Variant report

Variant	nsv961341
Chromosome Location	chr2:114532909-114534569
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	chr2:114512806..114514791-chr2:114533801..114535342,2	MCF-7	breast:
2	chr2:114532490..114535142-chr2:114535239..114537247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570329500	chr2:114533050-114533051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74741678	chr2:114533069-114533070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10177576	chr2:114533088-114533089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs367955444	chr2:114533092-114533093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535376536	chr2:114533111-114533112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10165334	chr2:114533135-114533136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574694283	chr2:114533136-114533137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543916856	chr2:114533189-114533190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557454785	chr2:114533196-114533197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181578351	chr2:114533205-114533206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546470268	chr2:114533220-114533221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559979431	chr2:114533240-114533241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186074941	chr2:114533243-114533244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375155319	chr2:114533262-114533263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189411727	chr2:114533264-114533265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561746932	chr2:114533282-114533283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561385613	chr2:114533286-114533287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180803561	chr2:114533305-114533306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186196004	chr2:114533306-114533307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570241619	chr2:114533323-114533324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368669125	chr2:114533329-114533330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372127693	chr2:114533333-114533334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532860869	chr2:114533338-114533339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556889646	chr2:114533361-114533362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546429242	chr2:114533378-114533379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566506028	chr2:114533385-114533386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535741647	chr2:114533396-114533397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557681227	chr2:114533408-114533409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559202318	chr2:114533411-114533412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575147849	chr2:114533435-114533436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568455632	chr2:114533478-114533479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537474353	chr2:114533515-114533516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61539759	chr2:114533538-114533539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12711788	chr2:114533618-114533619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs13386217	chr2:114533651-114533652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577458326	chr2:114533663-114533664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72946684	chr2:114533670-114533671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61614309	chr2:114533720-114533721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553610123	chr2:114533769-114533770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573331138	chr2:114533777-114533778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542527133	chr2:114533784-114533785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57192182	chr2:114533807-114533808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376646402	chr2:114533823-114533824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200514638	chr2:114533829-114533830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13025601	chr2:114533831-114533832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565858468	chr2:114533832-114533833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578146903	chr2:114533834-114533835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368796149	chr2:114533835-114533836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200012997	chr2:114533839-114533840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376004164	chr2:114533842-114533843	Weak transcription	Chromatin interactive region	1 gene(s)	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114529800-114534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114534200-114535800	Enhancers	Fetal Intestine Small	intestine
3	chr2:114534400-114535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:114534400-114535600	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:114534400-114535800	Enhancers	Fetal Intestine Large	intestine

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