Variant report

Variant	nsv965659
Chromosome Location	chr6:110555126-110561922
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	chr6:110550718..110552585-chr6:110556017..110558583,2	K562	blood:

Extended variants
information (count: 236 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531147926	chr6:110555136-110555137	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556977687	chr6:110555178-110555179	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116887564	chr6:110555180-110555181	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115687085	chr6:110555192-110555193	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571674839	chr6:110555251-110555252	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550858915	chr6:110555270-110555271	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138099365	chr6:110555336-110555337	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567441430	chr6:110555362-110555363	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186395423	chr6:110555376-110555377	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9487321	chr6:110555401-110555402	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs190126519	chr6:110555463-110555464	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9481048	chr6:110555467-110555468	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181695246	chr6:110555471-110555472	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543590607	chr6:110555476-110555477	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144941869	chr6:110555497-110555498	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs186042762	chr6:110555595-110555596	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549182694	chr6:110555616-110555617	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559554086	chr6:110555700-110555701	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375396143	chr6:110555773-110555774	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191204115	chr6:110555789-110555790	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138814331	chr6:110555808-110555809	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571164640	chr6:110555886-110555887	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183875886	chr6:110555996-110555997	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530517309	chr6:110556007-110556008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550451115	chr6:110556026-110556027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567002048	chr6:110556037-110556038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535688416	chr6:110556099-110556100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34234484	chr6:110556104-110556105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113414055	chr6:110556165-110556166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555559562	chr6:110556175-110556176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12190969	chr6:110556211-110556212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12190971	chr6:110556214-110556215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56197201	chr6:110556235-110556236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538603084	chr6:110556243-110556244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535013522	chr6:110556256-110556257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558815844	chr6:110556280-110556281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536537144	chr6:110556326-110556327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13209713	chr6:110556327-110556328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56412479	chr6:110556346-110556347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558416285	chr6:110556379-110556380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558369669	chr6:110556383-110556384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377432824	chr6:110556387-110556388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9487322	chr6:110556388-110556389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569023949	chr6:110556392-110556393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577993186	chr6:110556397-110556398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543776513	chr6:110556398-110556399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188870544	chr6:110556399-110556400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574197188	chr6:110556402-110556403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370405545	chr6:110556408-110556409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373766019	chr6:110556415-110556416	Weak transcription	n/a	n/a	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:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110528200-110557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:110530000-110556400	Weak transcription	Small Intestine	intestine
3	chr6:110530800-110558400	Weak transcription	Stomach Mucosa	stomach
4	chr6:110537800-110558600	Weak transcription	Gastric	stomach
5	chr6:110539000-110563600	Weak transcription	Lung	lung
6	chr6:110539000-110580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:110539200-110558200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:110539200-110560000	Weak transcription	Esophagus	oesophagus
9	chr6:110539400-110558400	Weak transcription	Fetal Brain Male	brain
10	chr6:110539400-110558600	Weak transcription	HUVEC	blood vessel
11	chr6:110540000-110567000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:110541200-110567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:110541600-110555200	Weak transcription	HSMMtube	muscle
14	chr6:110543000-110555200	Weak transcription	Hela-S3	cervix
15	chr6:110544200-110556800	Weak transcription	HMEC	breast
16	chr6:110544600-110566400	Weak transcription	Fetal Stomach	stomach
17	chr6:110547000-110576600	Weak transcription	Pancreas	Pancrea
18	chr6:110548200-110556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:110548800-110558600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:110549000-110562400	Weak transcription	Psoas Muscle	Psoas
21	chr6:110549000-110567400	Weak transcription	Fetal Intestine Large	intestine
22	chr6:110549200-110559000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:110549400-110555200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:110549400-110555200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:110549400-110555200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:110549400-110557000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:110549400-110557000	Weak transcription	Fetal Lung	lung
28	chr6:110549400-110558400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:110549400-110560800	Weak transcription	K562	blood
30	chr6:110549400-110561000	Weak transcription	NH-A	brain
31	chr6:110549400-110561800	Weak transcription	Fetal Brain Female	brain
32	chr6:110549400-110562200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:110549400-110580400	Weak transcription	Brain Angular Gyrus	brain
34	chr6:110549600-110559000	Weak transcription	Thymus	Thymus
35	chr6:110549600-110560000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:110549600-110562000	Weak transcription	Brain Germinal Matrix	brain
37	chr6:110549600-110568600	Weak transcription	Left Ventricle	heart
38	chr6:110550600-110608200	Weak transcription	Fetal Kidney	kidney
39	chr6:110550800-110555200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:110550800-110557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:110550800-110566400	Weak transcription	Ovary	ovary
42	chr6:110550800-110567200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:110551000-110555200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:110551000-110559600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:110551200-110560200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:110551400-110555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:110551400-110556600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:110551400-110556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:110551400-110557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:110551400-110558400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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