Variant report

Variant	nsv1012508
Chromosome Location	chr2:34681494-34727855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
2	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
3	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033

Extended variants
information (count: 1098 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2139476	chr2:34681494-34681495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113381614	chr2:34681531-34681532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533373127	chr2:34681547-34681548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540694414	chr2:34681569-34681570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556650706	chr2:34681634-34681635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186573989	chr2:34681683-34681684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549192488	chr2:34681685-34681686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191025968	chr2:34681712-34681713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531458706	chr2:34681813-34681814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183839869	chr2:34681820-34681821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs72788782	chr2:34681848-34681849	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376592404	chr2:34681849-34681850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149377433	chr2:34681850-34681851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111291472	chr2:34681903-34681904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557958807	chr2:34681913-34681914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151309968	chr2:34681974-34681975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62166369	chr2:34682014-34682015	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192615800	chr2:34682068-34682069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183417411	chr2:34682086-34682087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555974356	chr2:34682113-34682114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs187781135	chr2:34682136-34682137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140168060	chr2:34682137-34682138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558500705	chr2:34682138-34682139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576593706	chr2:34682144-34682145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs578049499	chr2:34682148-34682149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540655560	chr2:34682163-34682164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560364830	chr2:34682170-34682171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529438793	chr2:34682188-34682189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542761177	chr2:34682193-34682194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562663735	chr2:34682195-34682196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191440952	chr2:34682204-34682205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551234230	chr2:34682212-34682213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571236782	chr2:34682216-34682217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550175128	chr2:34682217-34682218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527277073	chr2:34682226-34682227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547410336	chr2:34682230-34682231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184137737	chr2:34682287-34682288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540561065	chr2:34682301-34682302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs114867945	chr2:34682317-34682318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555994319	chr2:34682358-34682359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557110271	chr2:34682359-34682360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190002456	chr2:34682367-34682368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538461018	chr2:34682408-34682409	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74941940	chr2:34682410-34682411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371287993	chr2:34682445-34682446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562320102	chr2:34682504-34682505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192701960	chr2:34682508-34682509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532907710	chr2:34682546-34682547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575224090	chr2:34682547-34682548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573962561	chr2:34682554-34682555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34677000-34683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:34681600-34684200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:34682800-34685400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34683600-34684400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:34683800-34684800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:34683800-34685600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:34684200-34684400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr2:34689000-34689800	Enhancers	Fetal Lung	lung
9	chr2:34691400-34691600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:34691800-34692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:34699800-34700600	Enhancers	Fetal Kidney	kidney
12	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
13	chr2:34702600-34703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:34703400-34706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:34706000-34706200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34706200-34708000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:34708000-34708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
19	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
20	chr2:34712000-34713000	Enhancers	Fetal Lung	lung
21	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:34713000-34714600	Weak transcription	Fetal Lung	lung
23	chr2:34714600-34715000	Enhancers	Fetal Lung	lung
24	chr2:34715000-34716600	Weak transcription	Fetal Lung	lung
25	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
26	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
27	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
28	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
29	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
30	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
31	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
32	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
33	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
34	chr2:34720800-34721200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links