Variant report

Variant	nsv886692
Chromosome Location	chr6:140111650-140155090
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	chr6:140109282..140111631-chr6:140114175..140116181,2	K562	blood:
2	chr6:140140102..140141609-chr6:140143434..140145360,2	K562	blood:
3	chr6:140144961..140147282-chr6:140158206..140160311,2	K562	blood:
4	chr6:140101468..140104254-chr6:140123458..140124998,2	K562	blood:
5	chr6:140143350..140145864-chr6:140147997..140150227,3	K562	blood:
6	chr6:140143575..140149328-chr6:140151123..140155301,5	MCF-7	breast:
7	chr6:139693600..139695458-chr6:140131244..140133908,2	K562	blood:
8	chr6:139694383..139697089-chr6:140144858..140146538,2	MCF-7	breast:
9	chr6:140086666..140088704-chr6:140112529..140114998,2	K562	blood:
10	chr6:140143350..140145864-chr6:140147997..140150227,3	K562	blood:
11	chr6:139694861..139698914-chr6:140150026..140153198,5	K562	blood:
12	chr6:140137505..140139416-chr6:140141678..140144542,3	K562	blood:
13	chr6:140137505..140139416-chr6:140141678..140144542,3	K562	blood:
14	chr6:140147200..140149310-chr6:140258433..140260854,2	K562	blood:
15	chr6:140140156..140142876-chr6:140150125..140152606,2	K562	blood:
16	chr6:140128805..140131673-chr6:141152750..141154839,2	K562	blood:
17	chr6:140148096..140149625-chr6:140150538..140152679,2	K562	blood:
18	chr6:139694026..139696985-chr6:140124355..140126550,2	K562	blood:
19	chr6:140148096..140149625-chr6:140150538..140152679,2	K562	blood:
20	chr6:140151820..140155289-chr6:140156811..140159238,3	K562	blood:
21	chr6:140140156..140142876-chr6:140150125..140152606,2	K562	blood:
22	chr6:139695107..139696860-chr6:140141240..140143122,2	K562	blood:
23	chr6:140133269..140136209-chr6:140137341..140139354,2	MCF-7	breast:
24	chr6:140145227..140147180-chr6:140155526..140157728,3	K562	blood:
25	chr6:140133269..140136209-chr6:140137341..140139354,2	MCF-7	breast:
26	chr6:139773415..139775962-chr6:140133812..140135963,2	K562	blood:
27	chr6:140143575..140149328-chr6:140151123..140155301,5	MCF-7	breast:
28	chr6:140148977..140151399-chr6:140177571..140180376,2	K562	blood:
29	chr6:140123522..140126295-chr6:140134268..140137009,2	K562	blood:
30	chr6:139694287..139696985-chr6:140124308..140125855,2	K562	blood:
31	chr6:140140102..140141609-chr6:140143434..140145360,2	K562	blood:
32	chr6:140147996..140150360-chr6:140164145..140166943,2	MCF-7	breast:
33	chr6:140143855..140145864-chr6:140148149..140150227,2	K562	blood:
34	chr6:140123522..140126295-chr6:140134268..140137009,2	K562	blood:
35	chr6:140143855..140145864-chr6:140148149..140150227,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 822 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147016642	chr6:140117416-140117417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12526034	chr6:140117433-140117434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531619933	chr6:140117435-140117436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6933569	chr6:140117456-140117457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs571868880	chr6:140117469-140117470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539347282	chr6:140117499-140117500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76187019	chr6:140117519-140117520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191143399	chr6:140117536-140117537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533868595	chr6:140117605-140117606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147635675	chr6:140117621-140117622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183286921	chr6:140117659-140117660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543880584	chr6:140117668-140117669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556392493	chr6:140117673-140117674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60052799	chr6:140117708-140117709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73775696	chr6:140117729-140117730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559904641	chr6:140117792-140117793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187817079	chr6:140120803-140120804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114453752	chr6:140120885-140120886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368841363	chr6:140120891-140120892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145414594	chr6:140120893-140120894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559036046	chr6:140120897-140120898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529627878	chr6:140120903-140120904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548144188	chr6:140120924-140120925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192763991	chr6:140121008-140121009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530824571	chr6:140121019-140121020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183167955	chr6:140121025-140121026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147652244	chr6:140121028-140121029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570613509	chr6:140121060-140121061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187399319	chr6:140121078-140121079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553477334	chr6:140121143-140121144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568521059	