Variant report

Variant	nsv9891
Chromosome Location	chr2:58951097-58953857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58938609..58940326-chr2:58950137..58952423,2	K562	blood:
2	chr2:58944043..58945549-chr2:58950172..58951862,2	K562	blood:
3	chr2:58935937..58937842-chr2:58949736..58951617,2	K562	blood:
4	chr2:58945888..58951187-chr2:58955969..58958921,4	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189473940	chr2:58951098-58951099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs993531	chr2:58951109-58951110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552209964	chr2:58951113-58951114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181858740	chr2:58951147-58951148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2708149	chr2:58951187-58951188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544948265	chr2:58951218-58951219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185174177	chr2:58951230-58951231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188081414	chr2:58951254-58951255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549180881	chr2:58951265-58951266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372564683	chr2:58951297-58951298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567506319	chr2:58951314-58951315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17049707	chr2:58951327-58951328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547128049	chr2:58951333-58951334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181446754	chr2:58951352-58951353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550697877	chr2:58951389-58951390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539046819	chr2:58951399-58951400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555907082	chr2:58951402-58951403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557106392	chr2:58951414-58951415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569963039	chr2:58951420-58951421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112198296	chr2:58951423-58951424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569519110	chr2:58951457-58951458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538919554	chr2:58951534-58951535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536589281	chr2:58951538-58951539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200971890	chr2:58951580-58951581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147227095	chr2:58951587-58951588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558806034	chr2:58951597-58951598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573105134	chr2:58951610-58951611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116587158	chr2:58951626-58951627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77032580	chr2:58951657-58951658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142083921	chr2:58951695-58951696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186239221	chr2:58951698-58951699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530813167	chr2:58951765-58951766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191880446	chr2:58951768-58951769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375136653	chr2:58951811-58951812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561028139	chr2:58951826-58951827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151156547	chr2:58951840-58951841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554609947	chr2:58951883-58951884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547089367	chr2:58951894-58951895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571693608	chr2:58951904-58951905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532534302	chr2:58951979-58951980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17615638	chr2:58952050-58952051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs560115191	chr2:58952052-58952053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536500606	chr2:58952106-58952107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548482167	chr2:58952171-58952172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146612736	chr2:58952172-58952173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534143399	chr2:58952181-58952182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183255233	chr2:58952185-58952186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141364495	chr2:58952212-58952213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538392699	chr2:58952226-58952227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556909885	chr2:58952252-58952253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58941200-58954600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:58948400-58955200	Weak transcription	K562	blood
3	chr2:58948400-58960000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:58950200-58951200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:58951000-58951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:58951200-58951800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:58951600-58953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:58951800-58952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:58952800-58953200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:58953000-58953200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:58953200-58953600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:58953200-58954200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:58953600-58958000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links