Variant report

Variant	esv3506565
Chromosome Location	chr6:163743907-163744088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163743943..163749523-chr6:163832972..163838830,12	MCF-7	breast:
2	chr6:163743568..163746151-chr6:163758711..163760918,2	K562	blood:
3	chr6:163742095..163749894-chr6:163832230..163837162,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270419	chromatin interactions
ENSG00000112531	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72503811	chr6:163743954-163743955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6919154	chr6:163743975-163743976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6938932	chr6:163743982-163743983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
4	rs111845366	chr6:163743986-163743987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112959568	chr6:163743990-163743991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6940266	chr6:163743994-163743995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141398860	chr6:163743998-163743999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs6923793	chr6:163744002-163744003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199825754	chr6:163744009-163744010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12530319	chr6:163744013-163744014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62428048	chr6:163744027-163744028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6919182	chr6:163744030-163744031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6940285	chr6:163744032-163744033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28633940	chr6:163744044-163744045	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6919191	chr6:163744055-163744056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529696925	chr6:163744064-163744065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113189604	chr6:163744067-163744068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62428049	chr6:163744071-163744072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142054228	chr6:163744083-163744084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201773777	chr6:163744087-163744088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163732000-163749600	Weak transcription	Spleen	Spleen
2	chr6:163736200-163745800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:163737200-163744800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:163740000-163744400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:163740000-163745600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:163740200-163746000	Weak transcription	Psoas Muscle	Psoas
7	chr6:163740200-163746200	Weak transcription	Lung	lung
8	chr6:163741000-163744600	Enhancers	Brain Anterior Caudate	brain
9	chr6:163741400-163744400	Enhancers	Brain Hippocampus Middle	brain
10	chr6:163741400-163744400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:163741400-163746600	Enhancers	Adipose Nuclei	Adipose
12	chr6:163741600-163744400	Enhancers	Brain Substantia Nigra	brain
13	chr6:163741800-163744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:163741800-163744600	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:163741800-163745400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:163742000-163744400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:163742000-163744400	Weak transcription	A549	lung
18	chr6:163742200-163744600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:163742400-163744800	Enhancers	Pancreas	Pancrea
20	chr6:163742600-163744600	Weak transcription	Brain Angular Gyrus	brain
21	chr6:163742800-163744400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:163742800-163746200	Weak transcription	Ovary	ovary
23	chr6:163743000-163744000	Weak transcription	Right Atrium	heart
24	chr6:163743000-163744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:163743000-163744600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:163743200-163744800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:163743400-163744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:163743400-163744400	Weak transcription	Right Ventricle	heart
29	chr6:163743400-163744400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:163743400-163744400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:163743400-163748600	Weak transcription	Left Ventricle	heart
32	chr6:163743400-163749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:163743600-163744000	Weak transcription	Liver	Liver
34	chr6:163743600-163744600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:163743600-163745600	Weak transcription	Fetal Heart	heart
36	chr6:163744000-163744200	Enhancers	Liver	Liver
37	chr6:163744000-163744200	Enhancers	Right Atrium	heart

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