Variant report

Variant	nsv516745
Chromosome Location	chr6:1996943-2001355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1641666..1642175-chr6:1997946..1998735,2	MCF-7	breast:
2	chr6:1995618..1998504-chr6:2001883..2003856,2	MCF-7	breast:
3	chr6:1996917..1999046-chr6:2003121..2005556,2	MCF-7	breast:
4	chr6:1641287..1642175-chr6:1997946..1998735,3	MCF-7	breast:

Extended variants
information (count: 208 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4959620	chr6:1996943-1996944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566874911	chr6:1996951-1996952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539102002	chr6:1996989-1996990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192264270	chr6:1997006-1997007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569266568	chr6:1997120-1997121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183993699	chr6:1997169-1997170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4959621	chr6:1997212-1997213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs573940669	chr6:1997247-1997248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374552813	chr6:1997297-1997298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536071763	chr6:1997315-1997316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4959622	chr6:1997331-1997332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189132088	chr6:1997346-1997347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145899372	chr6:1997389-1997390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116674927	chr6:1997470-1997471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192184820	chr6:1997475-1997476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139233636	chr6:1997481-1997482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182327204	chr6:1997492-1997493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4959623	chr6:1997504-1997505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540500399	chr6:1997508-1997509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560720969	chr6:1997526-1997527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186987951	chr6:1997530-1997531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552636371	chr6:1997538-1997539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147510331	chr6:1997547-1997548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191934371	chr6:1997550-1997551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138303409	chr6:1997554-1997555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567585644	chr6:1997559-1997560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149643964	chr6:1997568-1997569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552923379	chr6:1997614-1997615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566647728	chr6:1997679-1997680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72830106	chr6:1997682-1997683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558242461	chr6:1997696-1997697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148726879	chr6:1997710-1997711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543828354	chr6:1997711-1997712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370685183	chr6:1997712-1997713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143687354	chr6:1997723-1997724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542421435	chr6:1997741-1997742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73716920	chr6:1997785-1997786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547749843	chr6:1997810-1997811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374610229	chr6:1997821-1997822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7757144	chr6:1997865-1997866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532742564	chr6:1997867-1997868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533183373	chr6:1997937-1997938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531715273	chr6:1997939-1997940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546039875	chr6:1998013-1998014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139627380	chr6:1998039-1998040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184495157	chr6:1998041-1998042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114596929	chr6:1998053-1998054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189206126	chr6:1998078-1998079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543705788	chr6:1998092-1998093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143333217	chr6:1998141-1998142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1985000-2010200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:1987400-2003600	Weak transcription	Aorta	Aorta
3	chr6:1988400-2008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:1990200-2008600	Weak transcription	Pancreas	Pancrea
5	chr6:1990400-2010800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:1992800-1997800	Weak transcription	Gastric	stomach
7	chr6:1992800-2010200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:1993000-2021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:1993200-2005400	Weak transcription	HepG2	liver
10	chr6:1993200-2007200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:1993400-2000400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:1993800-2001000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:1997800-1998200	Enhancers	Gastric	stomach
14	chr6:1997800-1998800	Enhancers	Liver	Liver
15	chr6:1998200-2002400	Weak transcription	Gastric	stomach
16	chr6:2000000-2021200	Weak transcription	Small Intestine	intestine
17	chr6:2000800-2001200	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr6:2001000-2001200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:2001000-2009600	Weak transcription	Primary hematopoietic stem cells	blood

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