Variant report

Variant	esv3443632
Chromosome Location	chr2:134536282-134540980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134537647..134538432-chr2:134601781..134602476,2	MCF-7	breast:
2	chr2:134020760..134021325-chr2:134537400..134538161,2	K562	blood:
3	chr2:134325618..134326196-chr2:134537643..134538147,2	MCF-7	breast:
4	chr2:134537299..134538123-chrX:12522089..12522834,2	MCF-7	breast:
5	chr2:134277436..134277987-chr2:134537073..134537950,2	MCF-7	breast:
6	chr2:134020208..134021163-chr2:134537454..134538295,5	MCF-7	breast:
7	chr2:134529817..134532379-chr2:134535821..134537604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176771	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552372851	chr2:134536302-134536303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145470393	chr2:134536306-134536307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537379991	chr2:134536343-134536344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72843280	chr2:134536352-134536353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148839896	chr2:134536383-134536384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183952080	chr2:134536385-134536386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536680016	chr2:134536398-134536399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111439815	chr2:134536406-134536407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56724378	chr2:134536428-134536429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375525195	chr2:134536435-134536436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187656840	chr2:134536467-134536468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57021484	chr2:134536496-134536497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143499825	chr2:134536498-134536499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72843283	chr2:134536516-134536517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150968155	chr2:134536546-134536547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72843284	chr2:134536550-134536551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191272958	chr2:134536582-134536583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541443258	chr2:134536583-134536584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563112556	chr2:134536595-134536596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575525607	chr2:134536643-134536644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77960569	chr2:134536645-134536646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545817167	chr2:134536675-134536676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78231258	chr2:134536715-134536716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140992286	chr2:134536724-134536725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79729785	chr2:134536726-134536727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13015553	chr2:134536779-134536780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs57801195	chr2:134536802-134536803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548603623	chr2:134536808-134536809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35716511	chr2:134536809-134536810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537445113	chr2:134536833-134536834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187341778	chr2:134536948-134536949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571103735	chr2:134536954-134536955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534924148	chr2:134536967-134536968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570139164	chr2:134537010-134537011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371634075	chr2:134537146-134537147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553119199	chr2:134537157-134537158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537657727	chr2:134537173-134537174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76340201	chr2:134537235-134537236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535132589	chr2:134537251-134537252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557008177	chr2:134537285-134537286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575196172	chr2:134537296-134537297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144805501	chr2:134537321-134537322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138743222	chr2:134537332-134537333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373171176	chr2:134537348-134537349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564255273	chr2:134537377-134537378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551039553	chr2:134537455-134537456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141866336	chr2:134537517-134537518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73007654	chr2:134537548-134537549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561817108	chr2:134537563-134537564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72843286	chr2:134537582-134537583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134524600-134537200	Weak transcription	NHLF	lung
2	chr2:134532200-134537000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134532600-134537400	Weak transcription	NH-A	brain
4	chr2:134532800-134537200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134532800-134537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134532800-134537400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:134533000-134537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:134533000-134537400	Weak transcription	Fetal Brain Male	brain
9	chr2:134533000-134537600	Weak transcription	Fetal Lung	lung
10	chr2:134535400-134537200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:134535400-134537400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:134535400-134537400	Weak transcription	Fetal Heart	heart
13	chr2:134535400-134537400	Weak transcription	Osteobl	bone
14	chr2:134535400-134544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:134535600-134536800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:134535800-134537800	Weak transcription	Liver	Liver
17	chr2:134536800-134537600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:134537000-134537800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:134537000-134537800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:134537000-134537800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:134537200-134537800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:134537200-134538200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:134537200-134538600	Enhancers	NHLF	lung
24	chr2:134537400-134537600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:134537400-134537800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:134537400-134537800	Enhancers	Fetal Brain Male	brain
27	chr2:134537400-134538000	Enhancers	NH-A	brain
28	chr2:134537400-134538200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:134537400-134538200	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:134537400-134538200	Enhancers	Fetal Heart	heart
31	chr2:134537400-134538200	Enhancers	Osteobl	bone
32	chr2:134537600-134537800	Enhancers	Hela-S3	cervix
33	chr2:134537600-134538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:134537600-134538400	Enhancers	Fetal Lung	lung
35	chr2:134537800-134538200	Enhancers	Liver	Liver
36	chr2:134537800-134539200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:134538000-134538200	Enhancers	Fetal Kidney	kidney
38	chr2:134538000-134538600	Enhancers	NHDF-Ad	bronchial
39	chr2:134538200-134539000	ZNF genes & repeats	Fetal Kidney	kidney
40	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
41	chr2:134540000-134542600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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