Variant report

Variant	nsv582087
Chromosome Location	chr2:57514400-57552087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:89748263..89749241-chr2:57525429..57526152,2	MCF-7	breast:
2	chr2:57540667..57542939-chr2:57544069..57546908,2	K562	blood:
3	chr2:57540667..57542939-chr2:57544069..57546908,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-2	chr2:57542599-57542640	XLOC_002102
2	lnc-FANCL-2	chr2:57541337-57541655	NONHSAT070831
3	lnc-FANCL-2	chr2:57541338-57541655	XLOC_002102
4	lnc-FANCL-2	chr2:57542598-57542640	NONHSAT070831

No data

Variant related genes	Relation type
SPRY4	miRNA target sites
TSC1	miRNA target sites

Extended variants
information (count: 170 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs141334829	chr2:57518603-57518604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547509833	chr2:57518627-57518628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183369118	chr2:57518628-57518629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116670708	chr2:57518648-57518649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1522760	chr2:57518671-57518672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144971254	chr2:57518725-57518726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543350833	chr2:57518733-57518734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562929704	chr2:57518757-57518758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72939658	chr2:57518773-57518774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574411734	chr2:57519403-57519404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146095195	chr2:57519412-57519413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536254620	chr2:57519475-57519476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565732785	chr2:57519481-57519482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57055298	chr2:57519482-57519483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145225148	chr2:57539201-57539202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553621090	chr2:57539205-57539206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17805484	chr2:57539209-57539210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs540681701	chr2:57539223-57539224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76605163	chr2:57539258-57539259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80098883	chr2:57539301-57539302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543044686	chr2:57539339-57539340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542264899	chr2:57539343-57539344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562830967	chr2:57539352-57539353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562619857	chr2:57539373-57539374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149142172	chr2:57539398-57539399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551152010	chr2:57539415-57539416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564698720	chr2:57539427-57539428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182201214	chr2:57539438-57539439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547054688	chr2:57539471-57539472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10178543	chr2:57539475-57539476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1357378	chr2:57539489-57539490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549793577	chr2:57539499-57539500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569439762	chr2:57539504-57539505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542095024	chr2:57539524-57539525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538497483	chr2:57539526-57539527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78134281	chr2:57539527-57539528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578194664	chr2:57539531-57539532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545148740	chr2:57539549-57539550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78588593	chr2:57539560-57539561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76361044	chr2:57539590-57539591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376571274	chr2:57539609-57539610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187209174	chr2:57539629-57539630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116481759	chr2:57539634-57539635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542654838	chr2:57539646-57539647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562942750	chr2:57539676-57539677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576038592	chr2:57539684-57539685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149275840	chr2:57539708-57539709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199505177	chr2:57539709-57539710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540995189	chr2:57539720-57539721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201397291	chr2:57539722-57539723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57518600-57518800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:57518600-57518800	Enhancers	Pancreas	Pancrea
3	chr2:57519400-57519600	Enhancers	Pancreas	Pancrea
4	chr2:57539200-57539400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:57539400-57540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:57540400-57541200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:57540400-57541200	Enhancers	HMEC	breast
8	chr2:57540400-57542800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:57540600-57541200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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