Variant report

Variant	nsv979335
Chromosome Location	chr2:73876316-73897805
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	chr2:73877660-73878170	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:73877667-73878169	A549	lung:	n/a	n/a
3	CEBPB	chr2:73877771-73878092	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:73877646-73878600	HepG2	liver:	n/a	chr2:73878449-73878460
5	CEBPB	chr2:73877993-73878055	K562	blood:	n/a	n/a
6	CTCF	chr2:73878940-73879090	RPTEC	kidney:	n/a	n/a
7	CTCF	chr2:73878600-73878750	HEK293	kidney:	n/a	n/a
8	CTCF	chr2:73879127-73879200	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:73879234-73879237	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr2:73877571-73877588	GM13976	blood:	n/a	n/a
11	CTCF	chr2:73891902-73891943	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr2:73879072-73879232	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr2:73879080-73879230	RPTEC	kidney:	n/a	n/a
14	CTCF	chr2:73880722-73880789	GM10248	blood:	n/a	n/a
15	E2F4	chr2:73887998-73888152	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:73890770-73890919	MCF10A-Er-Src	breast:	n/a	chr2:73890864-73890871 chr2:73890810-73890820 chr2:73890864-73890873
17	FOXA1	chr2:73897167-73897522	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:73897149-73897529	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:73897026-73897600	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:73897038-73897597	HepG2	liver:	n/a	n/a
21	FOXA2	chr2:73897145-73897379	HepG2	liver:	n/a	n/a
22	JUND	chr2:73890707-73890994	HepG2	liver:	n/a	chr2:73890864-73890871 chr2:73890862-73890873 chr2:73890810-73890820 chr2:73890864-73890873
23	KAP1	chr2:73886415-73886918	K562	blood:	n/a	n/a
24	MYC	chr2:73876354-73876379	K562	blood:	n/a	n/a
25	POLR2A	chr2:73892656-73892857	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:73882097-73882165	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:73882083-73882089	GM12878	blood:	n/a	n/a
28	RAD21	chr2:73879043-73879215	HepG2	liver:	n/a	n/a
29	RAD21	chr2:73878973-73879262	HepG2	liver:	n/a	n/a
30	RCOR1	chr2:73885196-73885200	Hela-S3	cervix:	n/a	n/a
31	RFX5	chr2:73879917-73879941	K562	blood:	n/a	n/a
32	SPI1	chr2:73878353-73878697	GM12891	blood:	n/a	n/a
33	SPI1	chr2:73878477-73878723	GM12878	blood:	n/a	n/a
34	SPI1	chr2:73878361-73878687	GM12891	blood:	n/a	n/a
35	STAT3	chr2:73897531-73897744	MCF10A-Er-Src	breast:	n/a	chr2:73897572-73897583
36	STAT3	chr2:73897501-73897684	MCF10A-Er-Src	breast:	n/a	chr2:73897572-73897583

No.	Distal block	Cell Line	Cell type
1	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:
2	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
3	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
4	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:
5	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:

Variant related genes	Relation type
ALMS1P	TF binding region

Extended variants
information (count: 321 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565788348	chr2:73876333-73876334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187117212	chr2:73876351-73876352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554554333	chr2:73876362-73876363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11884059	chr2:73876384-73876385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72913485	chr2:73876400-73876401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558713650	chr2:73876434-73876435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577054255	chr2:73876452-73876453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541251256	chr2:73876493-73876494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575771255	chr2:73876495-73876496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574884937	chr2:73876574-73876575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541809621	chr2:73876621-73876622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114574662	chr2:73876623-73876624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576248322	chr2:73876678-73876679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140758853	chr2:73876704-73876705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372197469	chr2:73876723-73876724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370417025	chr2:73876753-73876754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565050077	chr2:73876758-73876759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191614966	chr2:73876795-73876796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547623034	chr2:73876808-73876809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184243422	chr2:73876828-73876829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111833974	chr2:73876845-73876846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35158565	chr2:73876884-73876885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573204445	chr2:73876894-73876895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547867768	chr2:73876905-73876906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569670022	chr2:73876933-73876934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536322556	chr2:73876955-73876956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72811973	chr2:73876966-73876967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570827838	chr2:73876992-73876993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534846430	chr2:73877007-73877008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553533414	chr2:73877012-73877013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201103371	chr2:73877018-73877019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377293462	chr2:73877028-73877029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138909909	chr2:73877048-73877049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372929983	chr2:73877053-73877054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10189885	chr2:73877055-73877056	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs200422075	chr2:73877059-73877060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12995595	chr2:73877064-73877065	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs72811974	chr2:73877086-73877087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79439627	chr2:73877127-73877128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557061672	chr2:73877149-73877150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369046285	chr2:73877156-73877157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201355551	chr2:73877158-73877159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372614323	chr2:73877179-73877180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190781976	chr2:73877184-73877185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199715029	chr2:73877209-73877210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565141085	chr2:73877215-73877216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10168931	chr2:73877219-73877220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs541225209	chr2:73877224-73877225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559540648	chr2:73877231-73877232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193037397	chr2:73877251-73877252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73868600-73877000	Weak transcription	Gastric	stomach
2	chr2:73871200-73878800	Weak transcription	Liver	Liver
3	chr2:73876000-73880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:73876200-73876400	Enhancers	Fetal Lung	lung
5	chr2:73876400-73877800	Weak transcription	Fetal Lung	lung
6	chr2:73877800-73878600	Enhancers	Fetal Lung	lung
7	chr2:73878200-73878800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:73878200-73879200	Enhancers	GM12878-XiMat	blood
9	chr2:73878800-73880000	Enhancers	Liver	Liver
10	chr2:73879200-73881600	Weak transcription	GM12878-XiMat	blood
11	chr2:73881600-73882000	Enhancers	GM12878-XiMat	blood
12	chr2:73890800-73891200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:73896200-73905200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:73896800-73897800	Enhancers	HepG2	liver
15	chr2:73897000-73897200	Enhancers	Gastric	stomach
16	chr2:73897200-73904600	Weak transcription	Gastric	stomach
17	chr2:73897400-73899600	Weak transcription	Fetal Brain Female	brain
18	chr2:73897600-73899200	Weak transcription	Ovary	ovary

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