Variant report

Variant	nsv979315
Chromosome Location	chr2:114810168-114825578
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	chr2:114825429..114827608-chr2:114831358..114833425,2	K562	blood:

Extended variants
information (count: 187 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185611705	chr2:114813626-114813627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530320721	chr2:114813644-114813645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549793528	chr2:114813660-114813661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569311840	chr2:114813695-114813696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190471020	chr2:114813709-114813710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112414995	chr2:114813742-114813743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142924604	chr2:114813748-114813749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4082442	chr2:114813750-114813751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565405785	chr2:114813755-114813756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143448328	chr2:114813858-114813859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554449443	chr2:114813879-114813880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370053881	chr2:114813896-114813897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114633659	chr2:114813902-114813903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574715089	chr2:114813996-114813997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529807845	chr2:114814001-114814002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147158927	chr2:114814038-114814039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139522412	chr2:114814057-114814058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576524212	chr2:114814071-114814072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545396252	chr2:114814108-114814109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185891200	chr2:114814147-114814148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149286255	chr2:114814182-114814183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10204315	chr2:114814190-114814191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541652269	chr2:114814214-114814215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144548790	chr2:114814243-114814244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13416289	chr2:114814255-114814256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566400450	chr2:114814285-114814286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550216450	chr2:114814301-114814302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370248422	chr2:114814436-114814437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563605170	chr2:114814501-114814502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534202955	chr2:114814536-114814537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201589710	chr2:114814537-114814538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139124878	chr2:114814538-114814539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79194489	chr2:114814551-114814552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111708475	chr2:114814615-114814616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551739440	chr2:114814644-114814645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565441695	chr2:114814651-114814652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565469577	chr2:114814683-114814684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149609245	chr2:114814798-114814799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398104624	chr2:114814801-114814802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34134787	chr2:114814810-114814811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74182872	chr2:114814813-114814814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74182873	chr2:114814815-114814816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74182874	chr2:114814817-114814818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74182875	chr2:114814819-114814820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10199104	chr2:114814829-114814830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557314555	chr2:114814833-114814834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199785014	chr2:114814840-114814841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560911864	chr2:114814915-114814916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114969132	chr2:114814948-114814949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539072265	chr2:114814957-114814958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114813600-114814200	Enhancers	GM12878-XiMat	blood
2	chr2:114813800-114814000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:114813800-114815200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:114814000-114814200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:114814200-114815200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:114815200-114815600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr2:114815200-114816000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:114815200-114816000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:114815600-114816000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:114820400-114821000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:114820400-114821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:114820600-114821000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:114820600-114821000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:114820600-114821000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:114820600-114821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:114820800-114821200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:114820800-114821800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:114820800-114822000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:114823400-114824000	Enhancers	Liver	Liver
20	chr2:114823400-114824200	Enhancers	Pancreas	Pancrea
21	chr2:114823600-114823800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:114823600-114823800	Bivalent Enhancer	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links