Variant report

Variant	esv3395016
Chromosome Location	chr2:141729582-141731780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7586607	chr2:141729597-141729598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146536711	chr2:141729633-141729634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116516416	chr2:141729643-141729644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191384562	chr2:141729644-141729645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544328148	chr2:141729686-141729687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564385881	chr2:141729698-141729699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372176216	chr2:141729721-141729722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182482548	chr2:141729729-141729730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560151345	chr2:141729744-141729745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528900347	chr2:141729780-141729781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140036121	chr2:141729812-141729813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78638113	chr2:141729855-141729856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10201482	chr2:141729899-141729900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10201500	chr2:141729958-141729959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571038282	chr2:141730002-141730003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528040939	chr2:141730003-141730004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75988504	chr2:141730052-141730053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553631077	chr2:141730062-141730063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369222934	chr2:141730107-141730108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572896068	chr2:141730143-141730144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10169349	chr2:141730145-141730146	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28448502	chr2:141730162-141730163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555427725	chr2:141730165-141730166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66820247	chr2:141730166-141730167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs70991127	chr2:141730176-141730177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139892835	chr2:141730177-141730178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575364070	chr2:141730243-141730244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10204316	chr2:141730260-141730261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10204167	chr2:141730262-141730263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11281589	chr2:141730287-141730288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386391359	chr2:141730288-141730289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397736450	chr2:141730296-141730297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374267020	chr2:141730321-141730322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11692541	chr2:141730361-141730362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566791828	chr2:141730407-141730408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10169661	chr2:141730409-141730410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144767555	chr2:141730417-141730418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1429360	chr2:141730443-141730444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376077164	chr2:141730445-141730446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533863165	chr2:141730469-141730470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199802413	chr2:141730487-141730488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147695513	chr2:141730513-141730514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554206185	chr2:141730515-141730516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574954530	chr2:141730516-141730517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71989865	chr2:141730524-141730525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60395949	chr2:141730526-141730527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70991128	chr2:141730528-141730529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562489648	chr2:141730558-141730559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531271369	chr2:141730568-141730569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551462485	chr2:141730611-141730612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141728400-141729800	Enhancers	Dnd41	blood
2	chr2:141729400-141730400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:141729600-141730000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:141729600-141730200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:141729800-141732600	Weak transcription	Dnd41	blood

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