Variant report

Variant	nsv981073
Chromosome Location	chr6:101347954-101352893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101340211..101341918-chr6:101348569..101350862,2	K562	blood:
2	chr6:101327681..101329866-chr6:101349579..101352191,2	K562	blood:
3	chr6:101341802..101344010-chr6:101345674..101348065,2	K562	blood:

Variant related genes	Relation type
ENSG00000260000	chromatin interactions
ENSG00000112249	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs557019032	chr6:101347985-101347986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200912474	chr6:101348000-101348001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11384355	chr6:101348009-101348010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79563370	chr6:101348010-101348011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs668932	chr6:101348050-101348051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142307580	chr6:101348056-101348057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568020585	chr6:101348062-101348063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182603621	chr6:101348066-101348067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550315792	chr6:101348074-101348075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528887718	chr6:101348095-101348096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547464070	chr6:101348110-101348111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558078257	chr6:101348112-101348113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79300250	chr6:101348122-101348123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9791225	chr6:101348125-101348126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs549445692	chr6:101348136-101348137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9498422	chr6:101348243-101348244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192739428	chr6:101348244-101348245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555232890	chr6:101348249-101348250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573644732	chr6:101348250-101348251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79612012	chr6:101348304-101348305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143953317	chr6:101348310-101348311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148232351	chr6:101348354-101348355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566233435	chr6:101348369-101348370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546297745	chr6:101348397-101348398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184291130	chr6:101348411-101348412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576721435	chr6:101348414-101348415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544072801	chr6:101348438-101348439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535363066	chr6:101348505-101348506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551662310	chr6:101348524-101348525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562368046	chr6:101348544-101348545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75402324	chr6:101348547-101348548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187606923	chr6:101348572-101348573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559317363	chr6:101348627-101348628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577961131	chr6:101348711-101348712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369826554	chr6:101348739-101348740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74368477	chr6:101348753-101348754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs672410	chr6:101348754-101348755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs193250620	chr6:101348772-101348773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs672437	chr6:101348775-101348776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377206148	chr6:101348810-101348811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548792515	chr6:101348813-101348814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184849465	chr6:101348822-101348823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534617168	chr6:101348904-101348905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111552774	chr6:101348907-101348908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201971026	chr6:101348980-101348981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs592463	chr6:101349002-101349003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539511220	chr6:101349057-101349058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558224961	chr6:101349078-101349079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141195500	chr6:101349079-101349080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59331810	chr6:101349105-101349106	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Autism	22543975	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101347600-101349000	Weak transcription	Liver	Liver
2	chr6:101349000-101349600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:101349000-101349600	Enhancers	Liver	Liver
4	chr6:101349600-101350200	Enhancers	HepG2	liver
5	chr6:101349800-101350000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:101349800-101350200	Enhancers	Stomach Mucosa	stomach
7	chr6:101350000-101351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:101350200-101352000	Weak transcription	Stomach Mucosa	stomach
9	chr6:101350800-101351000	Enhancers	Dnd41	blood
10	chr6:101351000-101352200	Weak transcription	Dnd41	blood
11	chr6:101351600-101352400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:101351800-101352000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:101351800-101352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:101351800-101352400	Enhancers	Small Intestine	intestine
15	chr6:101351800-101353000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:101352000-101352400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:101352000-101352400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:101352000-101353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:101352000-101353200	Enhancers	Placenta	Placenta
20	chr6:101352200-101352400	Enhancers	Stomach Mucosa	stomach
21	chr6:101352200-101353800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:101352200-101354600	Enhancers	Dnd41	blood
23	chr6:101352400-101353200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:101352800-101353400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:101352800-101354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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