Variant report

Variant	nsv979089
Chromosome Location	chr2:110646534-110683075
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	chr2:110663352-110663813	GM12878	blood:	n/a	chr2:110663553-110663564 chr2:110663608-110663619
2	BATF	chr2:110653717-110654248	GM12878	blood:	n/a	chr2:110654054-110654064 chr2:110654053-110654064
3	BATF	chr2:110655074-110655448	GM12878	blood:	n/a	n/a
4	BATF	chr2:110653650-110654385	GM12878	blood:	n/a	chr2:110654054-110654064 chr2:110654053-110654064
5	BATF	chr2:110653035-110653493	GM12878	blood:	n/a	n/a
6	BATF	chr2:110663321-110663821	GM12878	blood:	n/a	chr2:110663553-110663564 chr2:110663608-110663619
7	BATF	chr2:110662784-110663052	GM12878	blood:	n/a	chr2:110662929-110662940
8	BCL11A	chr2:110663316-110663738	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:110653775-110654123	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:110653155-110653347	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:110653735-110654258	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:110663268-110663851	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:110659894-110660095	GM12878	blood:	n/a	chr2:110659948-110659957
14	BCL11A	chr2:110667539-110667813	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:110653076-110653477	GM12878	blood:	n/a	n/a
16	CTCF	chr2:110648223-110648307	GM13976	blood:	n/a	n/a
17	CTCF	chr2:110647629-110647734	NHEK	skin:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
18	CTCF	chr2:110647414-110647891	A549	lung:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
19	CTCF	chr2:110647269-110647371	Gliobla	brain:	n/a	n/a
20	CTCF	chr2:110647747-110647748	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr2:110647552-110647746	Pancreas_OC	pancreas:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
22	CTCF	chr2:110647548-110647729	Hela-S3	cervix:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
23	CTCF	chr2:110647406-110647765	A549	lung:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
24	CTCF	chr2:110677663-110677761	GM10248	blood:	n/a	n/a
25	CTCF	chr2:110647579-110647698	GM10266	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
26	CTCF	chr2:110647537-110647763	Kidney_OC	kidney:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
27	CTCF	chr2:110647583-110647729	MCF-7	breast:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
28	CTCF	chr2:110647518-110647752	LNCaP	prostate:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
29	CTCF	chr2:110677654-110677775	Medullo	brain:	n/a	n/a
30	CTCF	chr2:110647549-110647734	GM10248	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
31	CTCF	chr2:110654406-110654467	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:110655766-110655841	GM13976	blood:	n/a	n/a
33	CTCF	chr2:110647546-110647757	Gliobla	brain:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
34	CTCF	chr2:110647580-110647731	HepG2	liver:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
35	CTCF	chr2:110647601-110647723	ProgFib	skin:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
36	CTCF	chr2:110647534-110647726	K562	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
37	CTCF	chr2:110647530-110647770	Medullo	brain:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
38	CTCF	chr2:110647637-110647735	Fibrobl	skin:	n/a	chr2:110647637-110647645
39	CTCF	chr2:110647559-110647733	Lung_OC	lung:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
40	CTCF	chr2:110648208-110648213	GM13976	blood:	n/a	n/a
41	CTCF	chr2:110668519-110668561	GM10248	blood:	n/a	n/a
42	CTCF	chr2:110652190-110652226	GM13976	blood:	n/a	n/a
43	CTCF	chr2:110647525-110647720	K562	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
44	CTCF	chr2:110647571-110647722	K562	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
45	CTCF	chr2:110647583-110647736	GM13976	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
46	CTCF	chr2:110647245-110647365	A549	lung:	n/a	n/a
47	CTCF	chr2:110647560-110647745	LNCaP	prostate:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
48	CTCF	chr2:110647457-110647788	A549	lung:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
49	CTCF	chr2:110647566-110647734	GM12878	blood:	n/a	chr2:110647634-110647655 chr2:110647637-110647645
50	CTCF	chr2:110647567-110647741	MCF-7	breast:	n/a	chr2:110647634-110647655 chr2:110647637-110647645

Variant related genes	Relation type
LIMS3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62161350	chr2:110651914-110651915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62161352	chr2:110652608-110652609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62161353	chr2:110652617-110652618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62161354	chr2:110653592-110653593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62161355	chr2:110653661-110653662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62161356	chr2:110653663-110653664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62161357	chr2:110653709-110653710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113406090	chr2:110654079-110654080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3806526	chr2:110655896-110655897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs62162963	chr2:110656623-110656624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

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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