Variant report

Variant	nsv963704
Chromosome Location	chr2:113036252-113044944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:113044062-113044085	A549	lung:	n/a	n/a
2	CEBPB	chr2:113039775-113039911	HepG2	liver:	n/a	chr2:113039881-113039892
3	CTCF	chr2:113037251-113037268	GM10248	blood:	n/a	n/a
4	CTCF	chr2:113041930-113042054	GM10248	blood:	n/a	n/a
5	CTCF	chr2:113043020-113043059	GM10248	blood:	n/a	n/a
6	CTCF	chr2:113042167-113042197	Medullo	brain:	n/a	n/a
7	CTCF	chr2:113042119-113042155	Medullo	brain:	n/a	n/a
8	FOSL2	chr2:113039706-113039966	HepG2	liver:	n/a	n/a
9	FOXA2	chr2:113040825-113041176	A549	lung:	n/a	chr2:113040882-113040894 chr2:113040995-113041007 chr2:113041043-113041055
10	GATA2	chr2:113040235-113040505	K562	blood:	n/a	n/a
11	GATA3	chr2:113040303-113040609	SH-SY5Y	brain:	n/a	n/a
12	POLR2A	chr2:113036531-113036557	K562	blood:	n/a	n/a
13	POLR2A	chr2:113037994-113038883	K562	blood:	n/a	n/a
14	POLR2A	chr2:113044567-113044641	K562	blood:	n/a	n/a
15	RXRA	chr2:113039600-113039928	HepG2	liver:	n/a	n/a
16	SP1	chr2:113039709-113040083	HepG2	liver:	n/a	n/a
17	TAF1	chr2:113041223-113041387	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr2:113039394-113039604	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113031538..113036695-chr2:113297613..113301921,6	K562	blood:
2	chr2:113031383..113033830-chr2:113044346..113047264,3	MCF-7	breast:
3	chr2:113032184..113035804-chr2:113038196..113041130,4	MCF-7	breast:
4	chr2:113031677..113034717-chr2:113042895..113047019,4	K562	blood:
5	chr2:113031252..113036924-chr2:113235926..113242226,12	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H8-1	chr2:113043634-113043999	NONHSAT073689

No data

Variant related genes	Relation type
ENSG00000235258	TF binding region
ENSG00000125630	chromatin interactions
ENSG00000114999	chromatin interactions
ENSG00000188177	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545609392	chr2:113036338-113036339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570064233	chr2:113036375-113036376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569770630	chr2:113036482-113036483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559230976	chr2:113036515-113036516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186029414	chr2:113036554-113036555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs72831685	chr2:113036555-113036556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs561093918	chr2:113036589-113036590	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530113795	chr2:113036598-113036599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370525389	chr2:113036602-113036603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549023779	chr2:113036611-113036612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542507198	chr2:113036629-113036630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566078595	chr2:113036647-113036648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190897017	chr2:113036657-113036658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558223009	chr2:113036686-113036687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181344189	chr2:113036712-113036713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376854709	chr2:113036726-113036727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150719078	chr2:113036763-113036764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527359387	chr2:113036798-113036799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547485526	chr2:113036816-113036817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567111776	chr2:113036817-113036818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13001618	chr2:113036839-113036840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549551405	chr2:113036880-113036881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570347807	chr2:113036882-113036883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs578182091	chr2:113036931-113036932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539367303	chr2:113036976-113036977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112727173	chr2:113037034-113037035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372989368	chr2:113037057-113037058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539862145	chr2:113037058-113037059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186514029	chr2:113037061-113037062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191670764	chr2:113037091-113037092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555047078	chr2:113037113-113037114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574886044	chr2:113037146-113037147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543792467	chr2:113037190-113037191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563569886	chr2:113037208-113037209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575910963	chr2:113037210-113037211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573276520	chr2:113037213-113037214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574246224	chr2:113037260-113037261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544924971	chr2:113037328-113037329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183049246	chr2:113037342-113037343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527492669	chr2:113037453-113037454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186323854	chr2:113037528-113037529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201032550	chr2:113037531-113037532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142538116	chr2:113037611-113037612	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs72531622	chr2:113037696-113037697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35721612	chr2:113037697-113037698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67752453	chr2:113037698-113037699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529785272	chr2:113037709-113037710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549727977	chr2:113037732-113037733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569688926	chr2:113037747-113037748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539302751	chr2:113037770-113037771	Weak transcription	n/a	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
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
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034200-113058200	Weak transcription	Ovary	ovary
2	chr2:113034400-113036600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:113034400-113047800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:113034400-113051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
6	chr2:113034600-113037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:113034600-113039600	Weak transcription	Fetal Heart	heart
8	chr2:113034800-113037000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:113034800-113039600	Weak transcription	HepG2	liver
10	chr2:113034800-113041400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:113035000-113036600	Enhancers	Liver	Liver
12	chr2:113035000-113046000	Weak transcription	Fetal Kidney	kidney
13	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:113035200-113040200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:113035400-113036600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:113035400-113037000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:113035400-113040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:113035400-113047600	Weak transcription	Osteobl	bone
21	chr2:113035600-113036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:113035600-113040400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:113035600-113041200	Weak transcription	K562	blood
24	chr2:113035600-113047600	Weak transcription	NHDF-Ad	bronchial
25	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:113035800-113036600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:113035800-113038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:113035800-113040200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
30	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
31	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:113036000-113040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:113036000-113040000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:113036000-113040600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:113036200-113041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:113036600-113036800	Enhancers	Brain Germinal Matrix	brain
37	chr2:113036600-113040000	Weak transcription	Liver	Liver
38	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:113036800-113037000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:113037000-113040000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:113038000-113038600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:113038600-113040000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:113039600-113040600	Enhancers	HepG2	liver
45	chr2:113039600-113041200	Enhancers	Fetal Heart	heart
46	chr2:113040000-113040200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:113040000-113040600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:113040000-113040800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:113040000-113041800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:113040000-113041800	Enhancers	Liver	Liver

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