Variant report

Variant	nsv604769
Chromosome Location	chr6:140785977-140849702
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
2	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
3	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
4	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
5	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
6	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
7	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
8	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
9	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
10	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
11	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
12	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
13	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
14	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
15	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
16	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
17	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
18	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
19	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
20	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
21	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
22	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
23	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
24	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
25	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
26	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:

No data

Extended variants
information (count: 1245 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17069970	chr6:140785977-140785978	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79417988	chr6:140785984-140785985	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559690142	chr6:140785988-140785989	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564178658	chr6:140786023-140786024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190702339	chr6:140786099-140786100	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546172437	chr6:140786136-140786137	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568041346	chr6:140786152-140786153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181987866	chr6:140786170-140786171	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186369082	chr6:140786171-140786172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148281857	chr6:140786231-140786232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377293536	chr6:140786237-140786238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539574609	chr6:140786244-140786245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557994456	chr6:140786271-140786272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140502086	chr6:140786275-140786276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188417108	chr6:140786301-140786302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534222394	chr6:140786335-140786336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555779443	chr6:140786356-140786357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62429829	chr6:140786392-140786393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574424109	chr6:140786397-140786398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561535801	chr6:140786427-140786428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563148916	chr6:140786467-140786468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578125098	chr6:140786498-140786499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528970319	chr6:140786527-140786528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545548452	chr6:140786571-140786572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564060467	chr6:140786582-140786583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374791856	chr6:140786598-140786599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528152033	chr6:140786668-140786669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546235178	chr6:140786678-140786679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145369155	chr6:140786700-140786701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528627063	chr6:140786701-140786702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73576711	chr6:140786751-140786752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531310515	chr6:140786777-140786778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117223162	chr6:140786833-140786834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539274142	chr6:140786839-140786840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551540214	chr6:140786860-140786861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9484385	chr6:140786902-140786903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369468059	chr6:140786904-140786905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534287819	chr6:140786916-140786917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542961644	chr6:140786932-140786933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555854884	chr6:140786953-140786954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114882620	chr6:140786988-140786989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538211889	chr6:140787056-140787057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556592542	chr6:140787086-140787087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180843961	chr6:140787103-140787104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571441870	chr6:140787193-140787194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539809107	chr6:140787213-140787214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545300604	chr6:140787215-140787216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368529154	chr6:140787220-140787221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538689634	chr6:140787254-140787255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374209157	chr6:140787258-140787259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140782400-140786000	Enhancers	NHDF-Ad	bronchial
2	chr6:140783000-140786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:140783800-140786000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:140785000-140788800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:140785000-140796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:140785200-140799800	Weak transcription	Osteobl	bone
7	chr6:140785400-140786000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr6:140785600-140786000	ZNF genes & repeats	HSMM	muscle
9	chr6:140785600-140786000	Enhancers	NHLF	lung
10	chr6:140785600-140786200	Flanking Active TSS	Liver	Liver
11	chr6:140785600-140786200	Enhancers	Stomach Mucosa	stomach
12	chr6:140785800-140786000	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:140785800-140786000	Enhancers	HMEC	breast
14	chr6:140786000-140787000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:140786000-140787200	Weak transcription	HSMM	muscle
16	chr6:140786200-140786600	Enhancers	Liver	Liver
17	chr6:140786600-140787800	Weak transcription	Liver	Liver
18	chr6:140787000-140787200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:140787800-140788400	Active TSS	Liver	Liver
20	chr6:140787800-140788400	Active TSS	Fetal Heart	heart
21	chr6:140793800-140802000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:140795600-140796200	Enhancers	HSMMtube	muscle
23	chr6:140795800-140796800	Enhancers	Fetal Heart	heart
24	chr6:140796000-140796200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:140796000-140796600	Enhancers	HMEC	breast
26	chr6:140796000-140797200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:140796200-140796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:140796200-140796600	Enhancers	NHEK	skin
29	chr6:140796200-140796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:140796200-140796800	Enhancers	HSMM	muscle
31	chr6:140796400-140796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:140796400-140796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:140796600-140797600	Weak transcription	NHEK	skin
34	chr6:140796600-140807200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:140796800-140801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:140796800-140807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:140799400-140809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:140799800-140800200	ZNF genes & repeats	Osteobl	bone
39	chr6:140800200-140802000	Weak transcription	Osteobl	bone
40	chr6:140801200-140802200	Weak transcription	NHEK	skin
41	chr6:140801400-140802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:140801600-140802400	Enhancers	Colon Smooth Muscle	Colon
43	chr6:140801800-140802000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:140801800-140802400	Enhancers	NHLF	lung
45	chr6:140802000-140802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:140802000-140802400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:140802000-140802400	Enhancers	Adipose Nuclei	Adipose
48	chr6:140802000-140802400	Enhancers	Aorta	Aorta
49	chr6:140802000-140802400	Enhancers	Fetal Lung	lung
50	chr6:140802000-140802400	Enhancers	Fetal Muscle Leg	muscle

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