Variant report

Variant	nsv1033800
Chromosome Location	chr6:140786914-140844320
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1208 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1208 , 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	rs534287819	chr6:140786916-140786917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542961644	chr6:140786932-140786933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555854884	chr6:140786953-140786954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114882620	chr6:140786988-140786989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538211889	chr6:140787056-140787057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556592542	chr6:140787086-140787087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180843961	chr6:140787103-140787104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571441870	chr6:140787193-140787194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539809107	chr6:140787213-140787214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545300604	chr6:140787215-140787216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368529154	chr6:140787220-140787221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538689634	chr6:140787254-140787255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374209157	chr6:140787258-140787259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560733187	chr6:140787344-140787345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572642352	chr6:140787348-140787349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539948863	chr6:140787402-140787403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561400850	chr6:140787489-140787490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141131037	chr6:140787500-140787501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185879127	chr6:140787615-140787616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116650796	chr6:140787633-140787634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550800577	chr6:140787696-140787697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533235751	chr6:140787701-140787702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190983565	chr6:140787708-140787709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551337022	chr6:140787767-140787768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566678724	chr6:140787801-140787802	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527434026	chr6:140787811-140787812	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150723902	chr6:140787936-140787937	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374053204	chr6:140787966-140787967	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369325741	chr6:140787976-140787977	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567726244	chr6:140788012-140788013	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537885690	chr6:140788030-140788031	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556498731	chr6:140788039-140788040	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs183707054	chr6:140788127-140788128	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527590955	chr6:140788132-140788133	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374044158	chr6:140788134-140788135	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs367991643	chr6:140788143-140788144	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs118081697	chr6:140788153-140788154	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554004152	chr6:140788157-140788158	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572308804	chr6:140788170-140788171	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547225791	chr6:140788172-140788173	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373376099	chr6:140788261-140788262	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs137957373	chr6:140788289-140788290	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573388375	chr6:140788302-140788303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28657979	chr6:140788349-140788350	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543897093	chr6:140788362-140788363	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149485911	chr6:140788391-140788392	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186592709	chr6:140788482-140788483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548189512	chr6:140788511-140788512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536310006	chr6:140788525-140788526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145981945	chr6:140788576-140788577	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140785000-140788800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:140785000-140796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:140785200-140799800	Weak transcription	Osteobl	bone
4	chr6:140786000-140787000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:140786000-140787200	Weak transcription	HSMM	muscle
6	chr6:140786600-140787800	Weak transcription	Liver	Liver
7	chr6:140787000-140787200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:140787800-140788400	Active TSS	Liver	Liver
9	chr6:140787800-140788400	Active TSS	Fetal Heart	heart
10	chr6:140793800-140802000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:140795600-140796200	Enhancers	HSMMtube	muscle
12	chr6:140795800-140796800	Enhancers	Fetal Heart	heart
13	chr6:140796000-140796200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:140796000-140796600	Enhancers	HMEC	breast
15	chr6:140796000-140797200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:140796200-140796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:140796200-140796600	Enhancers	NHEK	skin
18	chr6:140796200-140796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:140796200-140796800	Enhancers	HSMM	muscle
20	chr6:140796400-140796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:140796400-140796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:140796600-140797600	Weak transcription	NHEK	skin
23	chr6:140796600-140807200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:140796800-140801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:140796800-140807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:140799400-140809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:140799800-140800200	ZNF genes & repeats	Osteobl	bone
28	chr6:140800200-140802000	Weak transcription	Osteobl	bone
29	chr6:140801200-140802200	Weak transcription	NHEK	skin
30	chr6:140801400-140802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:140801600-140802400	Enhancers	Colon Smooth Muscle	Colon
32	chr6:140801800-140802000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:140801800-140802400	Enhancers	NHLF	lung
34	chr6:140802000-140802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:140802000-140802400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:140802000-140802400	Enhancers	Adipose Nuclei	Adipose
37	chr6:140802000-140802400	Enhancers	Aorta	Aorta
38	chr6:140802000-140802400	Enhancers	Fetal Lung	lung
39	chr6:140802000-140802400	Enhancers	Fetal Muscle Leg	muscle
40	chr6:140802000-140802400	Enhancers	Rectal Smooth Muscle	rectum
41	chr6:140802000-140802400	Enhancers	Osteobl	bone
42	chr6:140802000-140802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:140802200-140802400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:140802200-140802400	Enhancers	Esophagus	oesophagus
45	chr6:140802200-140802400	Enhancers	HSMM	muscle
46	chr6:140802200-140802400	Enhancers	NHDF-Ad	bronchial
47	chr6:140802200-140802600	Enhancers	NHEK	skin
48	chr6:140802400-140802600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:140802400-140805200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:140802400-140806000	Weak transcription	HSMM	muscle

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