Variant report

Variant	nsv1020928
Chromosome Location	chr6:162392836-162601215
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
2	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
3	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
4	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
7	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
8	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
9	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
10	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
11	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
12	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
13	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
14	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
15	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
16	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
17	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
18	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
19	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
20	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:

No data

Extended variants
information (count: 6757 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:6757 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542123410	chr6:162392850-162392851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560919095	chr6:162392861-162392862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193119673	chr6:162392870-162392871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12194272	chr6:162392883-162392884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11964796	chr6:162392902-162392903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149846418	chr6:162392947-162392948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553589186	chr6:162392996-162392997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183107041	chr6:162393044-162393045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113168369	chr6:162393047-162393048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552453936	chr6:162393058-162393059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3016544	chr6:162393065-162393066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531880787	chr6:162393077-162393078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548876592	chr6:162393104-162393105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3016542	chr6:162393121-162393122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558118832	chr6:162393123-162393124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199926576	chr6:162393133-162393134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547465277	chr6:162393135-162393136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113874562	chr6:162393136-162393137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570407023	chr6:162393145-162393146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539532134	chr6:162393219-162393220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375665312	chr6:162393255-162393256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576376867	chr6:162393275-162393276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79542667	chr6:162393306-162393307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200859731	chr6:162393307-162393308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75782846	chr6:162393308-162393309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113203002	chr6:162393328-162393329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576208560	chr6:162393346-162393347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377612638	chr6:162393394-162393395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555228842	chr6:162393401-162393402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572053823	chr6:162393426-162393427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540187680	chr6:162393452-162393453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560123415	chr6:162393453-162393454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577232383	chr6:162393472-162393473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117525926	chr6:162393517-162393518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113444853	chr6:162393547-162393548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139480544	chr6:162393560-162393561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531916612	chr6:162393633-162393634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55674794	chr6:162393634-162393635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73026551	chr6:162393642-162393643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527994870	chr6:162393673-162393674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547376649	chr6:162393676-162393677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144318900	chr6:162393687-162393688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186679546	chr6:162393718-162393719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549828347	chr6:162393730-162393731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569687618	chr6:162393762-162393763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191086582	chr6:162393786-162393787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541634615	chr6:162393792-162393793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571966053	chr6:162393797-162393798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534617172	chr6:162393806-162393807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371350014	chr6:162393870-162393871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Gastric cancer	17908304	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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162382800-162396600	Weak transcription	Aorta	Aorta
2	chr6:162391000-162394600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:162392600-162395000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:162392600-162395600	Weak transcription	Adipose Nuclei	Adipose
5	chr6:162394200-162394800	Enhancers	Fetal Kidney	kidney
6	chr6:162394400-162394800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:162394600-162395400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:162395000-162396400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:162395400-162396000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:162395400-162400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:162395600-162396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:162396400-162399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:162396600-162397000	ZNF genes & repeats	Aorta	Aorta
14	chr6:162397200-162397400	Weak transcription	Gastric	stomach
15	chr6:162397400-162397600	Enhancers	Gastric	stomach
16	chr6:162399600-162400000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:162400000-162405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:162401400-162401800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:162401400-162401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:162401400-162401800	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:162401800-162405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:162401800-162405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:162405800-162407400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:162405800-162408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:162405800-162408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:162406200-162406400	Enhancers	Fetal Intestine Small	intestine
27	chr6:162407400-162410800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:162410400-162411200	ZNF genes & repeats	Aorta	Aorta
29	chr6:162410600-162411400	ZNF genes & repeats	Pancreas	Pancrea
30	chr6:162411000-162411200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:162411400-162416600	Weak transcription	Pancreas	Pancrea
32	chr6:162413200-162413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:162418600-162419800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:162425400-162425600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162425600-162427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:162425600-162427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:162435000-162435200	Enhancers	HepG2	liver
38	chr6:162435200-162435600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:162435200-162435600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:162435200-162435600	Flanking Active TSS	HepG2	liver
41	chr6:162437800-162438000	ZNF genes & repeats	Pancreas	Pancrea
42	chr6:162438000-162444600	Weak transcription	Pancreas	Pancrea
43	chr6:162444200-162444600	Enhancers	Stomach Mucosa	stomach
44	chr6:162444600-162444800	ZNF genes & repeats	Pancreas	Pancrea
45	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
46	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
47	chr6:162446400-162449800	Weak transcription	Ovary	ovary
48	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
49	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum

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