Variant report

Variant	nsv874893
Chromosome Location	chr2:113807021-113810121
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	chr2:113808741..113811211-chr2:113813910..113818157,4	K562	blood:
2	chr2:113808473..113809153-chr2:113816777..113817326,2	K562	blood:

Variant related genes	Relation type
ENSG00000136695	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs34248406	chr2:113807021-113807022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151036313	chr2:113807142-113807143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34919131	chr2:113807144-113807145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369758801	chr2:113807220-113807221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578051111	chr2:113807252-113807253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546123598	chr2:113807255-113807256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541455200	chr2:113807258-113807259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190141708	chr2:113807274-113807275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150372997	chr2:113807290-113807291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138095302	chr2:113807298-113807299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561662432	chr2:113807307-113807308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182317080	chr2:113807334-113807335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371908598	chr2:113807351-113807352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552849550	chr2:113807382-113807383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559474562	chr2:113807394-113807395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570115556	chr2:113807400-113807401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34491153	chr2:113807401-113807402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186530051	chr2:113807406-113807407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189560056	chr2:113807439-113807440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368815694	chr2:113807456-113807457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371553284	chr2:113807472-113807473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374698312	chr2:113807473-113807474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375654347	chr2:113807475-113807476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370582095	chr2:113807479-113807480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369335253	chr2:113807485-113807486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371521046	chr2:113807486-113807487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375210240	chr2:113807488-113807489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180748332	chr2:113807489-113807490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62157693	chr2:113807584-113807585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138599498	chr2:113807626-113807627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117588022	chr2:113807638-113807639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185363173	chr2:113807650-113807651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568560302	chr2:113807736-113807737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372948092	chr2:113807737-113807738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149268541	chr2:113807805-113807806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191239952	chr2:113807829-113807830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578078635	chr2:113807830-113807831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386649276	chr2:113807831-113807832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4603767	chr2:113807833-113807834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573075055	chr2:113807837-113807838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573094650	chr2:113807870-113807871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62157694	chr2:113807883-113807884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558797740	chr2:113807908-113807909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76521328	chr2:113807911-113807912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201281655	chr2:113807923-113807924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573515717	chr2:113807925-113807926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199728076	chr2:113807927-113807928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398060460	chr2:113807931-113807932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111836516	chr2:113807933-113807934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575476875	chr2:113807938-113807939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113806000-113808600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:113806000-113809000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:113808400-113808800	Weak transcription	Right Atrium	heart
4	chr2:113808600-113811600	Enhancers	Fetal Intestine Large	intestine
5	chr2:113809000-113809200	Enhancers	Fetal Intestine Small	intestine
6	chr2:113809000-113809200	ZNF genes & repeats	Right Atrium	heart
7	chr2:113809200-113809600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113809400-113813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113809600-113811200	Enhancers	Fetal Intestine Small	intestine

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