Variant report

Variant	nsv2664
Chromosome Location	chr2:31710417-31733762
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	chr2:31705373..31707230-chr2:31710852..31712449,2	MCF-7	breast:
2	chr2:31730344..31732278-chr2:31734410..31735928,2	K562	blood:

Extended variants
information (count: 642 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562232661	chr2:31710483-31710484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540770909	chr2:31710500-31710501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201560913	chr2:31710562-31710563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533915480	chr2:31710569-31710570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192371848	chr2:31710577-31710578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146302832	chr2:31710590-31710591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567814067	chr2:31710637-31710638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184753829	chr2:31710686-31710687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556851213	chr2:31710742-31710743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6752832	chr2:31710784-31710785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539029295	chr2:31710824-31710825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113848211	chr2:31710838-31710839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140483804	chr2:31710850-31710851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574333502	chr2:31710856-31710857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150433561	chr2:31710881-31710882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573731466	chr2:31710986-31710987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114431137	chr2:31711028-31711029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190520640	chr2:31711077-31711078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138263641	chr2:31711099-31711100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192644028	chr2:31711118-31711119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564931309	chr2:31711119-31711120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377069652	chr2:31711148-31711149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547443004	chr2:31711163-31711164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112427391	chr2:31711182-31711183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184530937	chr2:31711236-31711237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552328183	chr2:31711289-31711290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530276000	chr2:31711317-31711318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142987555	chr2:31711324-31711325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs206835	chr2:31711405-31711406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539373111	chr2:31711408-31711409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559306361	chr2:31711471-31711472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9636426	chr2:31711497-31711498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189804067	chr2:31711502-31711503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181310429	chr2:31711509-31711510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372799246	chr2:31711515-31711516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574875999	chr2:31711540-31711541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185915311	chr2:31711558-31711559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs206836	chr2:31711568-31711569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575916737	chr2:31711571-31711572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544870067	chr2:31711622-31711623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189158752	chr2:31711635-31711636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559722903	chr2:31711637-31711638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371961482	chr2:31711655-31711656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527240940	chr2:31711661-31711662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111555879	chr2:31711671-31711672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs206837	chr2:31711757-31711758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148407850	chr2:31711788-31711789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550379254	chr2:31711796-31711797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142543844	chr2:31711816-31711817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150544477	chr2:31711825-31711826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31701000-31712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:31705200-31712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:31706200-31710600	Weak transcription	NHDF-Ad	bronchial
4	chr2:31707600-31712000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:31707600-31712200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31710600-31711000	Enhancers	NHDF-Ad	bronchial
7	chr2:31711000-31712000	Weak transcription	NHDF-Ad	bronchial
8	chr2:31712000-31712400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:31712000-31712600	Enhancers	NHDF-Ad	bronchial
10	chr2:31712000-31712600	Enhancers	NHLF	lung
11	chr2:31712000-31712800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:31712000-31712800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:31712000-31712800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:31712000-31712800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:31712000-31712800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:31712000-31712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:31712000-31712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:31712000-31712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:31712000-31713000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:31712200-31712600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:31712200-31712600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:31712200-31712600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:31712200-31712600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:31712200-31712600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:31712200-31712600	Enhancers	Fetal Intestine Large	intestine
26	chr2:31712200-31712800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:31712200-31712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:31712200-31712800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:31712200-31712800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:31712400-31712800	Enhancers	Gastric	stomach
31	chr2:31712600-31712800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:31712600-31712800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:31712800-31713200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:31712800-31718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:31712800-31718800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:31712800-31719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:31718000-31718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:31718600-31718800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:31718800-31719000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:31718800-31719200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:31718800-31719200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr2:31718800-31719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:31718800-31719400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:31718800-31719600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:31718800-31719600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr2:31718800-31719600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:31718800-31719600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:31718800-31719800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr2:31718800-31719800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:31719000-31719200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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