Variant report

Variant	esv3426939
Chromosome Location	chr2:134033182-134038980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134038890..134041623-chr2:134041735..134044144,2	MCF-7	breast:
2	chr2:134028269..134031265-chr2:134033002..134035310,2	MCF-7	breast:
3	chr2:134031322..134033202-chr2:134041949..134044223,2	MCF-7	breast:
4	chr2:134033733..134036491-chr2:134192911..134194605,2	MCF-7	breast:
5	chr2:134035082..134037430-chr2:134042512..134044195,2	MCF-7	breast:

Extended variants
information (count: 206 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs186095704	chr2:134033200-134033201	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542775402	chr2:134033201-134033202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554508951	chr2:134033248-134033249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552174387	chr2:134033258-134033259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549459778	chr2:134033265-134033266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192164344	chr2:134033341-134033342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543658715	chr2:134033375-134033376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78539585	chr2:134033376-134033377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532732488	chr2:134033393-134033394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1430170	chr2:134033399-134033400	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147657384	chr2:134033417-134033418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546329980	chr2:134033444-134033445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142290822	chr2:134033486-134033487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1430169	chr2:134033487-134033488	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146101314	chr2:134033507-134033508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557175247	chr2:134033509-134033510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182177543	chr2:134033551-134033552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530517937	chr2:134033604-134033605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576030538	chr2:134033612-134033613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570711674	chr2:134033635-134033636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34269253	chr2:134033636-134033637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534640465	chr2:134033651-134033652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112457798	chr2:134033666-134033667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138857151	chr2:134033679-134033680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75784344	chr2:134033682-134033683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536305849	chr2:134033688-134033689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554643977	chr2:134033778-134033779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576174280	chr2:134033795-134033796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537036448	chr2:134033894-134033895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558560940	chr2:134033910-134033911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570592831	chr2:134033912-134033913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543498559	chr2:134033955-134033956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541378914	chr2:134033982-134033983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16823003	chr2:134034022-134034023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556484512	chr2:134034026-134034027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542489241	chr2:134034028-134034029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534852677	chr2:134034111-134034112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539326042	chr2:134034122-134034123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576671634	chr2:134034126-134034127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138741070	chr2:134034135-134034136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6430406	chr2:134034144-134034145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530657752	chr2:134034229-134034230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1367208	chr2:134034240-134034241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552182765	chr2:134034241-134034242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563946241	chr2:134034249-134034250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528353328	chr2:134034262-134034263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150334259	chr2:134034282-134034283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568200336	chr2:134034328-134034329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535264346	chr2:134034362-134034363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36060523	chr2:134034378-134034379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134025200-134035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134028200-134042200	Weak transcription	Hela-S3	cervix
3	chr2:134031000-134035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:134031200-134035600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134031800-134033200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:134033200-134033800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:134035400-134035600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:134035600-134036000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:134035600-134036800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:134035600-134037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:134035800-134036200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:134036000-134043800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:134036200-134042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134036800-134039200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:134038000-134042000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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