Variant report

Variant	nsv960976
Chromosome Location	chr2:98967643-98973191
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	BCL3	chr2:98973063-98973601	A549	lung:	n/a	n/a
2	EP300	chr2:98972849-98973707	A549	lung:	n/a	chr2:98973324-98973334
3	EP300	chr2:98973030-98973654	A549	lung:	n/a	chr2:98973324-98973334
4	FOSL2	chr2:98972853-98973726	A549	lung:	n/a	chr2:98973230-98973240
5	FOSL2	chr2:98973084-98973561	A549	lung:	n/a	chr2:98973230-98973240
6	FOXA2	chr2:98972794-98973664	A549	lung:	n/a	n/a
7	FOXA2	chr2:98972762-98973571	A549	lung:	n/a	n/a
8	GABPA	chr2:98973091-98973515	A549	lung:	n/a	n/a
9	GATA3	chr2:98972890-98973841	A549	lung:	n/a	n/a
10	GATA3	chr2:98973025-98973595	A549	lung:	n/a	n/a
11	GATA3	chr2:98970738-98970862	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr2:98973183-98973568	T-47D	breast:	n/a	n/a
13	JUND	chr2:98973086-98973629	A549	lung:	n/a	chr2:98973230-98973240 chr2:98973380-98973391
14	JUND	chr2:98973092-98973689	T-47D	breast:	n/a	chr2:98973230-98973240 chr2:98973380-98973391
15	NRF1	chr2:98972719-98972742	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr2:98973126-98973464	A549	lung:	n/a	n/a
17	REST	chr2:98973062-98973628	A549	lung:	n/a	n/a
18	SP1	chr2:98973025-98973661	A549	lung:	n/a	n/a
19	SP1	chr2:98972827-98973701	A549	lung:	n/a	n/a
20	TCF12	chr2:98972772-98973803	A549	lung:	n/a	n/a
21	TCF7L2	chr2:98972896-98973626	PANC-1	pancreas:	n/a	n/a
22	TCF7L2	chr2:98968654-98969067	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98966148..98968083-chr2:98968184..98969887,2	MCF-7	breast:
2	chr2:98961715..98963555-chr2:98968973..98971028,2	K562	blood:
3	chr2:98947397..98949375-chr2:98973131..98975837,2	MCF-7	breast:
4	chr2:98966148..98968083-chr2:98968184..98969887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222000	TF binding region
ENSG00000144191	chromatin interactions
ENSG00000227987	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576572543	chr2:98967647-98967648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2134936	chr2:98967700-98967701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562065796	chr2:98967701-98967702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572238240	chr2:98967724-98967725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139194548	chr2:98967737-98967738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564184384	chr2:98967774-98967775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184501831	chr2:98967814-98967815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13432099	chr2:98967815-98967816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs149969541	chr2:98967834-98967835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189393404	chr2:98967843-98967844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367978845	chr2:98967873-98967874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2055592	chr2:98967891-98967892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568145818	chr2:98967965-98967966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533907741	chr2:98967983-98967984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182226793	chr2:98968034-98968035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561702960	chr2:98968035-98968036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367569355	chr2:98968054-98968055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144975150	chr2:98968134-98968135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142176393	chr2:98968146-98968147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146476080	chr2:98968161-98968162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186340989	chr2:98968192-98968193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538575896	chr2:98968204-98968205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10190679	chr2:98968225-98968226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559359826	chr2:98968231-98968232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572200054	chr2:98968324-98968325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115597078	chr2:98968342-98968343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367548470	chr2:98968346-98968347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577626530	chr2:98968351-98968352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533149831	chr2:98968430-98968431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55746803	chr2:98968435-98968436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562662604	chr2:98968436-98968437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531661773	chr2:98968438-98968439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190679473	chr2:98968450-98968451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561904177	chr2:98968451-98968452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540216317	chr2:98968480-98968481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147908800	chr2:98968497-98968498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375822166	chr2:98968573-98968574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181448684	chr2:98968602-98968603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369921650	chr2:98968647-98968648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570420366	chr2:98968670-98968671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371956381	chr2:98968726-98968727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141672028	chr2:98968739-98968740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74505375	chr2:98968740-98968741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376358012	chr2:98968748-98968749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369278878	chr2:98968767-98968768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373498140	chr2:98968768-98968769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147031504	chr2:98968769-98968770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555541021	chr2:98968796-98968797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377414483	chr2:98968819-98968820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572310623	chr2:98968823-98968824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98964800-98970000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98965800-98972400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:98970000-98970400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr2:98970400-98972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:98972200-98972800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:98972400-98972600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:98972400-98974000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:98972400-98974000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:98972600-98974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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