Variant report

Variant	nsv878813
Chromosome Location	chr4:31295133-31364659
allele	n/a
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	chr4:31327083-31327302	K562	blood:	n/a	chr4:31327113-31327126 chr4:31327115-31327124 chr4:31327115-31327126 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327158-31327169 chr4:31327113-31327124
2	CEBPB	chr4:31362438-31362848	Hela-S3	cervix:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
3	CEBPB	chr4:31362507-31362846	K562	blood:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
4	CEBPB	chr4:31352065-31352346	K562	blood:	n/a	n/a
5	CEBPB	chr4:31362470-31362824	A549	lung:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
6	CEBPB	chr4:31326948-31327303	A549	lung:	n/a	chr4:31327113-31327126 chr4:31327115-31327124 chr4:31327115-31327126 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327158-31327169 chr4:31327113-31327124
7	CEBPB	chr4:31362498-31362768	H1-hESC	embryonic stem cell:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
8	CEBPB	chr4:31325409-31325661	HepG2	liver:	n/a	chr4:31325531-31325542
9	CEBPB	chr4:31362467-31362847	IMR90	lung:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
10	CEBPB	chr4:31326939-31327289	HepG2	liver:	n/a	chr4:31327113-31327126 chr4:31327115-31327124 chr4:31327115-31327126 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327158-31327169 chr4:31327113-31327124
11	CEBPB	chr4:31362480-31362849	HepG2	liver:	n/a	chr4:31362653-31362664 chr4:31362651-31362664 chr4:31362653-31362662 chr4:31362651-31362662 chr4:31362653-31362662 chr4:31362653-31362662 chr4:31362651-31362664 chr4:31362653-31362662
12	CEBPB	chr4:31326960-31327297	IMR90	lung:	n/a	chr4:31327113-31327126 chr4:31327115-31327124 chr4:31327115-31327126 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327115-31327124 chr4:31327158-31327169 chr4:31327113-31327124
13	CTCF	chr4:31330620-31330770	HMEC	breast:	n/a	n/a
14	CTCF	chr4:31327955-31328018	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr4:31317740-31317890	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:31359740-31359890	WI-38	lung:	n/a	n/a
17	CTCF	chr4:31343680-31343830	HRE	kidney:	n/a	n/a
18	E2F4	chr4:31325496-31325524	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr4:31348334-31348543	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr4:31343161-31343638	T-47D	breast:	n/a	n/a
21	EP300	chr4:31351606-31351897	K562	blood:	n/a	n/a
22	EP300	chr4:31362489-31362786	Hela-S3	cervix:	n/a	chr4:31362593-31362607
23	EP300	chr4:31343266-31343550	T-47D	breast:	n/a	n/a
24	EP300	chr4:31362384-31362677	SK-N-SH_RA	brain:	n/a	chr4:31362593-31362607
25	EP300	chr4:31296175-31296901	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr4:31362361-31362721	SK-N-SH_RA	brain:	n/a	chr4:31362593-31362607
27	EP300	chr4:31295992-31297089	SK-N-SH	brain:	n/a	n/a
28	EP300	chr4:31296179-31296954	SK-N-SH_RA	brain:	n/a	n/a
29	FOS	chr4:31347607-31347804	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr4:31362524-31362724	MCF10A-Er-Src	breast:	n/a	chr4:31362576-31362586 chr4:31362575-31362587 chr4:31362576-31362586
31	FOS	chr4:31362506-31362727	MCF10A-Er-Src	breast:	n/a	chr4:31362576-31362586 chr4:31362575-31362587 chr4:31362576-31362586
32	FOS	chr4:31362556-31362650	MCF10A-Er-Src	breast:	n/a	chr4:31362576-31362586 chr4:31362575-31362587 chr4:31362576-31362586
33	FOS	chr4:31315357-31315558	MCF10A-Er-Src	breast:	n/a	chr4:31315492-31315504 chr4:31315495-31315502 chr4:31315494-31315502 chr4:31315494-31315503 chr4:31315493-31315503
34	FOS	chr4:31362485-31362759	MCF10A-Er-Src	breast:	n/a	chr4:31362728-31362737 chr4:31362576-31362586 chr4:31362575-31362587 chr4:31362576-31362586
35	FOXA1	chr4:31343195-31344063	T-47D	breast:	n/a	n/a
36	FOXA1	chr4:31335716-31335937	T-47D	breast:	n/a	chr4:31335922-31335934 chr4:31335820-31335832
37	FOXA1	chr4:31343211-31343968	T-47D	breast:	n/a	n/a
38	FOXA1	chr4:31335739-31335988	T-47D	breast:	n/a	chr4:31335922-31335934 chr4:31335820-31335832
39	GATA1	chr4:31350775-31352454	PBDE	blood:	n/a	chr4:31351213-31351220
40	GATA2	chr4:31362361-31362663	SH-SY5Y	brain:	n/a	chr4:31362580-31362587 chr4:31362413-31362422
41	GATA2	chr4:31296070-31297032	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr4:31343194-31343602	T-47D	breast:	n/a	n/a
43	GATA3	chr4:31335524-31336139	MCF-7	breast:	n/a	chr4:31335968-31335976
44	GATA3	chr4:31343193-31343597	T-47D	breast:	n/a	n/a
45	GATA3	chr4:31296263-31296648	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr4:31314270-31314495	T-47D	breast:	n/a	n/a
47	GATA3	chr4:31296105-31296987	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr4:31296205-31296814	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr4:31335594-31335992	MCF-7	breast:	n/a	chr4:31335968-31335976
50	GATA3	chr4:31362191-31362597	SH-SY5Y	brain:	n/a	chr4:31362580-31362587 chr4:31362413-31362422

