Variant report

Variant	esv14570
Chromosome Location	chr2:110442927-110447590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110435840..110438654-chr2:110446999..110448898,2	MCF-7	breast:

Extended variants
information (count: 201 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190994761	chr2:110442933-110442934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557987083	chr2:110442942-110442943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576443450	chr2:110442943-110442944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545365526	chr2:110443025-110443026	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs6754964	chr2:110443041-110443042	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145079195	chr2:110443045-110443046	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183557742	chr2:110443080-110443081	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561730080	chr2:110443137-110443138	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187813556	chr2:110443172-110443173	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs115278193	chr2:110443201-110443202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536702147	chr2:110443220-110443221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138801105	chr2:110443227-110443228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533387549	chr2:110443252-110443253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546997818	chr2:110443263-110443264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566990955	chr2:110443273-110443274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535572751	chr2:110443289-110443290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549407417	chr2:110443341-110443342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2004112	chr2:110443350-110443351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190776674	chr2:110443361-110443362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558050402	chr2:110443386-110443387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183094853	chr2:110443395-110443396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188557049	chr2:110443417-110443418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192724221	chr2:110443459-110443460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531069971	chr2:110443465-110443466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530588284	chr2:110443489-110443490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541564754	chr2:110443495-110443496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4953766	chr2:110443496-110443497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575526597	chr2:110443499-110443500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13010450	chr2:110443527-110443528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564403463	chr2:110443529-110443530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533251469	chr2:110443538-110443539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183118110	chr2:110443678-110443679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560286747	chr2:110443741-110443742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4953723	chr2:110443753-110443754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536477844	chr2:110443757-110443758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116090001	chr2:110443763-110443764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370187057	chr2:110443841-110443842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550250143	chr2:110443864-110443865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551543652	chr2:110443897-110443898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571647092	chr2:110443905-110443906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534218597	chr2:110443914-110443915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554399067	chr2:110443921-110443922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565682317	chr2:110443929-110443930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187727089	chr2:110443953-110443954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566475953	chr2:110443983-110443984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535397479	chr2:110443984-110443985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555194749	chr2:110443993-110443994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575391879	chr2:110444002-110444003	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544456478	chr2:110444012-110444013	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534718509	chr2:110444024-110444025	Weak transcription Enhancers Active TSS	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110434200-110447600	Weak transcription	Small Intestine	intestine
2	chr2:110435400-110443000	Weak transcription	Ovary	ovary
3	chr2:110436200-110443000	Weak transcription	Esophagus	oesophagus
4	chr2:110437200-110447400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:110438400-110443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:110438600-110446800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:110438800-110443000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:110439000-110447600	Weak transcription	Fetal Kidney	kidney
9	chr2:110439400-110443000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:110439400-110446800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:110439600-110443000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:110439600-110443000	Weak transcription	Left Ventricle	heart
13	chr2:110439600-110443000	Weak transcription	Lung	lung
14	chr2:110439600-110443000	Weak transcription	Pancreas	Pancrea
15	chr2:110439600-110443000	Weak transcription	Right Atrium	heart
16	chr2:110439600-110445800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:110439600-110447000	Weak transcription	Right Ventricle	heart
18	chr2:110439600-110456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:110440000-110443000	Weak transcription	Fetal Lung	lung
20	chr2:110440200-110443000	Weak transcription	Fetal Stomach	stomach
21	chr2:110441400-110445800	Weak transcription	Spleen	Spleen
22	chr2:110441400-110446800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:110441400-110447000	Weak transcription	Liver	Liver
24	chr2:110441400-110456600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:110442800-110444000	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:110442800-110444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:110442800-110445000	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:110442800-110448200	Enhancers	HepG2	liver
29	chr2:110442800-110453400	Enhancers	Colon Smooth Muscle	Colon
30	chr2:110443000-110443200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:110443000-110443200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:110443000-110443400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:110443000-110443400	Enhancers	Esophagus	oesophagus
34	chr2:110443000-110443400	Enhancers	Fetal Intestine Large	intestine
35	chr2:110443000-110443400	Enhancers	Left Ventricle	heart
36	chr2:110443000-110443400	Enhancers	Lung	lung
37	chr2:110443000-110443400	Enhancers	Ovary	ovary
38	chr2:110443000-110443400	Enhancers	Pancreas	Pancrea
39	chr2:110443000-110443400	Enhancers	Right Atrium	heart
40	chr2:110443000-110443600	Enhancers	Brain Germinal Matrix	brain
41	chr2:110443000-110443600	Enhancers	Fetal Intestine Small	intestine
42	chr2:110443000-110443600	Enhancers	Fetal Lung	lung
43	chr2:110443000-110444000	Enhancers	Fetal Heart	heart
44	chr2:110443000-110445000	Enhancers	Fetal Stomach	stomach
45	chr2:110443000-110446000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:110443200-110443400	Enhancers	GM12878-XiMat	blood
47	chr2:110443200-110447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:110443400-110444200	Weak transcription	Ovary	ovary
49	chr2:110443400-110446400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:110443400-110446400	Weak transcription	Fetal Intestine Large	intestine

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