Variant report

Variant	esv20686
Chromosome Location	chr2:110749178-110755116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr2:110751198-110751408	GM12878	blood:	n/a	n/a
2	EP300	chr2:110752787-110753110	GM12878	blood:	n/a	n/a
3	EP300	chr2:110751076-110751413	GM12878	blood:	n/a	n/a
4	FOSL2	chr2:110752176-110752428	HepG2	liver:	n/a	n/a
5	FOSL2	chr2:110751145-110751464	HepG2	liver:	n/a	n/a
6	FOSL2	chr2:110754247-110754744	HepG2	liver:	n/a	n/a
7	FOSL2	chr2:110749195-110749548	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:110749478-110749947	HepG2	liver:	n/a	n/a
9	GABPA	chr2:110749414-110749659	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr2:110752844-110753011	Hela-S3	cervix:	n/a	n/a
11	GATA2	chr2:110750275-110750705	K562	blood:	n/a	n/a
12	GATA2	chr2:110750785-110751075	K562	blood:	n/a	n/a
13	JUND	chr2:110751222-110751350	HepG2	liver:	n/a	n/a
14	JUND	chr2:110749253-110749435	HepG2	liver:	n/a	n/a
15	JUND	chr2:110751163-110751397	HepG2	liver:	n/a	n/a
16	PAX5	chr2:110751120-110751382	GM12878	blood:	n/a	n/a
17	PAX5	chr2:110752849-110753033	GM12878	blood:	n/a	n/a
18	PAX5	chr2:110752290-110752460	GM12878	blood:	n/a	n/a
19	PAX5	chr2:110751145-110751528	GM12878	blood:	n/a	n/a
20	PBX3	chr2:110751182-110751366	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:110749314-110749959	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr2:110752832-110753322	A549	lung:	n/a	n/a
23	POLR2A	chr2:110753914-110754126	A549	lung:	n/a	n/a
24	POLR2A	chr2:110750028-110750282	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:110751691-110752122	A549	lung:	n/a	n/a
26	POLR2A	chr2:110750634-110752085	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:110753793-110754665	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr2:110749611-110753788	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr2:110753895-110754088	A549	lung:	n/a	n/a
30	POLR2A	chr2:110751570-110751608	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr2:110754696-110755753	A549	lung:	n/a	n/a
32	POLR2A	chr2:110752827-110753291	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:110750350-110750617	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr2:110751682-110752096	A549	lung:	n/a	n/a
35	POLR2A	chr2:110752154-110752659	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:110750396-110750627	A549	lung:	n/a	n/a
37	POLR2A	chr2:110751720-110752096	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:110751903-110752069	A549	lung:	n/a	n/a
39	POLR2A	chr2:110750514-110750621	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr2:110754801-110754881	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:110752136-110752413	A549	lung:	n/a	n/a
42	POLR2A	chr2:110752799-110753334	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:110752165-110752396	A549	lung:	n/a	n/a
44	POLR2A	chr2:110751059-110751539	A549	lung:	n/a	n/a
45	POLR2A	chr2:110751177-110751472	A549	lung:	n/a	n/a
46	POLR2A	chr2:110753823-110754723	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:110752856-110753299	A549	lung:	n/a	n/a
48	POLR2A	chr2:110747914-110750000	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:110753795-110754150	A549	lung:	n/a	n/a
50	POLR2A	chr2:110754760-110754798	Hela-S3	cervix:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIMS3-1	chr2:110751978-110753717	ENSG00000204588
2	lnc-LIMS3-1	chr2:110751978-110752031	NONHSAT073165

No data

Variant related genes	Relation type
ZBTB45P1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559776662	chr2:110749659-110749660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376647021	chr2:110749833-110749834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs567909426	chr2:110750038-110750039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs564090933	chr2:110750041-110750042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371148779	chr2:110752474-110752475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs374410466	chr2:110752547-110752548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs542359240	chr2:110752772-110752773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368759779	chr2:110752774-110752775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs371117761	chr2:110752796-110752797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373637784	chr2:110752797-110752798	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs336708	chr2:110752828-110752829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs367775221	chr2:110752837-110752838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78186126	chr2:110752838-110752839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201575560	chr2:110752859-110752860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562481253	chr2:110752877-110752878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs368197526	chr2:110752879-110752880	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142742218	chr2:110752906-110752907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551617963	chr2:110752943-110752944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs374516246	chr2:110753032-110753033	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs377692658	chr2:110753060-110753061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs370303071	chr2:110753061-110753062	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs373450139	chr2:110753089-110753090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376963744	chr2:110753165-110753166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs370610447	chr2:110753182-110753183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs565053281	chr2:110753187-110753188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs377142862	chr2:110753192-110753193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368819467	chr2:110753222-110753223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs372700862	chr2:110753265-110753266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368503028	chr2:110753662-110753663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180951314	chr2:110753665-110753666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs527433981	chr2:110753672-110753673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs377169837	chr2:110753676-110753677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Malignant peripheral nerve sheath tumor	18522746	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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	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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