Variant report

Variant	nsv1006523
Chromosome Location	chr2:185295690-185350943
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
2	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
3	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
4	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
5	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
6	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
7	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
8	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
9	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
10	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
11	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
12	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
13	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
14	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
15	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
16	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
17	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
18	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
19	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
20	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
21	chr2:45032907..45033761-chr2:185301029..185301683,2	MCF-7	breast:
22	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
23	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
24	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
25	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:

No data

Extended variants
information (count: 856 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139184757	chr2:185295834-185295835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566083703	chr2:185295863-185295864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13007491	chr2:185295893-185295894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75879088	chr2:185295958-185295959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116733151	chr2:185296009-185296010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537697167	chr2:185296067-185296068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111262052	chr2:185296082-185296083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77093911	chr2:185296095-185296096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13031180	chr2:185296097-185296098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553814959	chr2:185296132-185296133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186815036	chr2:185296140-185296141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542730061	chr2:185296153-185296154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560885008	chr2:185296218-185296219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191241556	chr2:185296223-185296224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543269060	chr2:185296256-185296257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13008156	chr2:185296258-185296259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150562098	chr2:185296325-185296326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13031629	chr2:185296336-185296337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559716661	chr2:185296338-185296339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73039226	chr2:185296350-185296351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548669713	chr2:185296359-185296360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570214930	chr2:185296452-185296453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537688409	chr2:185296453-185296454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374194353	chr2:185296477-185296478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139660692	chr2:185296535-185296536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571195606	chr2:185296562-185296563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188424836	chr2:185306001-185306002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555495863	chr2:185306007-185306008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573908475	chr2:185306024-185306025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544495940	chr2:185306056-185306057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556632690	chr2:185306061-185306062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575156851	chr2:185306110-185306111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181589227	chr2:185306132-185306133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185998985	chr2:185306135-185306136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564124236	chr2:185306171-185306172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565092430	chr2:185306192-185306193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551449637	chr2:185306402-185306403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10178387	chr2:185306422-185306423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533991812	chr2:185306448-185306449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377172977	chr2:185306481-185306482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567518707	chr2:185306506-185306507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538078330	chr2:185306511-185306512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544304855	chr2:185306544-185306545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556801569	chr2:185306594-185306595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143737958	chr2:185306596-185306597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539341146	chr2:185306658-185306659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200234565	chr2:185306673-185306674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369159027	chr2:185306698-185306699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372516009	chr2:185306759-185306760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572885222	chr2:185306818-185306819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185295800-185296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:185306000-185306200	Enhancers	GM12878-XiMat	blood
3	chr2:185306400-185307600	Weak transcription	GM12878-XiMat	blood
4	chr2:185307600-185308200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:185307600-185308400	Enhancers	GM12878-XiMat	blood
6	chr2:185308200-185308600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:185308400-185308800	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:185308600-185309000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:185308800-185309400	Active TSS	GM12878-XiMat	blood
10	chr2:185309000-185309400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:185309400-185309800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:185309400-185309800	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:185309800-185310400	Enhancers	GM12878-XiMat	blood
14	chr2:185310400-185315800	Weak transcription	GM12878-XiMat	blood
15	chr2:185315800-185317800	Enhancers	GM12878-XiMat	blood
16	chr2:185317800-185318200	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:185325200-185325800	Enhancers	K562	blood
18	chr2:185325800-185326000	Weak transcription	K562	blood
19	chr2:185326000-185327000	Active TSS	K562	blood
20	chr2:185326600-185326800	Enhancers	Fetal Intestine Small	intestine
21	chr2:185326600-185327600	Enhancers	Fetal Intestine Large	intestine
22	chr2:185326800-185327400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:185326800-185327600	Enhancers	Liver	Liver
24	chr2:185327000-185327800	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:185327400-185327800	Enhancers	Fetal Intestine Small	intestine
26	chr2:185327600-185328200	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr2:185327600-185328400	Flanking Active TSS	Liver	Liver
28	chr2:185327600-185328800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:185327800-185328200	Active TSS	Duodenum Mucosa	Duodenum
30	chr2:185327800-185328200	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr2:185327800-185328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:185327800-185328400	Enhancers	HepG2	liver
33	chr2:185328000-185328600	Enhancers	Pancreas	Pancrea
34	chr2:185328200-185328400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:185328200-185328400	Enhancers	Fetal Intestine Large	intestine
36	chr2:185328200-185331200	Weak transcription	Fetal Intestine Small	intestine
37	chr2:185328400-185328800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:185328400-185329600	Enhancers	Liver	Liver
39	chr2:185328600-185329000	Weak transcription	Pancreas	Pancrea
40	chr2:185328800-185329400	Enhancers	Fetal Intestine Large	intestine
41	chr2:185329000-185329200	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:185329000-185329400	Enhancers	Pancreas	Pancrea
43	chr2:185331200-185331400	Enhancers	Fetal Intestine Small	intestine
44	chr2:185336800-185337800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:185337200-185337800	Enhancers	Fetal Intestine Small	intestine
46	chr2:185341200-185341800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:185344200-185348400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:185346800-185347200	Enhancers	Fetal Intestine Small	intestine

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