Variant report

Variant	nsv979254
Chromosome Location	chr2:114118676-114119435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111561213	chr2:114118717-114118718	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549677742	chr2:114118752-114118753	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553137980	chr2:114118753-114118754	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572990803	chr2:114118824-114118825	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562513884	chr2:114118896-114118897	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375343922	chr2:114118903-114118904	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563063057	chr2:114118906-114118907	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531575650	chr2:114118942-114118943	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56320820	chr2:114118955-114118956	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144197247	chr2:114118982-114118983	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534350882	chr2:114119018-114119019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547629507	chr2:114119038-114119039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112593170	chr2:114119103-114119104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577385597	chr2:114119180-114119181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114101717	chr2:114119190-114119191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556920471	chr2:114119220-114119221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576838850	chr2:114119222-114119223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563555081	chr2:114119227-114119228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532585082	chr2:114119230-114119231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140394584	chr2:114119285-114119286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529221399	chr2:114119296-114119297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188445621	chr2:114119342-114119343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558630155	chr2:114119361-114119362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115145016	chr2:114119392-114119393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192856121	chr2:114119393-114119394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62158215	chr2:114119397-114119398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185434501	chr2:114119426-114119427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115919937	chr2:114119432-114119433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Malignant peripheral nerve sheath tumor	18522746	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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114110600-114124600	Weak transcription	A549	lung
3	chr2:114114400-114122600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:114115800-114120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:114116800-114119200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:114116800-114121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:114116800-114126200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:114117000-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:114117400-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:114117400-114126600	Weak transcription	NHEK	skin
11	chr2:114117600-114124400	Weak transcription	HMEC	breast
12	chr2:114118200-114118800	Enhancers	HSMM	muscle
13	chr2:114118400-114122600	Weak transcription	HSMMtube	muscle
14	chr2:114118600-114119000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:114118600-114120000	Enhancers	Lung	lung
16	chr2:114119200-114122000	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links