Variant report

Variant	nsv437356
Chromosome Location	chr3:191348911-191371101
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	chr3:191349962-191350121	K562	blood:	n/a	n/a
2	CEBPB	chr3:191370057-191370102	K562	blood:	n/a	n/a
3	CEBPB	chr3:191369922-191370232	IMR90	lung:	n/a	n/a
4	CTCF	chr3:191365140-191365290	GM12868	blood:	n/a	n/a
5	CTCF	chr3:191359580-191359730	GM12875	blood:	n/a	n/a
6	CTCF	chr3:191359420-191359570	GM12875	blood:	n/a	n/a
7	EP300	chr3:191355234-191355856	SK-N-SH	brain:	n/a	n/a
8	EP300	chr3:191355521-191355763	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr3:191366664-191366981	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr3:191365157-191365446	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
11	FOS	chr3:191365225-191365389	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
12	FOS	chr3:191365161-191365458	MCF10A-Er-Src	breast:	n/a	chr3:191365318-191365326
13	FOS	chr3:191366747-191366946	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr3:191355622-191355726	SH-SY5Y	brain:	n/a	chr3:191355679-191355689 chr3:191355681-191355688 chr3:191355681-191355688 chr3:191355676-191355692 chr3:191355681-191355688
15	MAFF	chr3:191365258-191365458	HepG2	liver:	n/a	n/a
16	MAFK	chr3:191365212-191365457	HepG2	liver:	n/a	chr3:191365327-191365342 chr3:191365327-191365343
17	MAFK	chr3:191365308-191365311	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr3:191365180-191365485	HepG2	liver:	n/a	chr3:191365327-191365342 chr3:191365327-191365343
19	MYC	chr3:191364162-191364274	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr3:191352597-191353188	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr3:191356502-191356671	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr3:191359705-191359729	MCF-7	breast:	n/a	n/a
23	POLR2A	chr3:191368757-191368959	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:191362923-191362947	ProgFib	skin:	n/a	n/a
25	POLR2A	chr3:191359772-191359794	MCF-7	breast:	n/a	n/a
26	POLR2A	chr3:191371047-191371104	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:191352156-191352172	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr3:191370557-191370667	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr3:191362248-191362292	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr3:191359929-191359931	MCF-7	breast:	n/a	n/a
31	POLR2A	chr3:191370981-191371241	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr3:191367795-191367901	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:191352667-191353120	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr3:191359752-191359762	MCF-7	breast:	n/a	n/a
35	POLR2A	chr3:191359737-191359743	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:191370919-191371267	H1-neurons	neurons:	n/a	n/a
37	REST	chr3:191359572-191359893	PANC-1	pancreas:	n/a	n/a
38	REST	chr3:191359593-191359852	K562	blood:	n/a	n/a
39	REST	chr3:191359647-191359816	HepG2	liver:	n/a	n/a
40	REST	chr3:191359520-191360008	PANC-1	pancreas:	n/a	n/a
41	REST	chr3:191359568-191359898	Hela-S3	cervix:	n/a	n/a
42	REST	chr3:191359546-191359909	GM12878	blood:	n/a	n/a
43	REST	chr3:191359496-191360061	U87	brain:	n/a	n/a
44	REST	chr3:191359632-191359908	SK-N-SH	brain:	n/a	n/a
45	REST	chr3:191359291-191360163	ECC-1	luminal epithelium:	n/a	n/a
46	REST	chr3:191352660-191353180	H1-neurons	neurons:	n/a	n/a
47	REST	chr3:191359597-191359887	U87	brain:	n/a	n/a
48	REST	chr3:191359587-191359956	HL-60	blood:	n/a	n/a
49	REST	chr3:191359496-191360063	U87	brain:	n/a	n/a
50	REST	chr3:191359535-191360038	PFSK-1	brain:	n/a	n/a

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

Extended variants
information (count: 1024 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1024 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7624169	chr3:191348911-191348912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142903264	chr3:191349029-191349030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189004460	chr3:191349030-191349031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534427105	chr3:191349136-191349137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77280917	chr3:191349175-191349176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570789853	chr3:191349182-191349183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528417981	chr3:191349256-191349257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545360716	chr3:191349266-191349267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574430550	chr3:191349288-191349289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546982921	chr3:191349303-191349304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567332502	chr3:191349304-191349305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373876425	chr3:191349327-191349328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543317911	chr3:191349354-191349355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150756565	chr3:191349366-191349367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576012849	chr3:191349369-191349370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544659939	chr3:191349375-191349376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372795457	chr3:191349457-191349458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527377790	chr3:191349525-191349526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182400562	chr3:191349526-191349527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536251069	chr3:191349552-191349553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568372372	chr3:191349574-191349575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369724920	chr3:191349580-191349581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13088741	chr3:191349589-191349590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557222972	chr3:191349607-191349608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561324127	chr3:191349663-191349664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369725099	chr3:191349673-191349674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530122644	chr3:191349674-191349675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149886628	chr3:191349677-191349678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542143758	chr3:191349692-191349693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569426646	chr3:191349697-191349698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62289094	chr3:191349704-191349705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs58284414	chr3:191349715-191349716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573163701	chr3:191349729-191349730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531756854	chr3:191349742-191349743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118150015	chr3:191349770-191349771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79560382	chr3:191349806-191349807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74747637	chr3:191349832-191349833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574396519	chr3:191349853-191349854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554268951	chr3:191349875-191349876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147557515	chr3:191349881-191349882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541898705	chr3:191349896-191349897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141923828	chr3:191349897-191349898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530712099	chr3:191349910-191349911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188994480	chr3:191349915-191349916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181486176	chr3:191349957-191349958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13071277	chr3:191350030-191350031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144536206	chr3:191350079-191350080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138573642	chr3:191350120-191350121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571661502	chr3:191350131-191350132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57827079	chr3:191350138-191350139	Weak transcription	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191345400-191352600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:191345400-191361400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:191348400-191349200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:191348600-191350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:191348800-191349000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr3:191348800-191350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:191349000-191349800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:191349200-191349800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:191352600-191353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:191354000-191355200	Enhancers	Fetal Heart	heart
11	chr3:191361400-191361600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:191361600-191362200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:191362000-191362400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:191362200-191374800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr3:191365200-191365800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:191365200-191367000	Enhancers	Stomach Mucosa	stomach
17	chr3:191365800-191366000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:191365800-191366200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:191366000-191367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:191366600-191367400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:191366600-191367600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:191366600-191368000	Enhancers	NHEK	skin
23	chr3:191366800-191368000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:191367600-191367800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:191368400-191369000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:191368600-191369200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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