chr6:140121147-140121148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114019573	chr6:140121184-140121185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550364386	chr6:140121189-140121190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570271733	chr6:140121205-140121206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575598787	chr6:140121209-140121210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142273114	chr6:140121211-140121212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558041971	chr6:140121230-140121231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116478504	chr6:140121318-140121319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6934955	chr6:140121380-140121381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538299319	chr6:140122084-140122085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563246689	chr6:140122098-140122099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537275779	chr6:140122196-140122197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74905171	chr6:140122291-140122292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545795405	chr6:140122333-140122334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564105283	chr6:140122376-140122377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148320140	chr6:140122413-140122414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558402763	chr6:140122439-140122440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546962835	chr6:140122465-140122466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561876834	chr6:140122597-140122598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528263670	chr6:140123003-140123004	Enhancers	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
Breast cancer	21785460	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 myeloid leukemia	21251322	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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140117400-140117800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr6:140120800-140121400	Enhancers	Ovary	ovary
3	chr6:140122000-140122400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:140122200-140122600	Enhancers	Duodenum Mucosa	Duodenum
5	chr6:140122200-140122600	Enhancers	Fetal Intestine Large	intestine
6	chr6:140123000-140123400	Enhancers	Fetal Intestine Small	intestine
7	chr6:140123000-140123400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:140123400-140125400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:140125200-140126200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:140125400-140126800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr6:140125400-140127000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:140125600-140126800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:140139200-140143400	Enhancers	NHDF-Ad	bronchial
14	chr6:140139400-140141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:140139400-140142400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:140139400-140142400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:140139400-140142600	Enhancers	Osteobl	bone
18	chr6:140139600-140142400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:140139800-140140200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:140139800-140141200	Enhancers	HUVEC	blood vessel
21	chr6:140140200-140140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:140140400-140142600	Enhancers	NHLF	lung
23	chr6:140140600-140142400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:140140800-140141200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:140140800-140142400	Enhancers	NH-A	brain
26	chr6:140141000-140141200	Enhancers	Placenta	Placenta
27	chr6:140141000-140141600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:140141000-140142000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:140141000-140142400	Enhancers	Hela-S3	cervix
30	chr6:140141200-140141400	Flanking Active TSS	HUVEC	blood vessel
31	chr6:140141400-140141600	Enhancers	HUVEC	blood vessel
32	chr6:140141400-140145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:140141600-140141800	Flanking Active TSS	HUVEC	blood vessel
34	chr6:140141800-140143200	Enhancers	HUVEC	blood vessel
35	chr6:140142000-140142200	Enhancers	Aorta	Aorta
36	chr6:140142000-140143000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr6:140142200-140144400	Enhancers	K562	blood
38	chr6:140142200-140160800	Weak transcription	Aorta	Aorta
39	chr6:140142400-140142800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:140143200-140144400	Weak transcription	HUVEC	blood vessel
41	chr6:140143400-140146200	Weak transcription	NHDF-Ad	bronchial
42	chr6:140144400-140144800	Flanking Active TSS	K562	blood
43	chr6:140144400-140145200	Enhancers	HUVEC	blood vessel
44	chr6:140144800-140145200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr6:140144800-140146800	Enhancers	K562	blood
46	chr6:140145000-140146600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:140146600-140150200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:140146800-140147400	Flanking Active TSS	K562	blood
49	chr6:140147400-140148200	Enhancers	K562	blood
50	chr6:140147800-140150200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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