Variant report

Variant	nsv981172
Chromosome Location	chr6:110551282-110553172
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:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110550718..110552585-chr6:110556017..110558583,2	K562	blood:
2	chr6:110521889..110524883-chr6:110552437..110554588,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR6-1	chr6:110552655-110552835	ENSG00000244179.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDC40	hsa-miR-155-5p	chr6:110552894-110552917

Variant related genes	Relation type
ENSG00000168438	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114513867	chr6:110551345-110551346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372751527	chr6:110551376-110551377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143209780	chr6:110551409-110551410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562527067	chr6:110551410-110551411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75127883	chr6:110551444-110551445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56070461	chr6:110551489-110551490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs55721034	chr6:110551544-110551545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572826567	chr6:110551553-110551554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112807304	chr6:110551570-110551571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62435907	chr6:110551584-110551585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547197472	chr6:110551587-110551588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560631924	chr6:110551650-110551651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532859453	chr6:110551713-110551714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538908331	chr6:110551777-110551778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552545922	chr6:110551815-110551816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569241299	chr6:110551876-110551877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537840871	chr6:110551992-110551993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548709296	chr6:110552027-110552028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568193329	chr6:110552039-110552040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376844870	chr6:110552077-110552078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141045045	chr6:110552148-110552149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553566864	chr6:110552174-110552175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182984077	chr6:110552314-110552315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539724700	chr6:110552376-110552377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558512059	chr6:110552417-110552418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556143968	chr6:110552424-110552425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186295995	chr6:110552425-110552426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536796872	chr6:110552429-110552430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190662455	chr6:110552452-110552453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182903299	chr6:110552503-110552504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572157666	chr6:110552526-110552527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9487320	chr6:110552576-110552577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147564952	chr6:110552580-110552581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532554600	chr6:110552637-110552638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554666823	chr6:110552642-110552643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1140054	chr6:110552690-110552691	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs187972878	chr6:110552830-110552831	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs192459474	chr6:110552831-110552832	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs563036501	chr6:110552848-110552849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375224144	chr6:110552922-110552923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531758747	chr6:110552964-110552965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554796616	chr6:110553002-110553003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375802147	chr6:110553004-110553005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548161882	chr6:110553013-110553014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182425288	chr6:110553048-110553049	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527803452	chr6:110553073-110553074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547440600	chr6:110553139-110553140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110512200-110552200	Weak transcription	Right Ventricle	heart
2	chr6:110522400-110553200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:110527600-110551400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:110528000-110552800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr6:110528200-110557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:110528600-110551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:110528800-110551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:110528800-110551400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:110528800-110551400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:110528800-110551600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:110528800-110551600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:110528800-110552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:110529000-110551400	Strong transcription	Primary B cells from cord blood	blood
14	chr6:110529400-110551400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:110530000-110556400	Weak transcription	Small Intestine	intestine
16	chr6:110530600-110551600	Strong transcription	Fetal Thymus	thymus
17	chr6:110530800-110558400	Weak transcription	Stomach Mucosa	stomach
18	chr6:110531400-110552400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr6:110532000-110551400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:110532800-110552000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:110536000-110551400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:110537400-110554800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:110537800-110555000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:110537800-110558600	Weak transcription	Gastric	stomach
25	chr6:110539000-110551400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:110539000-110554000	Weak transcription	Aorta	Aorta
27	chr6:110539000-110563600	Weak transcription	Lung	lung
28	chr6:110539000-110580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:110539200-110552800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:110539200-110558200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:110539200-110560000	Weak transcription	Esophagus	oesophagus
32	chr6:110539400-110558400	Weak transcription	Fetal Brain Male	brain
33	chr6:110539400-110558600	Weak transcription	HUVEC	blood vessel
34	chr6:110540000-110567000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:110541200-110567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:110541600-110555200	Weak transcription	HSMMtube	muscle
37	chr6:110542600-110553400	Weak transcription	Osteobl	bone
38	chr6:110542600-110555000	Weak transcription	Colonic Mucosa	Colon
39	chr6:110542600-110555000	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:110543000-110555200	Weak transcription	Hela-S3	cervix
41	chr6:110544000-110552200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:110544200-110556800	Weak transcription	HMEC	breast
43	chr6:110544600-110566400	Weak transcription	Fetal Stomach	stomach
44	chr6:110545400-110551400	Strong transcription	Adipose Nuclei	Adipose
45	chr6:110545800-110551400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:110546000-110551400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:110546000-110551400	Strong transcription	Liver	Liver
48	chr6:110546000-110551400	Strong transcription	Dnd41	blood
49	chr6:110546600-110551400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:110546600-110551400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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