Variant report

Variant	esv3411935
Chromosome Location	chr2:78762144-78765442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
2	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
3	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
4	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
5	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
6	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
7	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
8	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
9	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:

No data

Extended variants
information (count: 112 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397872018	chr2:78762157-78762158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563460330	chr2:78762161-78762162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532430004	chr2:78762217-78762218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191286631	chr2:78762220-78762221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565825133	chr2:78762228-78762229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10192197	chr2:78762263-78762264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143062078	chr2:78762290-78762291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568554363	chr2:78762294-78762295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535834309	chr2:78762387-78762388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537472439	chr2:78762394-78762395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183724042	chr2:78762417-78762418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571098597	chr2:78762437-78762438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548505416	chr2:78762509-78762510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146140457	chr2:78762525-78762526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553295373	chr2:78762526-78762527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566653391	chr2:78762545-78762546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138970602	chr2:78762625-78762626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534426675	chr2:78762685-78762686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537189442	chr2:78762691-78762692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189957777	chr2:78762721-78762722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574172911	chr2:78762733-78762734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558317976	chr2:78762814-78762815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78284099	chr2:78762862-78762863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563283688	chr2:78762907-78762908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181268868	chr2:78762949-78762950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149395525	chr2:78762952-78762953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570280166	chr2:78763016-78763017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559606166	chr2:78763059-78763060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528331421	chr2:78763063-78763064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114846507	chr2:78763081-78763082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537967713	chr2:78763136-78763137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562213797	chr2:78763147-78763148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79419813	chr2:78763158-78763159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539310670	chr2:78763202-78763203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189833266	chr2:78763272-78763273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570779209	chr2:78763283-78763284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181894176	chr2:78763343-78763344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144511396	chr2:78763345-78763346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186154832	chr2:78763362-78763363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199690744	chr2:78763375-78763376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71385219	chr2:78763376-78763377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369678419	chr2:78763377-78763378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566807457	chr2:78763382-78763383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535680552	chr2:78763467-78763468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189784142	chr2:78763474-78763475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574230556	chr2:78763500-78763501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537107052	chr2:78763588-78763589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201158260	chr2:78763611-78763612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10195905	chr2:78763618-78763619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576740242	chr2:78763631-78763632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78760600-78762400	Weak transcription	HepG2	liver
2	chr2:78761000-78767400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:78761200-78767200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:78761400-78762400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:78762400-78762600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:78762400-78765200	Enhancers	HepG2	liver
7	chr2:78764200-78769200	Active TSS	K562	blood
8	chr2:78765200-78766400	Flanking Active TSS	HepG2	liver
9	chr2:78765400-78766000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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