Variant report

Variant	nsv1021807
Chromosome Location	chr5:113938442-114005137
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	BHLHE40	chr5:113993492-113993685	K562	blood:	n/a	n/a
2	CEBPB	chr5:113993485-113993747	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:113970237-113970569	MCF-7	breast:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
4	CEBPB	chr5:113970220-113970599	A549	lung:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
5	CEBPB	chr5:113970241-113970588	Hela-S3	cervix:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
6	CEBPB	chr5:113970218-113970603	HepG2	liver:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
7	CEBPB	chr5:113993507-113993646	K562	blood:	n/a	n/a
8	CEBPB	chr5:113970317-113970507	A549	lung:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
9	CEBPB	chr5:113966175-113966410	HepG2	liver:	n/a	chr5:113966248-113966260 chr5:113966289-113966300
10	CEBPB	chr5:113970213-113970582	A549	lung:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
11	CEBPB	chr5:113970220-113970587	K562	blood:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
12	CEBPB	chr5:113970223-113970601	IMR90	lung:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
13	CEBPB	chr5:113970217-113970599	H1-hESC	embryonic stem cell:	n/a	chr5:113970406-113970415 chr5:113970404-113970417 chr5:113970406-113970415 chr5:113970404-113970415 chr5:113970406-113970415
14	CEBPB	chr5:113987524-113987814	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:113940757-113940842	MCF-7	breast:	n/a	n/a
16	E2F4	chr5:113958728-113958929	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:113981923-113982100	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr5:113970778-113970967	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:113993589-113993606	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:113993201-113993375	MCF10A-Er-Src	breast:	n/a	chr5:113993262-113993272 chr5:113993263-113993272 chr5:113993262-113993272 chr5:113993261-113993273 chr5:113993262-113993272 chr5:113993259-113993270
21	FOS	chr5:113970727-113970979	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:113970708-113970893	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:113993107-113993387	MCF10A-Er-Src	breast:	n/a	chr5:113993262-113993272 chr5:113993263-113993272 chr5:113993262-113993272 chr5:113993261-113993273 chr5:113993262-113993272 chr5:113993259-113993270
24	FOXA1	chr5:114001300-114001457	T-47D	breast:	n/a	n/a
25	JUN	chr5:114003710-114003783	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr5:113993107-113993371	HepG2	liver:	n/a	chr5:113993262-113993272 chr5:113993263-113993272 chr5:113993262-113993272 chr5:113993261-113993273 chr5:113993261-113993272 chr5:113993262-113993272 chr5:113993259-113993270
27	JUND	chr5:113991987-113992187	HepG2	liver:	n/a	chr5:113992119-113992128 chr5:113992118-113992129 chr5:113992121-113992128
28	JUND	chr5:113993084-113993472	H1-hESC	embryonic stem cell:	n/a	chr5:113993262-113993272 chr5:113993263-113993272 chr5:113993262-113993272 chr5:113993261-113993273 chr5:113993261-113993272 chr5:113993262-113993272 chr5:113993259-113993270
29	KAP1	chr5:113962956-113963509	K562	blood:	n/a	n/a
30	MAFK	chr5:113982426-113982526	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr5:113985576-113985626	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr5:113962850-113962864	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr5:113965630-113965717	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:113955561-113955751	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:113992404-113992457	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr5:113940917-113941117	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:113984378-113984459	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:113987719-113987919	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:113957500-113957621	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr5:114001220-114001349	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:113978323-113978593	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr5:113948128-113948511	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr5:113945229-113945359	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:113993225-113993425	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:113948116-113948391	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr5:113980275-113980411	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr5:113995545-113995685	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr5:113947945-113948806	H1-neurons	neurons:	n/a	n/a
49	REST	chr5:113948073-113948580	H1-neurons	neurons:	n/a	n/a
50	RFX5	chr5:113974520-113974535	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:113985866..113987952-chr5:113988127..113990699,2	K562	blood:
2	chr17:56708890..56709453-chr5:113999791..114000291,2	Hela-S3	cervix:
3	chr5:113985866..113987952-chr5:113988127..113990699,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM36-4	chr5:114004040-114004103	ENSG00000246316.3
2	lnc-TRIM36-4	chr5:113998658-113998922	ENSG00000246316.3
3	lnc-TRIM36-4	chr5:114003306-114003444	ENSG00000246316.3
4	lnc-TRIM36-4	chr5:114003805-114003928	ENSG00000246316.3

Variant related genes	Relation type
ENSG00000246316	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553138180	chr5:113938462-113938463	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183787024	chr5:113938465-113938466	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74965754	chr5:113938468-113938469	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186869760	chr5:113938483-113938484	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541713538	chr5:113938488-113938489	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556860161	chr5:113938497-113938498	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575062867	chr5:113938560-113938561	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545627533	chr5:113938567-113938568	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563819525	chr5:113938579-113938580	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528224539	chr5:113938616-113938617	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370622754	chr5:113938622-113938623	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144989217	chr5:113938623-113938624	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142947576	chr5:113938636-113938637	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140241186	chr5:113938649-113938650	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79234343	chr5:113938660-113938661	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112757459	chr5:113938672-113938673	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146924662	chr5:113938696-113938697	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570769769	chr5:113938708-113938709	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548870549	chr5:113938710-113938711	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570376703	chr5:113938731-113938732	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534763621	chr5:113938741-113938742	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531107990	chr5:113938743-113938744	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552832065	chr5:113938750-113938751	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs115243206	chr5:113938751-113938752	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534845832	chr5:113938757-113938758	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs137939153	chr5:113938796-113938797	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532051388	chr5:113971018-113971019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146857710	chr5:113971039-113971040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376996113	chr5:113971041-113971042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570879816	chr5:113971055-113971056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140269948	chr5:113971056-113971057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542135772	chr5:113971106-113971107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370734731	chr5:113971121-113971122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150324676	chr5:113971134-113971135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375362912	chr5:113971171-113971172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137864909	chr5:113971194-113971195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186817797	chr5:113971209-113971210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564123307	chr5:113971227-113971228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386691328	chr5:113971241-113971242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78818346	chr5:113971242-113971243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547627754	chr5:113971270-113971271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375569442	chr5:113971286-113971287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149455241	chr5:113971312-113971313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548895634	chr5:113971327-113971328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570149741	chr5:113971329-113971330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143052116	chr5:113971331-113971332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558737978	chr5:113971337-113971338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368277348	chr5:113971351-113971352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534813833	chr5:113971367-113971368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552927230	chr5:113971378-113971379	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113938400-113938800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
2	chr5:113971000-113972200	Enhancers	Colon Smooth Muscle	Colon
3	chr5:113980000-113980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:113980400-113981000	Enhancers	Brain Substantia Nigra	brain
5	chr5:113985200-113986200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:113985800-113986200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:113992800-113994800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:113993400-113994200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:113993400-113994800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:113993600-113994000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:113994800-113996800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:113997000-113997200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:114001000-114001600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:114001000-114001800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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