Variant report

Variant	nsv3061
Chromosome Location	chr2:180057194-180095718
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	ARID3A	chr2:180058459-180058657	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:180083747-180084075	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:180083737-180084043	GM12878	blood:	n/a	n/a
4	CBX3	chr2:180066654-180066871	HCT-116	colon:	n/a	n/a
5	CEBPB	chr2:180084345-180084639	Hela-S3	cervix:	n/a	chr2:180084484-180084497
6	CEBPB	chr2:180093054-180093268	IMR90	lung:	n/a	chr2:180093164-180093175
7	CEBPB	chr2:180058459-180058796	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:180092939-180093247	A549	lung:	n/a	chr2:180093164-180093175
9	CEBPB	chr2:180093015-180093346	HepG2	liver:	n/a	chr2:180093164-180093175
10	CEBPZ	chr2:180066713-180066874	HepG2	liver:	n/a	n/a
11	CHD1	chr2:180059593-180059605	GM12878	blood:	n/a	n/a
12	CHD2	chr2:180093180-180093189	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr2:180092555-180092590	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr2:180083774-180084056	GM12878	blood:	n/a	n/a
15	CTCF	chr2:180083840-180083990	HRE	kidney:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
16	CTCF	chr2:180058560-180058710	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:180083743-180084046	Gliobla	brain:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
18	CTCF	chr2:180083739-180084055	GM12878	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
19	CTCF	chr2:180083578-180084152	GM12878	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
20	CTCF	chr2:180058560-180058710	HepG2	liver:	n/a	n/a
21	CTCF	chr2:180083840-180083990	GM12871	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
22	CTCF	chr2:180083820-180083970	GM12869	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
23	CTCF	chr2:180083840-180083990	GM12875	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
24	CTCF	chr2:180083698-180084135	K562	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
25	CTCF	chr2:180058520-180058670	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr2:180083840-180083990	HCPEpiC	choroid plexus:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
27	CTCF	chr2:180083682-180084054	A549	lung:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
28	CTCF	chr2:180083800-180083950	GM12866	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
29	CTCF	chr2:180083776-180083985	MCF-7	breast:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
30	CTCF	chr2:180083820-180083970	HPF	lung:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
31	CTCF	chr2:180083800-180083950	HUVEC	blood vessel:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
32	CTCF	chr2:180083820-180083970	HVMF	connective:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
33	CTCF	chr2:180083860-180084010	AG09319	gingival:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
34	CTCF	chr2:180083800-180083950	SK-N-SH_RA	brain:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
35	CTCF	chr2:180083720-180083870	WI-38	lung:	n/a	n/a
36	CTCF	chr2:180083820-180083970	AG04450	lung:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
37	CTCF	chr2:180083791-180084198	MCF-7	breast:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
38	CTCF	chr2:180083820-180083970	HRE	kidney:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
39	CTCF	chr2:180083769-180084050	HUVEC	blood vessel:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
40	CTCF	chr2:180083820-180083970	HRPEpiC	eye:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
41	CTCF	chr2:180058480-180058630	GM12872	blood:	n/a	n/a
42	CTCF	chr2:180083820-180083970	HUVEC	blood vessel:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
43	CTCF	chr2:180083820-180083970	GM12864	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
44	CTCF	chr2:180083920-180084070	HCM	heart:	n/a	n/a
45	CTCF	chr2:180083764-180084026	NHEK	skin:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
46	CTCF	chr2:180083820-180083970	SK-N-SH_RA	brain:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
47	CTCF	chr2:180083780-180083930	GM12874	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
48	CTCF	chr2:180083820-180083970	HAc	cerebellar:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
49	CTCF	chr2:180083840-180083990	NB4	blood:	n/a	chr2:180083902-180083923 chr2:180083900-180083918
50	CTCF	chr2:180083820-180083970	AG09319	gingival:	n/a	chr2:180083902-180083923 chr2:180083900-180083918

