Variant report

Variant	esv2504654
Chromosome Location	chr6:140390438-140391916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140385652..140387203-chr6:140390391..140391912,2	K562	blood:
2	chr6:140390402..140393143-chr6:140395064..140396701,2	MCF-7	breast:
3	chr6:140388648..140390950-chr6:140391151..140393468,2	MCF-7	breast:
4	chr6:139695731..139697417-chr6:140391415..140394003,2	MCF-7	breast:
5	chr6:140390060..140392664-chr6:140397671..140399616,2	MCF-7	breast:
6	chr6:140388648..140390950-chr6:140391151..140393468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532354336	chr6:140390572-140390573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547765579	chr6:140390611-140390612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187287618	chr6:140390686-140390687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35872735	chr6:140390701-140390702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559284508	chr6:140390741-140390742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572811626	chr6:140390769-140390770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541618428	chr6:140390815-140390816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561489921	chr6:140390830-140390831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554768433	chr6:140390832-140390833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5880459	chr6:140390842-140390843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569883722	chr6:140390866-140390867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537562572	chr6:140390990-140390991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138414657	chr6:140391030-140391031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577666059	chr6:140391064-140391065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62431064	chr6:140391082-140391083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553715198	chr6:140391095-140391096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542370253	chr6:140391100-140391101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1324130	chr6:140391106-140391107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151294526	chr6:140391136-140391137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531202863	chr6:140391137-140391138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180751070	chr6:140391154-140391155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71562535	chr6:140391181-140391182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71562536	chr6:140391213-140391214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561082608	chr6:140391222-140391223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186470188	chr6:140391238-140391239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543936306	chr6:140391292-140391293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190060358	chr6:140391323-140391324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183069193	chr6:140391356-140391357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80331273	chr6:140391366-140391367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117249062	chr6:140391413-140391414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187659343	chr6:140391420-140391421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569922555	chr6:140391485-140391486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537296444	chr6:140391530-140391531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190629979	chr6:140391569-140391570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144510075	chr6:140391574-140391575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184034887	chr6:140391578-140391579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553510485	chr6:140391606-140391607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571974303	chr6:140391666-140391667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188914375	chr6:140391720-140391721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532640167	chr6:140391769-140391770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138938638	chr6:140391827-140391828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576399437	chr6:140391904-140391905	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140384200-140391400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:140384400-140391800	Weak transcription	Fetal Stomach	stomach
3	chr6:140384400-140391800	Weak transcription	Stomach Mucosa	stomach
4	chr6:140384400-140392800	Weak transcription	Aorta	Aorta
5	chr6:140384600-140391200	Weak transcription	Fetal Lung	lung
6	chr6:140384600-140392000	Weak transcription	HSMMtube	muscle
7	chr6:140384600-140392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:140384600-140394000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:140385200-140391200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:140385800-140391000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:140385800-140391200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:140385800-140391800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:140386000-140391000	Weak transcription	Ovary	ovary
14	chr6:140386000-140392200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:140390000-140395400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:140390000-140395400	Enhancers	NHDF-Ad	bronchial
17	chr6:140390200-140395400	Enhancers	NHLF	lung
18	chr6:140390400-140391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:140390400-140395000	Enhancers	Osteobl	bone
20	chr6:140390800-140394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:140391000-140392400	Enhancers	Ovary	ovary
22	chr6:140391000-140392600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:140391200-140392000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:140391200-140393200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:140391200-140395000	Enhancers	Fetal Lung	lung
26	chr6:140391400-140391600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:140391400-140392000	Enhancers	Fetal Muscle Leg	muscle
28	chr6:140391400-140392200	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:140391400-140392800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:140391400-140393200	Enhancers	Colon Smooth Muscle	Colon
31	chr6:140391400-140393600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:140391400-140395000	Enhancers	Hela-S3	cervix
33	chr6:140391600-140392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:140391600-140393600	Enhancers	Fetal Heart	heart
35	chr6:140391600-140394000	Enhancers	HUVEC	blood vessel
36	chr6:140391600-140395200	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:140391800-140392000	Enhancers	Stomach Mucosa	stomach
38	chr6:140391800-140392200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:140391800-140392400	Weak transcription	Right Atrium	heart
40	chr6:140391800-140392600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:140391800-140393000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:140391800-140393000	Enhancers	Fetal Stomach	stomach
43	chr6:140391800-140393000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:140391800-140393800	Enhancers	Fetal Kidney	kidney
45	chr6:140391800-140393800	Enhancers	NH-A	brain
46	chr6:140391800-140394000	Enhancers	HSMM	muscle
47	chr6:140391800-140394400	Enhancers	Adipose Nuclei	Adipose
48	chr6:140391800-140395000	Enhancers	Fetal Brain Male	brain

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