Variant report

Variant	nsv604770
Chromosome Location	chr6:140795635-140849702
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
2	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
3	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
4	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
5	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
6	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
7	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
8	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
9	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
10	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
11	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
12	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
13	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
14	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
15	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
16	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
17	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:

No data

Extended variants
information (count: 926 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9285492	chr6:140795635-140795636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549163524	chr6:140795636-140795637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567663037	chr6:140795685-140795686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190949113	chr6:140795711-140795712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550472845	chr6:140795742-140795743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537980797	chr6:140795769-140795770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552626174	chr6:140795773-140795774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148501988	chr6:140795809-140795810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145380158	chr6:140795814-140795815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572648541	chr6:140795888-140795889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114904335	chr6:140795895-140795896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147684420	chr6:140795912-140795913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140836750	chr6:140795973-140795974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543831877	chr6:140796157-140796158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574116804	chr6:140796190-140796191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144358800	chr6:140796328-140796329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375824672	chr6:140796347-140796348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558343264	chr6:140796361-140796362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113464174	chr6:140796390-140796391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533793575	chr6:140796411-140796412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566071197	chr6:140796442-140796443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560394582	chr6:140796446-140796447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376872289	chr6:140796492-140796493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116611198	chr6:140796493-140796494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183140397	chr6:140796502-140796503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531760664	chr6:140796509-140796510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151197457	chr6:140796522-140796523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188225095	chr6:140796634-140796635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548332675	chr6:140796635-140796636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547636980	chr6:140796641-140796642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372152130	chr6:140796673-140796674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73777339	chr6:140796715-140796716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555458455	chr6:140796753-140796754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573630540	chr6:140796795-140796796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537880366	chr6:140796883-140796884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140337789	chr6:140796932-140796933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527625306	chr6:140796945-140796946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372712564	chr6:140796971-140796972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76979165	chr6:140796997-140796998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576769847	chr6:140797007-140797008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74669678	chr6:140797061-140797062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192995049	chr6:140797080-140797081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560456266	chr6:140797081-140797082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376771173	chr6:140797108-140797109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184354186	chr6:140797165-140797166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542435851	chr6:140797185-140797186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114408802	chr6:140797211-140797212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531704105	chr6:140797219-140797220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187926142	chr6:140797340-140797341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568730102	chr6:140797347-140797348	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:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140785000-140796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140785200-140799800	Weak transcription	Osteobl	bone
3	chr6:140793800-140802000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:140795600-140796200	Enhancers	HSMMtube	muscle
5	chr6:140795800-140796800	Enhancers	Fetal Heart	heart
6	chr6:140796000-140796200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:140796000-140796600	Enhancers	HMEC	breast
8	chr6:140796000-140797200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:140796200-140796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:140796200-140796600	Enhancers	NHEK	skin
11	chr6:140796200-140796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:140796200-140796800	Enhancers	HSMM	muscle
13	chr6:140796400-140796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:140796400-140796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:140796600-140797600	Weak transcription	NHEK	skin
16	chr6:140796600-140807200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:140796800-140801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:140796800-140807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:140799400-140809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:140799800-140800200	ZNF genes & repeats	Osteobl	bone
21	chr6:140800200-140802000	Weak transcription	Osteobl	bone
22	chr6:140801200-140802200	Weak transcription	NHEK	skin
23	chr6:140801400-140802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:140801600-140802400	Enhancers	Colon Smooth Muscle	Colon
25	chr6:140801800-140802000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:140801800-140802400	Enhancers	NHLF	lung
27	chr6:140802000-140802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:140802000-140802400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:140802000-140802400	Enhancers	Adipose Nuclei	Adipose
30	chr6:140802000-140802400	Enhancers	Aorta	Aorta
31	chr6:140802000-140802400	Enhancers	Fetal Lung	lung
32	chr6:140802000-140802400	Enhancers	Fetal Muscle Leg	muscle
33	chr6:140802000-140802400	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:140802000-140802400	Enhancers	Osteobl	bone
35	chr6:140802000-140802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:140802200-140802400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:140802200-140802400	Enhancers	Esophagus	oesophagus
38	chr6:140802200-140802400	Enhancers	HSMM	muscle
39	chr6:140802200-140802400	Enhancers	NHDF-Ad	bronchial
40	chr6:140802200-140802600	Enhancers	NHEK	skin
41	chr6:140802400-140802600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:140802400-140805200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:140802400-140806000	Weak transcription	HSMM	muscle
44	chr6:140802400-140806000	Weak transcription	Osteobl	bone
45	chr6:140802400-140806600	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:140802400-140806600	Weak transcription	HMEC	breast
47	chr6:140802400-140807000	Weak transcription	NHLF	lung
48	chr6:140802400-140807600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:140802400-140809000	Weak transcription	Aorta	Aorta
50	chr6:140802600-140805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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