
13	FOSL2	chr5:179235279-179235631	A549	lung:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
14	RPC155	chr5:179235287-179235924	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:179235294-179235665	HepG2	liver:	n/a	n/a
16	RFX5	chr5:179235271-179235471	HepG2	liver:	n/a	n/a
17	CEBPB	chr5:179235147-179235631	A549	lung:	n/a	n/a
18	HEY1	chr5:179234831-179235603	HepG2	liver:	n/a	n/a
19	TCF12	chr5:179234797-179235760	A549	lung:	n/a	n/a
20	SP1	chr5:179234768-179235539	A549	lung:	n/a	n/a
21	CEBPB	chr5:179235309-179235636	A549	lung:	n/a	n/a
22	POLR2A	chr5:179233717-179235578	PANC-1	pancreas:	n/a	n/a
23	SMC3	chr5:179235284-179235491	HepG2	liver:	n/a	n/a
24	HEY1	chr5:179234879-179235481	HepG2	liver:	n/a	n/a
25	MAX	chr5:179234861-179235619	A549	lung:	n/a	n/a
26	MAX	chr5:179234842-179235805	A549	lung:	n/a	n/a
27	MYC	chr5:179235330-179235713	MCF10A-Er-Src	breast:	n/a	n/a
28	TBP	chr5:179234830-179235632	HepG2	liver:	n/a	n/a
29	SP1	chr5:179234734-179235693	A549	lung:	n/a	n/a
30	POLR2A	chr5:179231819-179235745	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:179234824-179235527	HepG2	liver:	n/a	n/a
32	REST	chr5:179235126-179235584	A549	lung:	n/a	n/a
33	POLR2A	chr5:179235314-179235535	HepG2	liver:	n/a	n/a
34	JUND	chr5:179235354-179235538	HepG2	liver:	n/a	chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531 chr5:179235521-179235531
35	POLR2A	chr5:179234904-179235466	HepG2	liver:	n/a	n/a
36	TBP	chr5:179235352-179235649	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:120598672..120599438-chr5:179234759..179235474,2	HCT-116	colon:
2	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
3	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
4	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
5	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
6	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
ENSG00000245317	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv3325781	chr5:179232971-179235519	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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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