Variant report

Variant	nsv963152
Chromosome Location	chr2:62661745-62673989
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:15)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:62662213..62664698-chr2:62665450..62668493,3	K562	blood:
2	chr2:62668006..62670179-chr2:62673148..62675536,2	K562	blood:
3	chr2:62664866..62667146-chr2:62669448..62672190,2	MCF-7	breast:
4	chr2:62664778..62666566-chr2:62669336..62671414,2	K562	blood:
5	chr2:62668006..62670179-chr2:62673148..62675536,2	K562	blood:
6	chr2:62666792..62671094-chr2:62671196..62675536,5	K562	blood:
7	chr2:62659943..62661795-chr2:63276128..63278659,2	K562	blood:
8	chr2:62666792..62671094-chr2:62671196..62675536,5	K562	blood:
9	chr2:62659546..62661645-chr2:62662188..62664735,2	MCF-7	breast:
10	chr2:62658703..62660750-chr2:62662513..62664326,2	K562	blood:
11	chr2:62664778..62666566-chr2:62669336..62671414,2	K562	blood:
12	chr2:62666195..62668333-chr2:62670039..62672884,2	MCF-7	breast:
13	chr2:62666195..62668333-chr2:62670039..62672884,2	MCF-7	breast:
14	chr2:62664866..62667146-chr2:62669448..62672190,2	MCF-7	breast:
15	chr2:62662213..62664698-chr2:62665450..62668493,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-3	chr2:62671140-62671216	l_1844_chr2:62668271-62712206_testes
2	lnc-TMEM17-3	chr2:62669444-62669603	l_1844_chr2:62668271-62712206_testes
3	lnc-TMEM17-3	chr2:62670894-62671216	NONHSAT071013
4	lnc-TMEM17-3	chr2:62668272-62668559	l_1844_chr2:62668271-62712206_testes

No data

Variant related genes	Relation type
ENSG00000115507	chromatin interactions

Extended variants
information (count: 472 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376644784	chr2:62661752-62661753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547998469	chr2:62661771-62661772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200665576	chr2:62661809-62661810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527293400	chr2:62661812-62661813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538528450	chr2:62661880-62661881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184672147	chr2:62661911-62661912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373532268	chr2:62661924-62661925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570804439	chr2:62661934-62661935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376750709	chr2:62661991-62661992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538114400	chr2:62662019-62662020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550032601	chr2:62662022-62662023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568277836	chr2:62662027-62662028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75470403	chr2:62662036-62662037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554767749	chr2:62662038-62662039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573246574	chr2:62662051-62662052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112085884	chr2:62662064-62662065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565944380	chr2:62662068-62662069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533980261	chr2:62662076-62662077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79941897	chr2:62662115-62662116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190353131	chr2:62662116-62662117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369445892	chr2:62662142-62662143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141302741	chr2:62662153-62662154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562810815	chr2:62662161-62662162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574715668	chr2:62662176-62662177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548743363	chr2:62662206-62662207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542365463	chr2:62662207-62662208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7602875	chr2:62662222-62662223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527375151	chr2:62662244-62662245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79301857	chr2:62662273-62662274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113449653	chr2:62662305-62662306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55866182	chr2:62662308-62662309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7602981	chr2:62662313-62662314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58751116	chr2:62662332-62662333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201591491	chr2:62662334-62662335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138256771	chr2:62662338-62662339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62177980	chr2:62662340-62662341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367595645	chr2:62662342-62662343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34222034	chr2:62662343-62662344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200710617	chr2:62662365-62662366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77559257	chr2:62662407-62662408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182231048	chr2:62662440-62662441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564541650	chr2:62662447-62662448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375928409	chr2:62662454-62662455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566899495	chr2:62662456-62662457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534278976	chr2:62662476-62662477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187197787	chr2:62662500-62662501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576845283	chr2:62662506-62662507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79919501	chr2:62662526-62662527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190140151	chr2:62662613-62662614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574754169	chr2:62662635-62662636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62657400-62683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62662000-62662600	Enhancers	GM12878-XiMat	blood
3	chr2:62662600-62663600	Enhancers	Primary B cells from cord blood	blood
4	chr2:62662600-62663800	Flanking Active TSS	GM12878-XiMat	blood
5	chr2:62662600-62664000	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:62663800-62664400	Enhancers	GM12878-XiMat	blood
7	chr2:62664400-62666200	Weak transcription	GM12878-XiMat	blood
8	chr2:62666200-62667800	Enhancers	GM12878-XiMat	blood
9	chr2:62668200-62668800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:62668200-62670600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:62668600-62670200	Enhancers	NHEK	skin
12	chr2:62668800-62669200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:62669000-62669200	Bivalent Enhancer	HepG2	liver
14	chr2:62669000-62669400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:62669200-62670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:62670200-62670800	Enhancers	Esophagus	oesophagus
17	chr2:62670200-62679600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:62670600-62679400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:62670800-62671000	Flanking Active TSS	Esophagus	oesophagus
20	chr2:62671000-62671400	Active TSS	Esophagus	oesophagus
21	chr2:62671400-62677000	Weak transcription	Esophagus	oesophagus

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