Variant report

Variant	nsv961864
Chromosome Location	chr2:110552946-110594174
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	chr2:110555685-110555899	GM12878	blood:	n/a	n/a
2	BATF	chr2:110591595-110591865	GM12878	blood:	n/a	n/a
3	BATF	chr2:110554721-110555155	GM12878	blood:	n/a	n/a
4	BATF	chr2:110565195-110565489	GM12878	blood:	n/a	n/a
5	BATF	chr2:110554663-110555199	GM12878	blood:	n/a	n/a
6	BATF	chr2:110592910-110593154	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:110554748-110555164	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:110584727-110584955	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:110555695-110555957	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:110560190-110560446	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:110563703-110563900	HepG2	liver:	n/a	n/a
12	BHLHE40	chr2:110575410-110575772	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:110573639-110573790	K562	blood:	n/a	n/a
14	CEBPB	chr2:110573581-110573891	K562	blood:	n/a	n/a
15	CTCF	chr2:110556155-110556285	LNCaP	prostate:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
16	CTCF	chr2:110566551-110566665	LNCaP	prostate:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
17	CTCF	chr2:110593570-110593575	LNCaP	prostate:	n/a	n/a
18	CTCF	chr2:110555980-110556401	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
19	CTCF	chr2:110566400-110566730	A549	lung:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
20	CTCF	chr2:110566539-110566658	Medullo	brain:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
21	CTCF	chr2:110556016-110556318	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
22	CTCF	chr2:110589933-110590010	LNCaP	prostate:	n/a	n/a
23	CTCF	chr2:110566561-110566663	GM10248	blood:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
24	CTCF	chr2:110566542-110566652	Lung_OC	lung:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
25	CTCF	chr2:110555665-110556474	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
26	CTCF	chr2:110566406-110566730	A549	lung:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
27	CTCF	chr2:110566230-110566747	A549	lung:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
28	CTCF	chr2:110556012-110556406	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
29	CTCF	chr2:110593599-110593643	LNCaP	prostate:	n/a	n/a
30	CTCF	chr2:110566237-110566874	A549	lung:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
31	CTCF	chr2:110585511-110585607	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:110566627-110566669	GM20000	blood:	n/a	n/a
33	CTCF	chr2:110556031-110556309	K562	blood:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
34	CTCF	chr2:110556160-110556283	LNCaP	prostate:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
35	CTCF	chr2:110566468-110566681	LNCaP	prostate:	n/a	chr2:110566604-110566620 chr2:110566605-110566626 chr2:110566603-110566621
36	CTCF	chr2:110556228-110556237	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr2:110556146-110556265	Medullo	brain:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
38	EBF1	chr2:110592923-110593152	GM12878	blood:	n/a	n/a
39	EBF1	chr2:110584710-110584940	GM12878	blood:	n/a	n/a
40	EBF1	chr2:110590116-110590579	GM12878	blood:	n/a	n/a
41	EBF1	chr2:110565755-110565929	GM12878	blood:	n/a	n/a
42	EBF1	chr2:110571349-110571545	GM12878	blood:	n/a	n/a
43	EBF1	chr2:110564410-110564603	GM12878	blood:	n/a	n/a
44	EBF1	chr2:110554835-110555122	GM12878	blood:	n/a	n/a
45	EBF1	chr2:110589766-110589959	GM12878	blood:	n/a	n/a
46	EP300	chr2:110591769-110592147	GM12878	blood:	n/a	chr2:110591845-110591859
47	EP300	chr2:110590132-110590399	GM12878	blood:	n/a	n/a
48	EP300	chr2:110564470-110564783	GM12878	blood:	n/a	n/a
49	EP300	chr2:110558378-110558942	GM12878	blood:	n/a	n/a
50	EP300	chr2:110556031-110556326	GM12878	blood:	n/a	chr2:110556125-110556139

Variant related genes	Relation type
RGPD5	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372016063	chr2:110556568-110556569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10191102	chr2:110556714-110556715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112178381	chr2:110564671-110564672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2918665	chr2:110572702-110572703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28589309	chr2:110572744-110572745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2918664	chr2:110572752-110572753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150007575	chr2:110572888-110572889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2438862	chr2:110572971-110572972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111968970	chr2:110574953-110574954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2673122	chr2:110574954-110574955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62163513	chr2:110591985-110591986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	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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