Variant report

Variant	nsv962057
Chromosome Location	chr2:7406316-7411184
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	chr2:7410454..7413137-chr2:7415819..7418028,2	K562	blood:

Extended variants
information (count: 244 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143781878	chr2:7406332-7406333	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187976929	chr2:7406356-7406357	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs768447	chr2:7406365-7406366	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs192012352	chr2:7406416-7406417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565878048	chr2:7406432-7406433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534198256	chr2:7406452-7406453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553026021	chr2:7406509-7406510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547818023	chr2:7406522-7406523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184568032	chr2:7406550-7406551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377469597	chr2:7406556-7406557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35773457	chr2:7406581-7406582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536762899	chr2:7406610-7406611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141335369	chr2:7406624-7406625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576560994	chr2:7406647-7406648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557257408	chr2:7406672-7406673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538902880	chr2:7406678-7406679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145061605	chr2:7406693-7406694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138843526	chr2:7406705-7406706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540583280	chr2:7406717-7406718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186991283	chr2:7406737-7406738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574167999	chr2:7406756-7406757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12472309	chr2:7406826-7406827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78821236	chr2:7406881-7406882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532328354	chr2:7406908-7406909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16866047	chr2:7406913-7406914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559555304	chr2:7406929-7406930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528407676	chr2:7406947-7406948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17629193	chr2:7406992-7406993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs567641591	chr2:7406993-7406994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536676371	chr2:7407013-7407014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12473129	chr2:7407038-7407039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184314531	chr2:7407061-7407062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12692333	chr2:7407069-7407070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558893146	chr2:7407094-7407095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141957635	chr2:7407106-7407107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535008211	chr2:7407111-7407112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554872679	chr2:7407132-7407133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574080037	chr2:7407136-7407137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543056513	chr2:7407153-7407154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557018511	chr2:7407155-7407156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150823372	chr2:7407164-7407165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545945391	chr2:7407282-7407283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559302890	chr2:7407301-7407302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375682851	chr2:7407324-7407325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542127876	chr2:7407334-7407335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562001065	chr2:7407342-7407343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530112482	chr2:7407382-7407383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189598074	chr2:7407413-7407414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182012381	chr2:7407426-7407427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570091557	chr2:7407433-7407434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7400200-7410000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:7400200-7428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:7404000-7414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:7404800-7406600	Enhancers	Fetal Brain Male	brain
5	chr2:7405400-7410200	Weak transcription	Fetal Brain Female	brain
6	chr2:7406200-7406400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:7406600-7407600	Weak transcription	Fetal Brain Male	brain
8	chr2:7407600-7408200	Enhancers	Fetal Brain Male	brain
9	chr2:7408000-7408600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:7408000-7408600	Enhancers	Fetal Stomach	stomach
11	chr2:7408200-7410000	Weak transcription	Fetal Brain Male	brain
12	chr2:7408400-7408600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:7410000-7410200	Enhancers	Fetal Brain Male	brain
14	chr2:7410000-7410400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:7410000-7410400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:7410000-7410600	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:7410200-7410600	Enhancers	Fetal Brain Female	brain

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