Variant report

Variant	nsv604768
Chromosome Location	chr6:140780603-140856770
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
2	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
3	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
4	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
5	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
6	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
7	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
8	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
9	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
10	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
11	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
12	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
13	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
14	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
15	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
16	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
17	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
18	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
19	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
20	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
21	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
22	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
23	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
24	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
25	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
26	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
27	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
28	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
29	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
30	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
31	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
32	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
33	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
34	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
35	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:

No data

Extended variants
information (count: 1514 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1514 , 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	rs12202231	chr6:140780603-140780604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188573373	chr6:140780612-140780613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191528622	chr6:140780622-140780623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549244051	chr6:140780626-140780627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557957143	chr6:140780639-140780640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545137029	chr6:140780669-140780670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567459179	chr6:140780686-140780687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537998148	chr6:140780697-140780698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376658429	chr6:140780776-140780777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577776837	chr6:140780782-140780783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3850223	chr6:140780824-140780825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578217785	chr6:140780830-140780831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538671797	chr6:140780837-140780838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554123002	chr6:140780863-140780864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183910866	chr6:140780913-140780914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150052116	chr6:140780928-140780929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536547746	chr6:140780960-140780961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76108935	chr6:140780983-140780984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189083273	chr6:140781027-140781028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370355070	chr6:140781033-140781034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563941350	chr6:140781051-140781052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542600680	chr6:140781053-140781054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555854277	chr6:140781068-140781069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574372600	chr6:140781071-140781072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73777335	chr6:140781077-140781078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181702028	chr6:140781123-140781124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377639456	chr6:140781162-140781163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560087864	chr6:140781225-140781226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527629257	chr6:140781283-140781284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149252167	chr6:140781292-140781293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544453950	chr6:140781306-140781307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561119804	chr6:140781312-140781313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531558381	chr6:140781323-140781324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549967928	chr6:140781324-140781325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571684640	chr6:140781383-140781384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561014865	chr6:140781484-140781485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543271882	chr6:140781558-140781559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187672318	chr6:140781605-140781606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536206155	chr6:140781622-140781623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554848483	chr6:140781645-140781646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562550212	chr6:140781652-140781653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114372036	chr6:140781705-140781706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537279955	chr6:140781713-140781714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9495719	chr6:140781732-140781733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577709851	chr6:140781776-140781777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190205608	chr6:140781787-140781788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553545394	chr6:140781791-140781792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572071716	chr6:140781817-140781818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113035254	chr6:140781825-140781826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369737763	chr6:140781835-140781836	Enhancers 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:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140774200-140783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140779800-140784000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:140780200-140780800	Enhancers	NHEK	skin
4	chr6:140780600-140780800	Enhancers	NHLF	lung
5	chr6:140780600-140783200	Weak transcription	HSMMtube	muscle
6	chr6:140780800-140782400	Weak transcription	NHLF	lung
7	chr6:140780800-140783200	Weak transcription	NHEK	skin
8	chr6:140781400-140783800	Enhancers	Liver	Liver
9	chr6:140781600-140782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:140781800-140782000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:140782000-140783400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:140782400-140783000	Enhancers	Ovary	ovary
13	chr6:140782400-140783600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:140782400-140785200	Enhancers	NHLF	lung
15	chr6:140782400-140786000	Enhancers	NHDF-Ad	bronchial
16	chr6:140782600-140783200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:140782600-140784800	Enhancers	Adipose Nuclei	Adipose
18	chr6:140782800-140784800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:140783000-140783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:140783000-140783200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:140783000-140784000	Weak transcription	Ovary	ovary
22	chr6:140783000-140784800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:140783000-140785200	Enhancers	Osteobl	bone
24	chr6:140783000-140786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:140783200-140783600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:140783200-140783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:140783200-140784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:140783200-140784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:140783200-140784200	Enhancers	NHEK	skin
30	chr6:140783200-140784400	Enhancers	Hela-S3	cervix
31	chr6:140783200-140784400	Enhancers	HMEC	breast
32	chr6:140783200-140784800	Enhancers	Fetal Lung	lung
33	chr6:140783200-140785000	Enhancers	HSMMtube	muscle
34	chr6:140783200-140785200	Enhancers	HSMM	muscle
35	chr6:140783200-140785800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:140783400-140784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:140783400-140785000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:140783400-140785000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:140783400-140785200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr6:140783600-140784000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:140783600-140784600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:140783600-140784600	Enhancers	NH-A	brain
43	chr6:140783600-140784800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:140783600-140785000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:140783800-140784600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:140783800-140784600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:140783800-140784600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr6:140783800-140784600	Enhancers	HUVEC	blood vessel
49	chr6:140783800-140784800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:140783800-140784800	Flanking Active TSS	Liver	Liver

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