Variant report

Variant	nsv961702
Chromosome Location	chr2:187027942-187043962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:187031418-187031479	HepG2	liver:	n/a	n/a
2	CTCF	chr2:187031412-187031536	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:187032071-187032129	GM12878	blood:	n/a	n/a
4	CTCF	chr2:187031940-187032090	Caco-2	colon:	n/a	n/a
5	CTCF	chr2:187032010-187032145	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:187031988-187032169	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:187031425-187031500	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:187032025-187032152	LNCaP	prostate:	n/a	n/a
9	CTCF	chr2:187031920-187032070	NHEK	skin:	n/a	n/a
10	CTCF	chr2:187032000-187032150	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr2:187031880-187032030	RPTEC	kidney:	n/a	n/a
12	CTCF	chr2:187031280-187031430	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:187032059-187032079	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:187032040-187032190	HMEC	breast:	n/a	n/a
15	CTCF	chr2:187032020-187032170	HCT-116	colon:	n/a	n/a
16	CTCF	chr2:187031420-187031570	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:187032018-187032154	HepG2	liver:	n/a	n/a
18	CTCF	chr2:187032042-187032157	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr2:187029360-187029510	GM12864	blood:	n/a	n/a
20	CTCF	chr2:187032000-187032150	MCF-7	breast:	n/a	n/a
21	FOXA1	chr2:187042041-187042338	HepG2	liver:	n/a	n/a
22	IRF3	chr2:187042930-187042992	HepG2	liver:	n/a	n/a
23	MAFF	chr2:187029073-187029392	HepG2	liver:	n/a	chr2:187029243-187029261
24	MAFK	chr2:187029095-187029411	HepG2	liver:	n/a	chr2:187029244-187029259
25	MAFK	chr2:187042943-187043030	HepG2	liver:	n/a	n/a
26	MAFK	chr2:187042938-187043082	HepG2	liver:	n/a	n/a
27	MAFK	chr2:187029079-187029410	HepG2	liver:	n/a	chr2:187029244-187029259
28	MAFK	chr2:187029182-187029322	IMR90	lung:	n/a	chr2:187029244-187029259
29	POLR2A	chr2:187027951-187027972	ProgFib	skin:	n/a	n/a
30	POLR2A	chr2:187027842-187027948	ProgFib	skin:	n/a	n/a
31	POLR2A	chr2:187043681-187043762	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:187032115-187032163	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:187043577-187043675	GM12878	blood:	n/a	n/a
34	RAD21	chr2:187031981-187032265	MCF-7	breast:	n/a	n/a
35	RAD21	chr2:187031319-187031671	HCT-116	colon:	n/a	n/a
36	RAD21	chr2:187031376-187031609	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr2:187031421-187031565	HepG2	liver:	n/a	n/a
38	RAD21	chr2:187031353-187031596	H1-hESC	embryonic stem cell:	n/a	n/a
39	STAT3	chr2:187032013-187032147	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr2:187032578-187032615	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF12	chr2:187037942-187038114	H1-hESC	embryonic stem cell:	n/a	n/a
42	USF1	chr2:187037898-187038198	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187027645..187029211-chr2:187033628..187036309,2	MCF-7	breast:
2	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187035921-187036575	NONHSAT075981
2	lnc-ZSWIM2-10	chr2:187027676-187027972	NONHSAT075988

No data

Variant related genes	Relation type
ENSG00000226410	TF binding region
ENSG00000226410	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537864664	chr2:187027982-187027983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532500331	chr2:187027990-187027991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61573398	chr2:187028025-187028026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192223848	chr2:187028050-187028051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184426366	chr2:187028072-187028073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561871827	chr2:187028093-187028094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548315663	chr2:187028097-187028098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567452679	chr2:187028099-187028100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374144789	chr2:187028166-187028167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189586819	chr2:187028230-187028231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550009156	chr2:187028297-187028298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571466812	chr2:187028346-187028347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538612467	chr2:187028354-187028355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553782889	chr2:187028431-187028432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60597870	chr2:187028437-187028438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536347997	chr2:187028482-187028483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72903640	chr2:187028547-187028548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576536383	chr2:187028569-187028570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543976909	chr2:187028616-187028617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543667720	chr2:187028733-187028734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13419562	chr2:187028772-187028773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73980830	chr2:187028792-187028793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112741506	chr2:187028798-187028799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150258466	chr2:187028828-187028829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181888924	chr2:187028837-187028838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13394129	chr2:187028874-187028875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144458102	chr2:187028878-187028879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138948512	chr2:187028886-187028887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370498073	chr2:187028896-187028897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10175720	chr2:187028900-187028901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531500272	chr2:187028910-187028911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531750199	chr2:187028911-187028912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201921954	chr2:187028924-187028925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571451568	chr2:187028944-187028945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79486639	chr2:187028954-187028955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58664775	chr2:187028956-187028957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532434417	chr2:187028958-187028959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397871238	chr2:187028962-187028963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534792225	chr2:187028964-187028965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10199590	chr2:187028994-187028995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144775355	chr2:187029016-187029017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536262032	chr2:187029042-187029043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554611887	chr2:187029048-187029049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569671225	chr2:187029072-187029073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180704234	chr2:187029083-187029084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs558868906	chr2:187029098-187029099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs10153530	chr2:187029109-187029110	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534982181	chr2:187029139-187029140	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553256041	chr2:187029160-187029161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372813877	chr2:187029224-187029225	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187025000-187049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:187027600-187028000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:187027600-187028000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:187029200-187029400	ZNF genes & repeats	Aorta	Aorta
5	chr2:187029200-187029600	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:187029400-187044400	Weak transcription	Aorta	Aorta
7	chr2:187029600-187037400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:187037400-187038000	ZNF genes & repeats	Fetal Intestine Small	intestine

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