Variant report

Variant	esv3395457
Chromosome Location	chr6:140364559-140368757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140368572..140371123-chr6:140374130..140376086,2	K562	blood:
2	chr6:140362168..140365003-chr6:140377211..140380163,3	MCF-7	breast:
3	chr6:140363202..140365064-chr6:140365355..140367836,2	MCF-7	breast:
4	chr6:139694166..139695785-chr6:140367777..140369487,2	MCF-7	breast:
5	chr6:140363202..140365064-chr6:140365355..140367836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76221811	chr6:140364667-140364668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573520714	chr6:140364727-140364728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535148126	chr6:140364740-140364741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557493238	chr6:140364803-140364804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577375172	chr6:140364822-140364823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545042056	chr6:140364866-140364867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545276527	chr6:140364873-140364874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368130375	chr6:140364874-140364875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564824351	chr6:140364896-140364897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571848771	chr6:140364908-140364909	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542899035	chr6:140364909-140364910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371164397	chr6:140364924-140364925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17069741	chr6:140364969-140364970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577958642	chr6:140364990-140364991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545118884	chr6:140365051-140365052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560542302	chr6:140365056-140365057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1572672	chr6:140365070-140365071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs527937955	chr6:140365076-140365077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182098010	chr6:140365077-140365078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561439436	chr6:140365093-140365094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77909771	chr6:140365094-140365095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550680960	chr6:140365101-140365102	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568900387	chr6:140365169-140365170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187989251	chr6:140365191-140365192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79506493	chr6:140365217-140365218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566473293	chr6:140365218-140365219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10499216	chr6:140365271-140365272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34318375	chr6:140365303-140365304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371079689	chr6:140365324-140365325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377765941	chr6:140365406-140365407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192830658	chr6:140365433-140365434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182959976	chr6:140365440-140365441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556236039	chr6:140365462-140365463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577999330	chr6:140365470-140365471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9385892	chr6:140365476-140365477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76937146	chr6:140365481-140365482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368322948	chr6:140365493-140365494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560252616	chr6:140365556-140365557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549673665	chr6:140365568-140365569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80046127	chr6:140365583-140365584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544572211	chr6:140365608-140365609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561603546	chr6:140365610-140365611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563453545	chr6:140365642-140365643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143020600	chr6:140365661-140365662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565482051	chr6:140365677-140365678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532850139	chr6:140365684-140365685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561567881	chr6:140365743-140365744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188841961	chr6:140365799-140365800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546147922	chr6:140365808-140365809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533575809	chr6:140365829-140365830	Weak transcription Enhancers	n/a	n/a	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140351400-140366600	Weak transcription	Aorta	Aorta
2	chr6:140353600-140365600	Weak transcription	Left Ventricle	heart
3	chr6:140358200-140366600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:140360800-140366400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:140361200-140365400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:140361200-140365800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:140361200-140366800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:140361200-140366800	Enhancers	HMEC	breast
9	chr6:140361200-140367000	Enhancers	NHEK	skin
10	chr6:140361600-140365600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:140362200-140366400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:140362400-140365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:140362400-140366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:140362800-140365600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:140363000-140365000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:140363000-140366400	Enhancers	HSMM	muscle
17	chr6:140363200-140365600	Enhancers	NHLF	lung
18	chr6:140363200-140366800	Enhancers	Hela-S3	cervix
19	chr6:140363400-140370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:140363400-140370800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:140363600-140365000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:140363600-140365600	Enhancers	A549	lung
23	chr6:140364000-140365600	Enhancers	HSMMtube	muscle
24	chr6:140364000-140367200	Enhancers	NHDF-Ad	bronchial
25	chr6:140364200-140364800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:140364200-140365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:140364200-140365600	Enhancers	NH-A	brain
28	chr6:140364200-140365800	Enhancers	Osteobl	bone
29	chr6:140364200-140366600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:140364400-140364800	Enhancers	Small Intestine	intestine
31	chr6:140364400-140365200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:140364400-140365400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:140364400-140365600	Enhancers	Fetal Intestine Small	intestine
34	chr6:140364400-140365600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:140364400-140365800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:140364400-140365800	Enhancers	Fetal Intestine Large	intestine
37	chr6:140364400-140366800	Enhancers	Fetal Heart	heart
38	chr6:140364400-140367000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:140364400-140367600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:140364800-140365200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:140364800-140366600	Weak transcription	Small Intestine	intestine
42	chr6:140365000-140365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:140365000-140366400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:140365000-140366800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:140365200-140365800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:140365600-140365800	Enhancers	Left Ventricle	heart
47	chr6:140365600-140366000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:140365600-140366400	Weak transcription	NH-A	brain
49	chr6:140365600-140366400	Weak transcription	NHLF	lung
50	chr6:140365600-140366800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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