Variant report

Variant	esv3460436
Chromosome Location	chr2:36836092-36840662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36832279..36835040-chr2:36835404..36839522,4	K562	blood:
2	chr18:12492408..12492934-chr2:36835622..36836122,2	Hela-S3	cervix:
3	chr2:36832118..36833779-chr2:36837070..36839522,2	K562	blood:
4	chr2:36822925..36827633-chr2:36831305..36836913,8	MCF-7	breast:
5	chr2:36823117..36826552-chr2:36831110..36836877,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171055	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs565886131	chr2:36836104-36836105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112252913	chr2:36836105-36836106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191320829	chr2:36836118-36836119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551862906	chr2:36836132-36836133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9967785	chr2:36836144-36836145	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537143320	chr2:36836205-36836206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552895627	chr2:36836224-36836225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555370680	chr2:36836230-36836231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183078688	chr2:36836235-36836236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535342661	chr2:36836251-36836252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553363263	chr2:36836304-36836305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187842848	chr2:36836337-36836338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528753876	chr2:36836376-36836377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545233429	chr2:36836497-36836498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147578812	chr2:36836550-36836551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545220781	chr2:36836576-36836577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576253529	chr2:36836582-36836583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543526150	chr2:36836624-36836625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140302270	chr2:36836655-36836656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144252976	chr2:36836696-36836697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541318578	chr2:36836721-36836722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147769287	chr2:36836757-36836758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148912330	chr2:36836799-36836800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560417421	chr2:36836804-36836805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551333027	chr2:36836807-36836808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143591911	chr2:36836834-36836835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192836359	chr2:36836837-36836838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150989733	chr2:36836855-36836856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140811191	chr2:36836911-36836912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534663981	chr2:36836920-36836921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75502486	chr2:36836926-36836927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571889421	chr2:36836931-36836932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185395047	chr2:36837004-36837005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189558598	chr2:36837061-36837062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534611355	chr2:36837095-36837096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192990651	chr2:36837169-36837170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79218204	chr2:36837178-36837179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184204013	chr2:36837188-36837189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114191657	chr2:36837206-36837207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573588695	chr2:36837225-36837226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188093029	chr2:36837242-36837243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150431716	chr2:36837243-36837244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577886811	chr2:36837327-36837328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545274521	chr2:36837336-36837337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568266467	chr2:36837356-36837357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180942933	chr2:36837368-36837369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530590901	chr2:36837405-36837406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549068917	chr2:36837408-36837409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548973888	chr2:36837461-36837462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77072388	chr2:36837493-36837494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36835400-36837000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:36835400-36842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:36835800-36842000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:36836600-36837000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:36836600-36837000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:36837000-36837400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:36837000-36837400	Enhancers	Brain Germinal Matrix	brain
8	chr2:36837000-36837400	Enhancers	Small Intestine	intestine
9	chr2:36837000-36840600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:36837000-36841600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:36837400-36841200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:36837800-36839000	Enhancers	Placenta	Placenta
13	chr2:36838200-36838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:36838400-36838600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:36838400-36839000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:36838600-36842200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:36838800-36841200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:36839000-36841200	Weak transcription	Placenta	Placenta
19	chr2:36839600-36839800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:36840200-36841400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:36840600-36841800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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