Variant report

Variant	esv3435471
Chromosome Location	chr6:76493582-76494093
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	chr6:76456988..76460628-chr6:76493059..76496718,4	MCF-7	breast:
2	chr6:76307687..76309384-chr6:76493357..76494955,2	K562	blood:

Variant related genes	Relation type
ENSG00000196586	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71544071	chr6:76493588-76493589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148868836	chr6:76493652-76493653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530491834	chr6:76493679-76493680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12195608	chr6:76493680-76493681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543308261	chr6:76493683-76493684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548979474	chr6:76493709-76493710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567209515	chr6:76493735-76493736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534718528	chr6:76493743-76493744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182116631	chr6:76493744-76493745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561589790	chr6:76493758-76493759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565924011	chr6:76493787-76493788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539677422	chr6:76493790-76493791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376904770	chr6:76493842-76493843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528648169	chr6:76493850-76493851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144312844	chr6:76493856-76493857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577622117	chr6:76493878-76493879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113629180	chr6:76493885-76493886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540477972	chr6:76493923-76493924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574000582	chr6:76493924-76493925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186591597	chr6:76493930-76493931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559922215	chr6:76493977-76493978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533141468	chr6:76494085-76494086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565512757	chr6:76494088-76494089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76472600-76528000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:76485400-76501600	Weak transcription	Left Ventricle	heart
3	chr6:76485400-76502200	Weak transcription	Brain Angular Gyrus	brain
4	chr6:76485400-76523000	Weak transcription	Lung	lung
5	chr6:76490000-76501800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:76491200-76523000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:76491400-76506400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:76491600-76501400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:76491800-76493600	Enhancers	Hela-S3	cervix
10	chr6:76492000-76495400	Weak transcription	K562	blood
11	chr6:76492400-76494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:76492400-76496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:76492400-76496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:76492400-76499400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:76492400-76501400	Weak transcription	Brain Anterior Caudate	brain
16	chr6:76492400-76523000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:76492600-76499600	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:76492600-76501800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:76493400-76493600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr6:76493600-76500000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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