No.	Distal block	Cell Line	Cell type
1	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
2	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
3	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
4	chr2:180083391..180084449-chr2:180205175..180206192,5	MCF-7	breast:
5	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
6	chr2:180083493..180084369-chr2:180219016..180219973,3	MCF-7	breast:
7	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
8	chr2:180083456..180084009-chr2:180615655..180616482,2	MCF-7	breast:
9	chr2:180083839..180084369-chr2:180763413..180764243,2	K562	blood:
10	chr2:180091710..180093707-chr2:180097296..180099649,3	MCF-7	breast:
11	chr2:180091158..180092678-chr2:180127658..180130558,2	MCF-7	breast:
12	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
13	chr2:180083424..180084063-chr2:180275340..180276272,2	MCF-7	breast:
14	chr2:180083866..180084412-chr2:180305093..180305735,3	K562	blood:
15	chr2:180039372..180041323-chr2:180056705..180058266,2	MCF-7	breast:
16	chr2:180083560..180084369-chr2:180205061..180206359,5	MCF-7	breast:
17	chr2:180091649..180092168-chr20:53297444..53298069,2	MCF-7	breast:

Variant related genes	Relation type
SESTD1	TF binding region
ENSG00000187231	chromatin interactions

Extended variants
information (count: 1458 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1458 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10497535	chr2:180057207-180057208	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536217295	chr2:180057217-180057218	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546991330	chr2:180057246-180057247	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77916674	chr2:180057260-180057261	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181830915	chr2:180057312-180057313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559132416	chr2:180057316-180057317	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577911017	chr2:180057333-180057334	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143927916	chr2:180057346-180057347	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs151009367	chr2:180057390-180057391	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557279593	chr2:180057421-180057422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77085942	chr2:180057449-180057450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147291454	chr2:180057520-180057521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559305274	chr2:180057537-180057538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572810907	chr2:180057547-180057548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545078178	chr2:180057578-180057579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140937039	chr2:180057626-180057627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185981561	chr2:180057636-180057637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572301116	chr2:180057638-180057639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188835333	chr2:180057667-180057668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544417116	chr2:180057737-180057738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561217517	chr2:180057821-180057822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181459749	chr2:180057824-180057825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186200562	chr2:180057827-180057828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58092815	chr2:180057890-180057891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541332420	chr2:180057930-180057931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115824907	chr2:180057948-180057949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532445280	chr2:180057970-180057971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552684855	chr2:180057998-180057999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569411068	chr2:180058002-180058003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537209824	chr2:180058025-180058026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557218132	chr2:180058038-180058039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17454458	chr2:180058043-180058044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144879655	chr2:180058061-180058062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553033653	chr2:180058065-180058066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528797371	chr2:180058085-180058086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572794223	chr2:180058094-180058095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544638995	chr2:180058098-180058099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558195176	chr2:180058104-180058105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575015688	chr2:180058107-180058108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546949446	chr2:180058112-180058113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544350396	chr2:180058117-180058118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543359762	chr2:180058172-180058173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370932797	chr2:180058212-180058213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374006524	chr2:180058225-180058226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145864654	chr2:180058268-180058269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114873504	chr2:180058270-180058271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191053227	chr2:180058276-180058277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148596547	chr2:180058290-180058291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552621366	chr2:180058312-180058313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569348339	chr2:180058342-180058343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
2	chr2:180015000-180060600	Weak transcription	Lung	lung
3	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
4	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
8	chr2:180041200-180058800	Weak transcription	Ovary	ovary
9	chr2:180043600-180058800	Weak transcription	Gastric	stomach
10	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:180055000-180057200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:180055200-180057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:180055200-180058800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
18	chr2:180055800-180057200	Enhancers	HepG2	liver
19	chr2:180056000-180058400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:180056200-180058400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:180056200-180058600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:180056200-180058800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:180056400-180058200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:180056400-180058400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:180056400-180059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:180057000-180059000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:180057200-180057400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:180057200-180058200	Enhancers	Colon Smooth Muscle	Colon
32	chr2:180057200-180058800	Weak transcription	HepG2	liver
33	chr2:180057200-180060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:180058000-180058800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:180058200-180059400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:180058400-180059000	Strong transcription	Primary B cells from cord blood	blood
37	chr2:180058400-180060000	Enhancers	Adipose Nuclei	Adipose
38	chr2:180058600-180058800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:180058600-180059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:180058800-180059000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:180058800-180059000	Enhancers	Brain Anterior Caudate	brain
42	chr2:180058800-180059000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:180058800-180059400	Enhancers	Left Ventricle	heart
44	chr2:180058800-180059400	Enhancers	Right Atrium	heart
45	chr2:180058800-180059800	Enhancers	Gastric	stomach
46	chr2:180058800-180059800	Enhancers	Ovary	ovary
47	chr2:180058800-180060200	Enhancers	HepG2	liver
48	chr2:180058800-180060400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:180059000-180059600	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:180059000-180060000	Weak transcription	Primary B cells from cord blood	blood

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