Variant report

Variant	nsv969462
Chromosome Location	chr6:160872549-160875136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160863263..160866242-chr6:160869200..160873067,3	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC22A3	hsa-miR-9-5p	chr6:160873275-160873301

Extended variants
information (count: 110 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112018187	chr6:160872589-160872590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79466232	chr6:160872602-160872603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3088441	chr6:160872609-160872610	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs190765476	chr6:160872626-160872627	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115069429	chr6:160872648-160872649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3088442	chr6:160872652-160872653	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73592949	chr6:160872666-160872667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372517273	chr6:160872677-160872678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180800333	chr6:160872707-160872708	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1050898	chr6:160872737-160872738	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376065278	chr6:160872781-160872782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2076828	chr6:160872786-160872787	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138683758	chr6:160872807-160872808	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs141962834	chr6:160872849-160872850	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs185246709	chr6:160872856-160872857	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs564065138	chr6:160872864-160872865	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs41267801	chr6:160872866-160872867	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146317414	chr6:160872891-160872892	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs543702784	chr6:160872968-160872969	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs72552766	chr6:160872979-160872980	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs529425167	chr6:160872990-160872991	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181062898	chr6:160872999-160873000	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs41267803	chr6:160873008-160873009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111808074	chr6:160873087-160873088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191476883	chr6:160873093-160873094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115391354	chr6:160873165-160873166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537090951	chr6:160873166-160873167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375258349	chr6:160873211-160873212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143361248	chr6:160873213-160873214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62440430	chr6:160873297-160873298	Weak transcription Strong transcription	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571276725	chr6:160873319-160873320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182097457	chr6:160873342-160873343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1050908	chr6:160873364-160873365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72552767	chr6:160873365-160873366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572152387	chr6:160873380-160873381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187135071	chr6:160873392-160873393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557811476	chr6:160873439-160873440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566641877	chr6:160873441-160873442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527258791	chr6:160873504-160873505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181946142	chr6:160873575-160873576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184529888	chr6:160873579-160873580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142685529	chr6:160873585-160873586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373227049	chr6:160873589-160873590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144564212	chr6:160873602-160873603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535224379	chr6:160873623-160873624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113867363	chr6:160873644-160873645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562966356	chr6:160873668-160873669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573368680	chr6:160873700-160873701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34906031	chr6:160873721-160873722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371530148	chr6:160873792-160873793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160818600-160876800	Weak transcription	Esophagus	oesophagus
2	chr6:160852600-160876800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:160853600-160875200	Weak transcription	Ovary	ovary
4	chr6:160859200-160876000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:160861000-160875200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:160863600-160882800	Weak transcription	Gastric	stomach
7	chr6:160864000-160876000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:160864400-160876600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:160866400-160876000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:160866600-160875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:160866600-160876200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:160866600-160876600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:160866600-160883800	Weak transcription	Spleen	Spleen
14	chr6:160867000-160877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:160867200-160876800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:160867400-160876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:160868800-160874000	Weak transcription	A549	lung
18	chr6:160868800-160875000	Weak transcription	Aorta	Aorta
19	chr6:160868800-160876600	Weak transcription	Placenta	Placenta
20	chr6:160870400-160872600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:160870400-160876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:160871000-160872800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:160871800-160876000	Strong transcription	Liver	Liver
24	chr6:160872200-160872800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:160872200-160872800	Strong transcription	HepG2	liver
26	chr6:160872400-160872800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:160872600-160873000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:160872800-160873000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr6:160872800-160873400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:160872800-160875200	Weak transcription	HepG2	liver
31	chr6:160872800-160876000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:160872800-160876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:160873000-160876000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:160873400-160876400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:160874000-160875600	Strong transcription	A549	lung
36	chr6:160874600-160875200	Enhancers	Fetal Brain Male	brain
37	chr6:160875000-160875200	Enhancers	Aorta	Aorta

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