Variant report

Variant	esv3383956
Chromosome Location	chr6:143182909-143185432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143181174..143183463-chr6:143265062..143267510,2	MCF-7	breast:
2	chr6:143181658..143183729-chr6:143211495..143213124,2	MCF-7	breast:
3	chr6:143142977..143144886-chr6:143184382..143186029,2	MCF-7	breast:
4	chr6:143175982..143177765-chr6:143180458..143183206,2	MCF-7	breast:
5	chr6:143169186..143172085-chr6:143184516..143186851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010818	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575272833	chr6:143182989-143182990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181052538	chr6:143183005-143183006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140310400	chr6:143183126-143183127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528264650	chr6:143183150-143183151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540582673	chr6:143183192-143183193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547834157	chr6:143183225-143183226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561920484	chr6:143183242-143183243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2151903	chr6:143183260-143183261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185475023	chr6:143183265-143183266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548570712	chr6:143183338-143183339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190915480	chr6:143183352-143183353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182622568	chr6:143183374-143183375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186232117	chr6:143183454-143183455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4349826	chr6:143183516-143183517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534902922	chr6:143183528-143183529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553254202	chr6:143183530-143183531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568372911	chr6:143183536-143183537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535096474	chr6:143183546-143183547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28581454	chr6:143183558-143183559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556568692	chr6:143183565-143183566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575117554	chr6:143183567-143183568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111522347	chr6:143183573-143183574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191903280	chr6:143183584-143183585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5022325	chr6:143183595-143183596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2184364	chr6:143183596-143183597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61728792	chr6:143183620-143183621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187495764	chr6:143183621-143183622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562248896	chr6:143183632-143183633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs198659	chr6:143183633-143183634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570439855	chr6:143183643-143183644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs198660	chr6:143183657-143183658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56290857	chr6:143183669-143183670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12205480	chr6:143183670-143183671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573956429	chr6:143183673-143183674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544495255	chr6:143183678-143183679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs198661	chr6:143183694-143183695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111218900	chr6:143183721-143183722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9390024	chr6:143183731-143183732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141701015	chr6:143183748-143183749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552685351	chr6:143183761-143183762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545612574	chr6:143183843-143183844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564377075	chr6:143183857-143183858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5022324	chr6:143183868-143183869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12205564	chr6:143183926-143183927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12212681	chr6:143183930-143183931	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs535780755	chr6:143184010-143184011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201585569	chr6:143184044-143184045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67048224	chr6:143184045-143184046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386408815	chr6:143184048-143184049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61335307	chr6:143184052-143184053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
2	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:143173600-143188200	Weak transcription	NHLF	lung
4	chr6:143175400-143185200	Weak transcription	Right Atrium	heart
5	chr6:143175600-143192000	Weak transcription	NHEK	skin
6	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:143176200-143185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:143176600-143185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:143176600-143186800	Weak transcription	Esophagus	oesophagus
11	chr6:143176600-143188200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
13	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:143177800-143185000	Weak transcription	Fetal Kidney	kidney
15	chr6:143178000-143184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:143178800-143184800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:143179000-143184800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:143179200-143183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:143179400-143183000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:143179400-143184800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:143179400-143184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:143179400-143184800	Weak transcription	Psoas Muscle	Psoas
24	chr6:143179400-143186000	Weak transcription	Brain Germinal Matrix	brain
25	chr6:143179400-143188400	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:143179600-143183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:143179600-143183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:143179600-143183400	Enhancers	Primary T cells from cord blood	blood
29	chr6:143179600-143183400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:143179600-143183400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr6:143179600-143183400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:143179600-143183400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:143179600-143185200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:143179600-143185200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:143179600-143185200	Weak transcription	Left Ventricle	heart
36	chr6:143179600-143185200	Weak transcription	Pancreas	Pancrea
37	chr6:143179600-143187000	Weak transcription	Fetal Stomach	stomach
38	chr6:143179600-143187800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:143179600-143188000	Weak transcription	HSMMtube	muscle
40	chr6:143179600-143188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:143179600-143188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:143179600-143189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:143179600-143191200	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:143179800-143188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:143180600-143188600	Weak transcription	Fetal Thymus	thymus
48	chr6:143180600-143193000	Weak transcription	Thymus	Thymus
49	chr6:143180800-143186600	Weak transcription	Primary B cells from cord blood	blood
50	chr6:143181200-143183200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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