Variant report

Variant	esv3343358
Chromosome Location	chr2:114409382-114412280
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	chr2:114410353-114410372	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114411198-114411222	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:114409629-114409827	HepG2	liver:	n/a	n/a
4	FOS	chr2:114411121-114411325	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:114409048-114409398	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:114411144-114411318	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:114411148-114411318	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr2:114410002-114410488	HepG2	liver:	n/a	chr2:114410241-114410252
9	FOSL2	chr2:114410588-114410758	HepG2	liver:	n/a	n/a
10	FOSL2	chr2:114411203-114411300	A549	lung:	n/a	n/a
11	FOSL2	chr2:114410788-114411095	HepG2	liver:	n/a	chr2:114410892-114410903 chr2:114410943-114410954
12	FOSL2	chr2:114411165-114411397	A549	lung:	n/a	n/a
13	FOSL2	chr2:114409441-114409986	HepG2	liver:	n/a	chr2:114409688-114409699 chr2:114409735-114409746
14	FOSL2	chr2:114410557-114411316	HepG2	liver:	n/a	chr2:114410892-114410903 chr2:114410943-114410954
15	FOSL2	chr2:114411117-114411359	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:114410028-114410508	HepG2	liver:	n/a	chr2:114410241-114410252
17	FOSL2	chr2:114409473-114409907	HepG2	liver:	n/a	chr2:114409688-114409699 chr2:114409735-114409746
18	JUND	chr2:114410245-114410474	HepG2	liver:	n/a	chr2:114410391-114410402 chr2:114410344-114410355
19	JUND	chr2:114410332-114410466	HepG2	liver:	n/a	chr2:114410391-114410402 chr2:114410344-114410355
20	JUND	chr2:114409501-114409825	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
21	JUND	chr2:114409965-114410286	A549	lung:	n/a	n/a
22	JUND	chr2:114409614-114409769	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
23	JUND	chr2:114410069-114410224	HepG2	liver:	n/a	n/a
24	JUND	chr2:114409529-114409843	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
25	JUND	chr2:114410045-114410225	HepG2	liver:	n/a	n/a
26	JUND	chr2:114409705-114409712	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFIC	chr2:114410885-114411191	GM12878	blood:	n/a	n/a
28	NFIC	chr2:114409007-114409879	GM12878	blood:	n/a	n/a
29	PBX3	chr2:114410958-114411084	GM12878	blood:	n/a	n/a
30	PBX3	chr2:114410067-114410224	GM12878	blood:	n/a	n/a
31	PBX3	chr2:114411145-114411280	GM12878	blood:	n/a	n/a
32	PBX3	chr2:114409499-114409769	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:114410058-114410461	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:114411478-114412107	K562	blood:	n/a	n/a
35	POLR2A	chr2:114411219-114411287	ProgFib	skin:	n/a	n/a
36	POLR2A	chr2:114410033-114410488	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:114410583-114410754	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr2:114410599-114410734	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:114409498-114409695	K562	blood:	n/a	n/a
40	POLR2A	chr2:114409221-114409466	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:114409405-114409915	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr2:114409498-114409815	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:114410934-114411093	K562	blood:	n/a	n/a
44	POLR2A	chr2:114410783-114411107	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:114411121-114411348	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:114410799-114411087	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:114411144-114411321	H1-hESC	embryonic stem cell:	n/a	n/a
48	SETDB1	chr2:114410224-114410553	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114408097..114410441-chr2:114413674..114415542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144158	TF binding region
ENSG00000144158	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574860382	chr2:114409444-114409445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375564349	chr2:114409501-114409502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537474802	chr2:114409509-114409510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1739515	chr2:114409631-114409632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557414366	chr2:114409644-114409645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77354153	chr2:114409649-114409650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80070098	chr2:114409655-114409656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75191579	chr2:114409672-114409673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78889553	chr2:114409677-114409678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs398088940	chr2:114409679-114409680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74836937	chr2:114409682-114409683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372291747	chr2:114409702-114409703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77602549	chr2:114409705-114409706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74833947	chr2:114409711-114409712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75669739	chr2:114409724-114409725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375314557	chr2:114409726-114409727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79162641	chr2:114409729-114409730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369797032	chr2:114409765-114409766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372678968	chr2:114409774-114409775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375848241	chr2:114409783-114409784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540048177	chr2:114409786-114409787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539961818	chr2:114409820-114409821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573762618	chr2:114409821-114409822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369411441	chr2:114409854-114409855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542871237	chr2:114409866-114409867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373248144	chr2:114409871-114409872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562794796	chr2:114409875-114409876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377651140	chr2:114409895-114409896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544652810	chr2:114409904-114409905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564563744	chr2:114409905-114409906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370900224	chr2:114409922-114409923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533517912	chr2:114409928-114409929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111442422	chr2:114409934-114409935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546783949	chr2:114409937-114409938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567015509	chr2:114409940-114409941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377747785	chr2:114409985-114409986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529480481	chr2:114409990-114409991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371483750	chr2:114410007-114410008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549242571	chr2:114410016-114410017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569241895	chr2:114410025-114410026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373799977	chr2:114410058-114410059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62158989	chr2:114410097-114410098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367563786	chr2:114410134-114410135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537436082	chr2:114410141-114410142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557375272	chr2:114410146-114410147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370512405	chr2:114410160-114410161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571158428	chr2:114410181-114410182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112562856	chr2:114410230-114410231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533844991	chr2:114410234-114410235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373934958	chr2:114410258-114410259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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