Variant report

Variant	nsv1010517
Chromosome Location	chr2:34699315-34754959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
2	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:

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

Extended variants
information (count: 1006 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377601143	chr2:34699803-34699804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7594384	chr2:34699812-34699813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554363448	chr2:34699839-34699840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574425940	chr2:34699917-34699918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543161859	chr2:34699926-34699927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12105100	chr2:34699931-34699932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534302102	chr2:34699980-34699981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7608523	chr2:34700000-34700001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565278490	chr2:34700002-34700003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80194321	chr2:34700003-34700004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541372035	chr2:34700016-34700017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561136911	chr2:34700036-34700037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530177857	chr2:34700076-34700077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550025893	chr2:34700078-34700079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563473915	chr2:34700088-34700089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532380987	chr2:34700141-34700142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150976711	chr2:34700147-34700148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192183236	chr2:34700197-34700198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184961754	chr2:34700221-34700222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548127933	chr2:34700225-34700226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7597428	chr2:34700236-34700237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10865100	chr2:34700291-34700292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374185288	chr2:34700292-34700293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71411407	chr2:34700296-34700297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71411408	chr2:34700306-34700307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114725194	chr2:34700323-34700324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187788558	chr2:34700371-34700372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13394705	chr2:34700390-34700391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367671169	chr2:34700438-34700439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34193873	chr2:34700545-34700546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556573289	chr2:34700551-34700552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113264338	chr2:34700558-34700559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541374586	chr2:34700575-34700576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192126550	chr2:34700659-34700660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184296679	chr2:34700687-34700688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12479295	chr2:34700731-34700732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545772144	chr2:34700741-34700742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563815727	chr2:34700751-34700752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564318237	chr2:34700840-34700841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10211240	chr2:34700869-34700870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs367922975	chr2:34700907-34700908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561412775	chr2:34700918-34700919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559598674	chr2:34700923-34700924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528353690	chr2:34700925-34700926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548209923	chr2:34700926-34700927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377640501	chr2:34701007-34701008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556573341	chr2:34701010-34701011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34474987	chr2:34701011-34701012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397869721	chr2:34701024-34701025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200434352	chr2:34701025-34701026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34699800-34700600	Enhancers	Fetal Kidney	kidney
2	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
3	chr2:34702600-34703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34703400-34706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:34706000-34706200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:34706200-34708000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:34708000-34708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
9	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
10	chr2:34712000-34713000	Enhancers	Fetal Lung	lung
11	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:34713000-34714600	Weak transcription	Fetal Lung	lung
13	chr2:34714600-34715000	Enhancers	Fetal Lung	lung
14	chr2:34715000-34716600	Weak transcription	Fetal Lung	lung
15	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
16	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
17	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
18	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
19	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
20	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
21	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
22	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
23	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
24	chr2:34720800-34721200	Enhancers	Fetal Lung	lung
25	chr2:34744400-34744600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:34744800-34746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:34749200-34749600	Enhancers	NHEK	skin
28	chr2:34749200-34749800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:34752200-34752400	Enhancers	Fetal Kidney	kidney
30	chr2:34752400-34753200	Weak transcription	Fetal Kidney	kidney
31	chr2:34752800-34753200	Enhancers	Fetal Intestine Large	intestine
32	chr2:34753200-34753600	Enhancers	Fetal Intestine Small	intestine
33	chr2:34753200-34753600	Enhancers	Fetal Kidney	kidney
34	chr2:34753400-34753800	Enhancers	Fetal Intestine Large	intestine
35	chr2:34753600-34758800	Weak transcription	Fetal Kidney	kidney
36	chr2:34753600-34759000	Weak transcription	Fetal Intestine Small	intestine

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