Variant report

Variant	nsv979032
Chromosome Location	chr2:87096093-87112321
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	BATF	chr2:87098162-87098330	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:87098103-87098408	GM12878	blood:	n/a	n/a
3	BRCA1	chr2:87101965-87102433	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:87100076-87100303	A549	lung:	n/a	chr2:87100117-87100130
5	CTCF	chr2:87104375-87104398	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:87099786-87099809	GM10248	blood:	n/a	n/a
7	EP300	chr2:87102332-87102444	K562	blood:	n/a	n/a
8	FOS	chr2:87106144-87106346	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL2	chr2:87110067-87110336	HepG2	liver:	n/a	n/a
10	FOSL2	chr2:87096231-87096509	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:87095935-87096585	HepG2	liver:	n/a	chr2:87096107-87096119
12	FOXA1	chr2:87109935-87110572	HepG2	liver:	n/a	chr2:87110459-87110471
13	FOXA1	chr2:87096732-87097080	HepG2	liver:	n/a	n/a
14	HEY1	chr2:87109266-87109488	K562	blood:	n/a	n/a
15	MAFF	chr2:87102084-87102424	HepG2	liver:	n/a	n/a
16	MAFF	chr2:87102211-87102411	K562	blood:	n/a	n/a
17	MAFK	chr2:87102057-87102417	HepG2	liver:	n/a	n/a
18	MXI1	chr2:87104918-87105221	GM12878	blood:	n/a	n/a
19	MYBL2	chr2:87109982-87110535	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:87108578-87108737	ProgFib	skin:	n/a	n/a
21	POLR2A	chr2:87104309-87104419	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:87109312-87109348	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:87103135-87103387	MCF-7	breast:	n/a	n/a
24	POLR2A	chr2:87109269-87109271	MCF-7	breast:	n/a	n/a
25	POLR2A	chr2:87104278-87104421	Gliobla	brain:	n/a	n/a
26	POLR2A	chr2:87104321-87104425	A549	lung:	n/a	n/a
27	POLR2A	chr2:87109360-87109367	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:87108849-87108915	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:87104781-87105047	MCF10A-Er-Src	breast:	n/a	n/a
30	RXRA	chr2:87096062-87096457	HepG2	liver:	n/a	chr2:87096230-87096239
31	RXRA	chr2:87095954-87096553	HepG2	liver:	n/a	chr2:87096230-87096239
32	RXRA	chr2:87110056-87110557	HepG2	liver:	n/a	chr2:87110339-87110348
33	RXRA	chr2:87110096-87110431	HepG2	liver:	n/a	chr2:87110339-87110348
34	SIN3AK20	chr2:87096240-87096437	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr2:87110137-87110303	HepG2	liver:	n/a	n/a
36	SPI1	chr2:87107218-87107436	GM12878	blood:	n/a	n/a
37	SPI1	chr2:87107239-87107410	K562	blood:	n/a	n/a
38	SPI1	chr2:87107185-87107410	GM12891	blood:	n/a	n/a
39	STAT3	chr2:87101126-87101410	MCF10A-Er-Src	breast:	n/a	n/a
40	TEAD4	chr2:87095770-87096523	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ANAPC1P1	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7370527	chr2:87096095-87096096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199697940	chr2:87096108-87096109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554989462	chr2:87096167-87096168	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs193191126	chr2:87096183-87096184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7371283	chr2:87096193-87096194	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534928257	chr2:87096210-87096211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185461121	chr2:87096216-87096217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71411878	chr2:87096221-87096222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577762676	chr2:87096243-87096244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541587276	chr2:87096269-87096270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563278723	chr2:87096289-87096290	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575282578	chr2:87096290-87096291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542242648	chr2:87096314-87096315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560572274	chr2:87096357-87096358	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62146899	chr2:87096389-87096390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62146900	chr2:87096394-87096395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs201630203	chr2:87096541-87096542	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs13423978	chr2:87096581-87096582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565528519	chr2:87096585-87096586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs71411880	chr2:87096587-87096588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150436469	chr2:87096593-87096594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551146679	chr2:87096614-87096615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569289633	chr2:87096621-87096622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536724827	chr2:87096643-87096644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548676949	chr2:87096699-87096700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71411881	chr2:87096757-87096758	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566879158	chr2:87096761-87096762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534133395	chr2:87096786-87096787	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553037725	chr2:87096788-87096789	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571507166	chr2:87096794-87096795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs6725174	chr2:87096802-87096803	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
32	rs557096636	chr2:87096831-87096832	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575067226	chr2:87096833-87096834	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs180834145	chr2:87096846-87096847	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554204344	chr2:87096867-87096868	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs572509099	chr2:87096932-87096933	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539839971	chr2:87096933-87096934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377423082	chr2:87096969-87096970	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565483099	chr2:87096978-87096979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs6753738	chr2:87097057-87097058	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562809478	chr2:87097078-87097079	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544510579	chr2:87097100-87097101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183624699	chr2:87097152-87097153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374309344	chr2:87097165-87097166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6743331	chr2:87097187-87097188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367779344	chr2:87097198-87097199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188296563	chr2:87097203-87097204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530274358	chr2:87097216-87097217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548701668	chr2:87097223-87097224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181178217	chr2:87097280-87097281	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87095600-87096800	Weak transcription	Fetal Thymus	thymus
2	chr2:87095800-87096200	Enhancers	HepG2	liver
3	chr2:87096800-87097400	Enhancers	Fetal Thymus	thymus
4	chr2:87104200-87104800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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