Variant report

Variant	nsv1034251
Chromosome Location	chr6:140771199-140819415
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
2	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
3	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
4	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
5	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
6	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
7	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
8	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
9	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
10	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
11	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
12	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
13	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
14	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
15	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
16	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
17	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
18	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
19	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
20	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
21	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
22	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
23	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
24	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
25	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
26	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
27	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:

No data

Extended variants
information (count: 1538 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78031200	chr6:140771201-140771202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142109040	chr6:140771202-140771203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191474282	chr6:140771272-140771273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182182280	chr6:140771320-140771321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529570158	chr6:140771341-140771342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76026731	chr6:140771384-140771385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550251993	chr6:140771393-140771394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9495707	chr6:140771417-140771418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532769884	chr6:140771487-140771488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550935197	chr6:140771594-140771595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566791852	chr6:140771709-140771710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533822371	chr6:140771790-140771791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188028657	chr6:140771836-140771837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567339702	chr6:140771852-140771853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28885211	chr6:140771890-140771891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192826781	chr6:140771931-140771932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556695608	chr6:140771990-140771991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572939041	chr6:140772012-140772013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545432398	chr6:140772081-140772082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569128968	chr6:140772102-140772103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554195181	chr6:140772113-140772114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9495708	chr6:140772129-140772130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556621081	chr6:140772145-140772146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185222062	chr6:140772157-140772158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561572311	chr6:140772164-140772165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531822969	chr6:140772302-140772303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543563137	chr6:140772451-140772452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35733119	chr6:140772460-140772461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562265674	chr6:140772515-140772516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139857937	chr6:140772526-140772527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539413955	chr6:140772545-140772546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550988472	chr6:140772549-140772550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566341552	chr6:140772551-140772552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527624759	chr6:140772621-140772622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549012913	chr6:140772694-140772695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34348572	chr6:140772748-140772749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567503463	chr6:140772771-140772772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538057578	chr6:140772835-140772836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549965780	chr6:140772864-140772865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552733187	chr6:140772910-140772911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374596434	chr6:140772917-140772918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571806179	chr6:140772978-140772979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562018443	chr6:140772986-140772987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188786920	chr6:140773008-140773009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77533423	chr6:140773010-140773011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572339972	chr6:140773025-140773026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536610436	chr6:140773029-140773030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554969965	chr6:140773186-140773187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576649341	chr6:140773198-140773199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149833573	chr6:140773216-140773217	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:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140767600-140774000	Weak transcription	NHLF	lung
2	chr6:140771000-140771200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:140774200-140783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:140775400-140779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:140775600-140776200	Weak transcription	NHDF-Ad	bronchial
6	chr6:140777600-140780600	Weak transcription	NHLF	lung
7	chr6:140778800-140779600	Enhancers	Fetal Heart	heart
8	chr6:140779000-140779600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:140779200-140779600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:140779600-140779800	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:140779800-140784000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:140780200-140780600	Enhancers	HSMMtube	muscle
13	chr6:140780200-140780800	Enhancers	NHEK	skin
14	chr6:140780600-140780800	Enhancers	NHLF	lung
15	chr6:140780600-140783200	Weak transcription	HSMMtube	muscle
16	chr6:140780800-140782400	Weak transcription	NHLF	lung
17	chr6:140780800-140783200	Weak transcription	NHEK	skin
18	chr6:140781400-140783800	Enhancers	Liver	Liver
19	chr6:140781600-140782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:140781800-140782000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:140782000-140783400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:140782400-140783000	Enhancers	Ovary	ovary
23	chr6:140782400-140783600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:140782400-140785200	Enhancers	NHLF	lung
25	chr6:140782400-140786000	Enhancers	NHDF-Ad	bronchial
26	chr6:140782600-140783200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:140782600-140784800	Enhancers	Adipose Nuclei	Adipose
28	chr6:140782800-140784800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:140783000-140783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:140783000-140783200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:140783000-140784000	Weak transcription	Ovary	ovary
32	chr6:140783000-140784800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:140783000-140785200	Enhancers	Osteobl	bone
34	chr6:140783000-140786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:140783200-140783600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:140783200-140783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:140783200-140784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:140783200-140784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:140783200-140784200	Enhancers	NHEK	skin
40	chr6:140783200-140784400	Enhancers	Hela-S3	cervix
41	chr6:140783200-140784400	Enhancers	HMEC	breast
42	chr6:140783200-140784800	Enhancers	Fetal Lung	lung
43	chr6:140783200-140785000	Enhancers	HSMMtube	muscle
44	chr6:140783200-140785200	Enhancers	HSMM	muscle
45	chr6:140783200-140785800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:140783400-140784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:140783400-140785000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:140783400-140785000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:140783400-140785200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:140783600-140784000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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