Variant report

Variant	nsv1020357
Chromosome Location	chr6:160849895-160883394
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160853874..160856823-chr6:160860692..160863222,2	K562	blood:
2	chr6:160559129..160560035-chr6:160876676..160877443,6	MCF-7	breast:
3	chr6:160054179..160054998-chr6:160876576..160877179,2	K562	blood:
4	chr6:160838522..160841226-chr6:160849057..160850823,2	K562	blood:
5	chr6:160853874..160856823-chr6:160860692..160863222,2	K562	blood:
6	chr6:160527777..160530096-chr6:160849436..160852086,2	K562	blood:
7	chr6:160876378..160878345-chr6:160878761..160881634,2	K562	blood:
8	chr6:160876814..160877519-chr6:161088556..161089198,2	MCF-7	breast:
9	chr6:160862572..160864358-chr6:160864596..160867133,2	K562	blood:
10	chr6:160847266..160849936-chr6:160858679..160861439,2	K562	blood:
11	chr6:160876699..160877379-chr6:160954968..160955609,2	K562	blood:
12	chr6:160876378..160878345-chr6:160878761..160881634,2	K562	blood:
13	chr6:160847266..160849936-chr6:160858679..160861439,2	K562	blood:
14	chr6:160558114..160558643-chr6:160876721..160877596,2	MCF-7	breast:
15	chr6:160845181..160849132-chr6:160849352..160851032,3	K562	blood:
16	chr6:160876729..160877411-chr6:161088842..161089583,2	K562	blood:
17	chr6:160509117..160510000-chr6:160876739..160877584,3	MCF-7	breast:
18	chr6:160863263..160866242-chr6:160869200..160873067,3	K562	blood:
19	chr6:160863263..160866242-chr6:160869200..160873067,3	K562	blood:
20	chr6:160862572..160864358-chr6:160864596..160867133,2	K562	blood:
21	chr6:160876492..160879466-chr6:160895352..160897823,2	K562	blood:
22	chr6:160559166..160560422-chr6:160876706..160877623,9	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC22A3	hsa-miR-9-5p	chr6:160873275-160873301
2	SLC22A3	hsa-miR-124-3p	chr6:160872148-160872154

Variant related genes	Relation type
ENSG00000270949	chromatin interactions

Extended variants
information (count: 1265 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111555861	chr6:160849899-160849900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185440335	chr6:160849900-160849901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527437098	chr6:160849908-160849909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190363627	chr6:160849934-160849935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182201047	chr6:160850050-160850051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542403678	chr6:160850068-160850069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375722523	chr6:160850194-160850195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3106164	chr6:160850273-160850274	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187213044	chr6:160850293-160850294	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188013424	chr6:160850321-160850322	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530945023	chr6:160850377-160850378	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569656333	chr6:160850378-160850379	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535489338	chr6:160850417-160850418	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180925448	chr6:160850438-160850439	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565647620	chr6:160850492-160850493	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528239522	chr6:160850503-160850504	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113731898	chr6:160850537-160850538	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370081835	chr6:160850631-160850632	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185406890	chr6:160850670-160850671	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577846180	chr6:160850687-160850688	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35519283	chr6:160850693-160850694	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372521371	chr6:160850706-160850707	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190269023	chr6:160850734-160850735	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573697962	chr6:160850784-160850785	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374867920	chr6:160850801-160850802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564349515	chr6:160850808-160850809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533127767	chr6:160850837-160850838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148961501	chr6:160850882-160850883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190938128	chr6:160850895-160850896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2661834	chr6:160850911-160850912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs55995544	chr6:160850962-160850963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150152039	chr6:160850991-160850992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528595168	chr6:160850994-160850995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545511619	chr6:160851001-160851002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550693934	chr6:160851124-160851125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564108354	chr6:160851153-160851154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138637170	chr6:160851194-160851195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200325531	chr6:160851242-160851243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183425169	chr6:160851273-160851274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375612741	chr6:160851341-160851342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569968513	chr6:160851382-160851383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548953610	chr6:160851399-160851400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143699563	chr6:160851468-160851469	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs397722625	chr6:160851469-160851470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548717807	chr6:160851528-160851529	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370693746	chr6:160851560-160851561	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565740068	chr6:160851613-160851614	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534399385	chr6:160851624-160851625	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551489080	chr6:160851696-160851697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186784591	chr6:160851701-160851702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160818600-160876800	Weak transcription	Esophagus	oesophagus
2	chr6:160842800-160850200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:160843800-160851400	Weak transcription	Fetal Brain Male	brain
4	chr6:160845400-160850000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:160847400-160851000	Enhancers	Ovary	ovary
6	chr6:160847400-160852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:160847600-160851000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:160847800-160850000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:160847800-160850400	Enhancers	Left Ventricle	heart
10	chr6:160847800-160850800	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:160847800-160850800	Enhancers	Psoas Muscle	Psoas
12	chr6:160847800-160851000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:160847800-160853200	Enhancers	Adipose Nuclei	Adipose
14	chr6:160848000-160850200	Weak transcription	HepG2	liver
15	chr6:160848000-160850600	Enhancers	Right Atrium	heart
16	chr6:160848000-160853000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:160848200-160851000	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:160848200-160851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:160848400-160850800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr6:160848400-160851800	Enhancers	Colon Smooth Muscle	Colon
21	chr6:160848600-160850000	Weak transcription	Placenta	Placenta
22	chr6:160848600-160850000	Weak transcription	Gastric	stomach
23	chr6:160848600-160850800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:160848600-160851600	Weak transcription	Brain Germinal Matrix	brain
25	chr6:160848600-160856800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:160848800-160850400	Weak transcription	A549	lung
27	chr6:160848800-160851600	Weak transcription	Brain Substantia Nigra	brain
28	chr6:160848800-160851800	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:160849200-160851400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:160849400-160850600	Weak transcription	Fetal Stomach	stomach
31	chr6:160849400-160851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:160849400-160866200	Weak transcription	Lung	lung
33	chr6:160849600-160850200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:160849600-160850400	Weak transcription	Aorta	Aorta
35	chr6:160849600-160851600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:160849600-160851600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:160849600-160851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:160849600-160851600	Weak transcription	Fetal Lung	lung
39	chr6:160849600-160851600	Weak transcription	Osteobl	bone
40	chr6:160849600-160851800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:160849600-160851800	Weak transcription	HSMM	muscle
42	chr6:160849600-160851800	Weak transcription	HSMMtube	muscle
43	chr6:160849600-160852800	Weak transcription	NHEK	skin
44	chr6:160849600-160858400	Weak transcription	Liver	Liver
45	chr6:160849800-160850400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:160849800-160850400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:160849800-160851000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:160849800-160852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:160850000-160850800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:160850000-160850800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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