Variant report

Variant	nsv829623
Chromosome Location	chr2:114640380-114641005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376937802	chr2:114640401-114640402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10204979	chr2:114640427-114640428	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78290409	chr2:114640438-114640439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76629848	chr2:114640451-114640452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186281488	chr2:114640461-114640462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538623486	chr2:114640470-114640471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13022223	chr2:114640484-114640485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559020669	chr2:114640506-114640507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7602149	chr2:114640568-114640569	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs190357375	chr2:114640589-114640590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7599403	chr2:114640616-114640617	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs373011204	chr2:114640620-114640621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575244752	chr2:114640656-114640657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73957418	chr2:114640660-114640661	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74494015	chr2:114640661-114640662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182232468	chr2:114640690-114640691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187200403	chr2:114640721-114640722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556618432	chr2:114640811-114640812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17040412	chr2:114640846-114640847	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528166727	chr2:114640876-114640877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559056344	chr2:114640906-114640907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13426411	chr2:114640940-114640941	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149933293	chr2:114640997-114640998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
2	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
3	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:114634400-114644200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:114634600-114642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:114634600-114644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:114634600-114644000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:114634600-114644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:114634600-114644000	Weak transcription	Pancreas	Pancrea
10	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:114634800-114644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:114635000-114644200	Weak transcription	Esophagus	oesophagus
15	chr2:114635400-114646000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:114635600-114643800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:114635600-114644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:114635600-114644400	Weak transcription	Fetal Brain Female	brain
19	chr2:114635600-114645800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:114635800-114644000	Weak transcription	Dnd41	blood
21	chr2:114636000-114642200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:114636000-114642600	Weak transcription	K562	blood
23	chr2:114636000-114642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:114636000-114643000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:114636000-114643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:114636000-114644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:114636000-114644000	Weak transcription	Small Intestine	intestine
28	chr2:114636000-114644000	Weak transcription	HUVEC	blood vessel
29	chr2:114636200-114643800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:114636200-114643800	Weak transcription	NH-A	brain
31	chr2:114636200-114643800	Weak transcription	Osteobl	bone
32	chr2:114636200-114644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:114636400-114641600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:114636400-114642400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:114636600-114640600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:114636600-114642600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:114636600-114643000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:114636600-114643800	Weak transcription	Fetal Lung	lung
39	chr2:114636600-114644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:114636800-114642400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:114636800-114642400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:114636800-114643200	Weak transcription	NHLF	lung
43	chr2:114636800-114643400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:114636800-114643800	Weak transcription	A549	lung
45	chr2:114636800-114643800	Weak transcription	HMEC	breast
46	chr2:114636800-114644200	Weak transcription	Left Ventricle	heart
47	chr2:114636800-114644600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:114636800-114645400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:114637000-114642200	Weak transcription	Fetal Stomach	stomach
50	chr2:114637000-114644000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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