Variant report

Variant	nsv437358
Chromosome Location	chr3:191353259-191371101
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	chr3:191369922-191370232	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:191370057-191370102	K562	blood:	n/a	n/a
3	CTCF	chr3:191365140-191365290	GM12868	blood:	n/a	n/a
4	CTCF	chr3:191359420-191359570	GM12875	blood:	n/a	n/a
5	CTCF	chr3:191359580-191359730	GM12875	blood:	n/a	n/a
6	EP300	chr3:191355521-191355763	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr3:191355234-191355856	SK-N-SH	brain:	n/a	n/a
8	FOS	chr3:191366664-191366981	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:191365157-191365446	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
10	FOS	chr3:191365225-191365389	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
11	FOS	chr3:191366747-191366946	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr3:191365161-191365458	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
13	GATA3	chr3:191355622-191355726	SH-SY5Y	brain:	n/a	chr3:191355679-191355689 chr3:191355681-191355688 chr3:191355681-191355688 chr3:191355676-191355692 chr3:191355681-191355688
14	MAFF	chr3:191365258-191365458	HepG2	liver:	n/a	n/a
15	MAFK	chr3:191365308-191365311	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr3:191365212-191365457	HepG2	liver:	n/a	chr3:191365327-191365342 chr3:191365327-191365343
17	MAFK	chr3:191365180-191365485	HepG2	liver:	n/a	chr3:191365327-191365342 chr3:191365327-191365343
18	MYC	chr3:191364162-191364274	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr3:191371047-191371104	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr3:191362923-191362947	ProgFib	skin:	n/a	n/a
21	POLR2A	chr3:191370557-191370667	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr3:191356502-191356671	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr3:191359705-191359729	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:191362248-191362292	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:191370919-191371267	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr3:191359752-191359762	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:191359737-191359743	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:191368757-191368959	MCF-7	breast:	n/a	n/a
29	POLR2A	chr3:191359772-191359794	MCF-7	breast:	n/a	n/a
30	POLR2A	chr3:191370981-191371241	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr3:191367795-191367901	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:191359929-191359931	MCF-7	breast:	n/a	n/a
33	REST	chr3:191359614-191359813	SK-N-SH	brain:	n/a	n/a
34	REST	chr3:191359512-191360007	MCF-7	breast:	n/a	n/a
35	REST	chr3:191359651-191359785	PFSK-1	brain:	n/a	n/a
36	REST	chr3:191359597-191359887	U87	brain:	n/a	n/a
37	REST	chr3:191359291-191360163	ECC-1	luminal epithelium:	n/a	n/a
38	REST	chr3:191359575-191359863	HepG2	liver:	n/a	n/a
39	REST	chr3:191359532-191359913	PFSK-1	brain:	n/a	n/a
40	REST	chr3:191359593-191359852	K562	blood:	n/a	n/a
41	REST	chr3:191359496-191360061	U87	brain:	n/a	n/a
42	REST	chr3:191359572-191359893	PANC-1	pancreas:	n/a	n/a
43	REST	chr3:191359531-191359911	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr3:191359562-191359979	MCF-7	breast:	n/a	n/a
45	REST	chr3:191359546-191359937	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr3:191359535-191360038	PFSK-1	brain:	n/a	n/a
47	REST	chr3:191359632-191359908	SK-N-SH	brain:	n/a	n/a
48	REST	chr3:191359606-191359858	HepG2	liver:	n/a	n/a
49	REST	chr3:191359545-191359945	SK-N-SH	brain:	n/a	n/a
50	REST	chr3:191359587-191359956	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000201860	TF binding region
ENSG00000200270	TF binding region

Extended variants
information (count: 843 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34432087	chr3:191353259-191353260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397699077	chr3:191353260-191353261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140298270	chr3:191353297-191353298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548021676	chr3:191353340-191353341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567836861	chr3:191353363-191353364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531233799	chr3:191353375-191353376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550948946	chr3:191353397-191353398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564082678	chr3:191353433-191353434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532924400	chr3:191353434-191353435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184554246	chr3:191353450-191353451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567898604	chr3:191353569-191353570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535322162	chr3:191353571-191353572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569578657	chr3:191353593-191353594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538547738	chr3:191353612-191353613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377477029	chr3:191353648-191353649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556643208	chr3:191353650-191353651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533669054	chr3:191353684-191353685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569101504	chr3:191353708-191353709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553555516	chr3:191353763-191353764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538146609	chr3:191353798-191353799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557589882	chr3:191353800-191353801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79124517	chr3:191353910-191353911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539419567	chr3:191353938-191353939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553086366	chr3:191353951-191353952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573279270	chr3:191353997-191353998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542105871	chr3:191353998-191353999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562311500	chr3:191354021-191354022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575710992	chr3:191354028-191354029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544907922	chr3:191354073-191354074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371185876	chr3:191354087-191354088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144157448	chr3:191354132-191354133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187950815	chr3:191354147-191354148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546601379	chr3:191354178-191354179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560327499	chr3:191354192-191354193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147860849	chr3:191354213-191354214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548753401	chr3:191354221-191354222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74797995	chr3:191354225-191354226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61440395	chr3:191354249-191354250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140391218	chr3:191354250-191354251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559205018	chr3:191354312-191354313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557928510	chr3:191354328-191354329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539491054	chr3:191354357-191354358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372998004	chr3:191354362-191354363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576056301	chr3:191354406-191354407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566706341	chr3:191354434-191354435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544913159	chr3:191354465-191354466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555238757	chr3:191354479-191354480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555547897	chr3:191354497-191354498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575066793	chr3:191354556-191354557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544800154	chr3:191354607-191354608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191345400-191361400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:191354000-191355200	Enhancers	Fetal Heart	heart
3	chr3:191361400-191361600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:191361600-191362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:191362000-191362400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:191362200-191374800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr3:191365200-191365800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:191365200-191367000	Enhancers	Stomach Mucosa	stomach
9	chr3:191365800-191366000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:191365800-191366200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:191366000-191367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:191366600-191367400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:191366600-191367600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:191366600-191368000	Enhancers	NHEK	skin
15	chr3:191366800-191368000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:191367600-191367800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:191368400-191369000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:191368600-191369200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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