Variant report

Variant	nsv819215
Chromosome Location	chr3:119434334-119435015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375655115	chr3:119434369-119434370	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370858430	chr3:119434373-119434374	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374047605	chr3:119434400-119434401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367898250	chr3:119434401-119434402	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375483032	chr3:119434403-119434404	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201703483	chr3:119434406-119434407	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142224777	chr3:119434411-119434412	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373269234	chr3:119434412-119434413	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150795242	chr3:119434426-119434427	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369945433	chr3:119434433-119434434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145890924	chr3:119434441-119434442	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560430820	chr3:119434475-119434476	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373361814	chr3:119434495-119434496	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565776294	chr3:119434506-119434507	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199907538	chr3:119434520-119434521	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139064408	chr3:119434522-119434523	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6438544	chr3:119434527-119434528	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201993047	chr3:119434533-119434534	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550236089	chr3:119434542-119434543	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568392472	chr3:119434554-119434555	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147597066	chr3:119434591-119434592	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376518542	chr3:119434626-119434627	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373510470	chr3:119434642-119434643	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535856324	chr3:119434651-119434652	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547431789	chr3:119434655-119434656	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565979983	chr3:119434685-119434686	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527255389	chr3:119434739-119434740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574692849	chr3:119434767-119434768	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185798118	chr3:119434769-119434770	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113394542	chr3:119434777-119434778	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576288345	chr3:119434785-119434786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543182104	chr3:119434792-119434793	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536772465	chr3:119434819-119434820	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555460416	chr3:119434844-119434845	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573622263	chr3:119434922-119434923	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541031591	chr3:119434946-119434947	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190367559	chr3:119434973-119434974	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371531776	chr3:119435004-119435005	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119422200-119458200	Weak transcription	Aorta	Aorta
2	chr3:119422600-119435600	Weak transcription	Pancreas	Pancrea
3	chr3:119422800-119440000	Weak transcription	Brain Angular Gyrus	brain
4	chr3:119423000-119435000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:119423000-119463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:119423000-119464400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:119423200-119436000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:119423200-119464200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:119423200-119471600	Weak transcription	Fetal Kidney	kidney
10	chr3:119423400-119435800	Weak transcription	Ovary	ovary
11	chr3:119423400-119458200	Weak transcription	Brain Substantia Nigra	brain
12	chr3:119423800-119449000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:119428800-119469200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:119431000-119435200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:119431200-119470400	Weak transcription	Gastric	stomach
16	chr3:119432200-119434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:119432600-119436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:119433600-119437000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:119433800-119435800	Enhancers	HepG2	liver
20	chr3:119433800-119437200	Enhancers	Liver	Liver
21	chr3:119434000-119434800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:119434000-119434800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:119434000-119437400	Enhancers	Fetal Intestine Large	intestine
24	chr3:119434200-119434800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:119434200-119435200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:119434200-119436600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:119434200-119436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:119434200-119438200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:119434400-119434600	Enhancers	Small Intestine	intestine
30	chr3:119434400-119435000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:119434600-119436800	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:119434800-119435200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:119434800-119436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:119434800-119438000	Weak transcription	Fetal Stomach	stomach
35	chr3:119435000-119435400	Strong transcription	Colon Smooth Muscle	Colon
36	chr3:119435000-119438800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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