Variant report

Variant	nsv1013613
Chromosome Location	chr2:63545598-63606689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63604162..63606247-chr2:63607052..63609917,2	K562	blood:
2	chr2:63540899..63542710-chr2:63545803..63547726,2	MCF-7	breast:
3	chr2:63574920..63576944-chr2:63604308..63606529,2	K562	blood:
4	chr2:63574920..63576944-chr2:63604308..63606529,2	K562	blood:
5	chr2:63603673..63606325-chr2:63611148..63612797,2	K562	blood:
6	chr2:63558377..63559158-chr4:30081687..30082401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143951	chromatin interactions

Extended variants
information (count: 1972 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1972 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4671479	chr2:63545598-63545599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569595270	chr2:63545611-63545612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562129082	chr2:63545639-63545640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576584502	chr2:63545705-63545706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543908497	chr2:63545767-63545768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561881905	chr2:63545794-63545795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72896185	chr2:63545860-63545861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547675890	chr2:63545900-63545901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147323409	chr2:63545908-63545909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182288005	chr2:63545942-63545943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563756423	chr2:63545948-63545949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532975862	chr2:63545967-63545968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149636064	chr2:63545990-63545991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569280845	chr2:63545997-63545998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186528837	chr2:63546052-63546053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548626420	chr2:63546102-63546103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190965237	chr2:63546110-63546111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377498635	chr2:63546155-63546156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535667686	chr2:63546164-63546165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559324932	chr2:63546175-63546176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144399303	chr2:63546197-63546198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572754260	chr2:63546218-63546219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572478937	chr2:63546252-63546253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370327814	chr2:63546253-63546254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539870875	chr2:63546270-63546271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374675089	chr2:63546414-63546415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539820778	chr2:63546429-63546430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148343135	chr2:63546434-63546435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12612773	chr2:63546441-63546442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs373537665	chr2:63546445-63546446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571468587	chr2:63546578-63546579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371623230	chr2:63546670-63546671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72813485	chr2:63546681-63546682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374514705	chr2:63546738-63546739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540849967	chr2:63546768-63546769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547276463	chr2:63546769-63546770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533096983	chr2:63546780-63546781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544867984	chr2:63546849-63546850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562953760	chr2:63546869-63546870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142144661	chr2:63546938-63546939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146319378	chr2:63546941-63546942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535941135	chr2:63546943-63546944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188546955	chr2:63546977-63546978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192706790	chr2:63546991-63546992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368573240	chr2:63547019-63547020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547654834	chr2:63547057-63547058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566237403	chr2:63547081-63547082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530840934	chr2:63547161-63547162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140221281	chr2:63547162-63547163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540154467	chr2:63547231-63547232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63530600-63545800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:63531000-63571400	Weak transcription	Left Ventricle	heart
3	chr2:63532200-63549800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:63536400-63550000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:63545200-63550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:63546400-63546600	Weak transcription	Primary T cells from cord blood	blood
7	chr2:63549800-63550200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:63549800-63550800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:63549800-63551200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:63550000-63550200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:63550000-63550200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:63550000-63550600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr2:63550000-63552800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:63550200-63550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:63550200-63552600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:63550400-63550600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:63550400-63550600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:63550400-63550600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:63550600-63550800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:63550600-63550800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr2:63550600-63550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:63550600-63551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:63550600-63551000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:63550600-63551600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:63550600-63552400	Weak transcription	Ovary	ovary
26	chr2:63550800-63551000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:63550800-63551800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:63550800-63552400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:63550800-63552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:63551000-63551400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:63551000-63552400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:63551000-63552800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:63551200-63551800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:63551200-63553600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:63551400-63551600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:63551600-63551800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:63551600-63552000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:63551800-63552400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:63551800-63560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:63552000-63552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:63552400-63552600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:63552400-63552600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:63552400-63552600	ZNF genes & repeats	Ovary	ovary
44	chr2:63552400-63552800	Enhancers	HepG2	liver
45	chr2:63552400-63553000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr2:63552600-63553000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:63552600-63555400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:63552600-63571400	Weak transcription	Ovary	ovary
49	chr2:63552800-63561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:63553000-63573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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