Variant report

Variant	nsv978943
Chromosome Location	chr2:110467303-110470622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149590994	chr2:110467328-110467329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528478542	chr2:110467337-110467338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184172062	chr2:110467349-110467350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188726015	chr2:110467384-110467385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531135195	chr2:110467419-110467420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550730639	chr2:110467463-110467464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28758503	chr2:110467471-110467472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148724864	chr2:110467520-110467521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28438997	chr2:110467591-110467592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201155699	chr2:110467662-110467663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565676009	chr2:110467754-110467755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193216844	chr2:110467756-110467757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534594819	chr2:110467774-110467775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71276667	chr2:110467777-110467778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574647080	chr2:110467780-110467781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34495930	chr2:110467784-110467785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557146875	chr2:110467789-110467790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570242750	chr2:110467838-110467839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543122371	chr2:110467887-110467888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559458238	chr2:110467890-110467891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573286412	chr2:110467945-110467946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542180696	chr2:110467946-110467947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371805107	chr2:110467958-110467959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112979590	chr2:110467961-110467962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35640120	chr2:110467972-110467973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561957383	chr2:110468005-110468006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375596070	chr2:110468044-110468045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370362530	chr2:110468056-110468057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531198136	chr2:110468116-110468117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544504275	chr2:110468125-110468126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185246385	chr2:110468128-110468129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187351942	chr2:110468186-110468187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546822977	chr2:110468191-110468192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373821061	chr2:110468199-110468200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565745810	chr2:110468233-110468234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191809486	chr2:110468302-110468303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184135873	chr2:110468386-110468387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567967659	chr2:110468422-110468423	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35921849	chr2:110468434-110468435	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565278376	chr2:110468501-110468502	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188463739	chr2:110468529-110468530	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531006586	chr2:110468532-110468533	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180783664	chr2:110468549-110468550	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570794361	chr2:110468696-110468697	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539624438	chr2:110468767-110468768	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531181199	chr2:110468791-110468792	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552915301	chr2:110468838-110468839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573444121	chr2:110468846-110468847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550850971	chr2:110468852-110468853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1434169	chr2:110468859-110468860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Autism	22495309	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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110458800-110468400	Weak transcription	Right Atrium	heart
2	chr2:110460200-110468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:110460200-110469200	Weak transcription	Lung	lung
4	chr2:110461000-110474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:110462000-110469000	Weak transcription	HepG2	liver
6	chr2:110464600-110468200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:110466200-110473000	Weak transcription	Esophagus	oesophagus
8	chr2:110467000-110467400	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:110467000-110467600	Enhancers	Colonic Mucosa	Colon
10	chr2:110467000-110467600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:110467000-110468600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:110467000-110470000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:110467200-110468000	Weak transcription	Stomach Mucosa	stomach
14	chr2:110467200-110468200	Weak transcription	Spleen	Spleen
15	chr2:110468000-110468400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:110468000-110468400	Enhancers	Stomach Mucosa	stomach
17	chr2:110468000-110469800	Enhancers	Fetal Heart	heart
18	chr2:110468200-110468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:110468200-110468600	Enhancers	Spleen	Spleen
20	chr2:110468400-110468800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:110468400-110469600	Enhancers	Right Atrium	heart
22	chr2:110468600-110469600	Enhancers	Right Ventricle	heart
23	chr2:110468600-110472800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:110468800-110469200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:110468800-110469200	Enhancers	Left Ventricle	heart
26	chr2:110468800-110469600	Enhancers	Placenta	Placenta
27	chr2:110468800-110469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:110468800-110469800	Enhancers	GM12878-XiMat	blood
29	chr2:110468800-110484400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:110469000-110469200	Active TSS	HepG2	liver
31	chr2:110469000-110469400	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:110469000-110469800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:110469200-110469600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:110469200-110469600	Enhancers	Lung	lung
35	chr2:110469200-110469800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:110469200-110469800	Flanking Active TSS	HepG2	liver
37	chr2:110469400-110469600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:110469400-110469600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:110469400-110473000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:110469600-110473000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:110469800-110470200	Weak transcription	GM12878-XiMat	blood
42	chr2:110469800-110470800	Weak transcription	Fetal Heart	heart
43	chr2:110469800-110471400	Enhancers	HepG2	liver
44	chr2:110469800-110477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:110470200-110470800	Enhancers	GM12878-XiMat	blood

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