No.	Distal block	Cell Line	Cell type
1	chr4:31326388..31329262-chr4:31496797..31498468,2	MCF-7	breast:
2	chr4:31291357..31294255-chr4:31297514..31299049,2	K562	blood:
3	chr4:31339822..31342463-chr4:31346076..31348918,2	K562	blood:
4	chr4:31339822..31342463-chr4:31346076..31348918,2	K562	blood:
5	chr4:31362529..31364338-chr4:31370364..31372066,2	MCF-7	breast:
6	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
7	chr4:31330725..31333441-chr4:31335577..31337428,2	K562	blood:
8	chr4:31330725..31333441-chr4:31335577..31337428,2	K562	blood:
9	chr4:31285175..31286718-chr4:31345844..31348786,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH7-2	chr4:31351736-31351973	NONHSAT095942
2	lnc-PCDH7-2	chr4:31351906-31351973	XLOC_003494
3	lnc-PCDH7-2	chr4:31352813-31353791	NONHSAT095942
4	lnc-PCDH7-2	chr4:31352814-31353347	XLOC_003494

Variant related genes	Relation type
ENSG00000251434	TF binding region

Extended variants
information (count: 937 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565302632	chr4:31296214-31296215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532777120	chr4:31296231-31296232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184188312	chr4:31296250-31296251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548038801	chr4:31296273-31296274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145754137	chr4:31296297-31296298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28667195	chr4:31296355-31296356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548698904	chr4:31296397-31296398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567255880	chr4:31296472-31296473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187526578	chr4:31296540-31296541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189893855	chr4:31296565-31296566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138450633	chr4:31296568-31296569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182492328	chr4:31296591-31296592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59805890	chr4:31296594-31296595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114773975	chr4:31296598-31296599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536352799	chr4:31296608-31296609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554628967	chr4:31296612-31296613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576401845	chr4:31296652-31296653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116709699	chr4:31296661-31296662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114607028	chr4:31296669-31296670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186859862	chr4:31296698-31296699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143037791	chr4:31296747-31296748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560034478	chr4:31296774-31296775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191680869	chr4:31296785-31296786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549070090	chr4:31296855-31296856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570443510	chr4:31296888-31296889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146163008	chr4:31296918-31296919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140001253	chr4:31296919-31296920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549538811	chr4:31296965-31296966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185049735	chr4:31296997-31296998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188712339	chr4:31297031-31297032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547145227	chr4:31297095-31297096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149342567	chr4:31297098-31297099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529789806	chr4:31297151-31297152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6831722	chr4:31297164-31297165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555070409	chr4:31297175-31297176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7675010	chr4:31297189-31297190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374048554	chr4:31297207-31297208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193066982	chr4:31297208-31297209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577609112	chr4:31297243-31297244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148522790	chr4:31297250-31297251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568975727	chr4:31297373-31297374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185880574	chr4:31297437-31297438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145487625	chr4:31297445-31297446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537932115	chr4:31297501-31297502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7699708	chr4:31297523-31297524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74532105	chr4:31297524-31297525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188258501	chr4:31297531-31297532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7699876	chr4:31297549-31297550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531337755	chr4:31297555-31297556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534516939	chr4:31297610-31297611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31296200-31296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:31296600-31302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:31302200-31303800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:31302400-31302600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:31308400-31308800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:31311400-31312400	Enhancers	Ovary	ovary
7	chr4:31312000-31312400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:31317600-31318400	Enhancers	Fetal Heart	heart
9	chr4:31326600-31327800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:31331000-31331800	Enhancers	Fetal Brain Male	brain
11	chr4:31333200-31333800	Enhancers	Brain Substantia Nigra	brain
12	chr4:31335400-31335800	Enhancers	Hela-S3	cervix
13	chr4:31335400-31336000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:31337000-31337400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:31337000-31337600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:31337000-31338000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:31340400-31341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:31351200-31351800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:31351400-31352000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:31351600-31352000	Enhancers	Colonic Mucosa	Colon
21	chr4:31351800-31352400	Enhancers	Stomach Mucosa	stomach
22	chr4:31351800-31352400	Active TSS	K562	blood
23	chr4:31353400-31354200	Active TSS	K562	blood
24	chr4:31362000-31363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:31362000-31363400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:31362200-31362800	Enhancers	Adipose Nuclei	Adipose
27	chr4:31363000-31364000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:31363400-31363800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:31363800-31364800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:31364000-31364600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:31364600-31367800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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