Variant report

Variant	esv3474295
Chromosome Location	chr6:143606932-143611286
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	chr6:143603471..143605267-chr6:143607615..143610028,2	MCF-7	breast:
2	chr6:143597460..143598966-chr6:143607204..143609984,2	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs573991157	chr6:143607008-143607009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370180041	chr6:143607042-143607043	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145496136	chr6:143607142-143607143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149198157	chr6:143607149-143607150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202199296	chr6:143607162-143607163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34573032	chr6:143607163-143607164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397706202	chr6:143607166-143607167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189380456	chr6:143607195-143607196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17591603	chr6:143607227-143607228	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181437309	chr6:143607255-143607256	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549078123	chr6:143607287-143607288	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560695054	chr6:143607292-143607293	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184260904	chr6:143607343-143607344	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs117426985	chr6:143607364-143607365	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571555056	chr6:143607375-143607376	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538980373	chr6:143607403-143607404	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547565754	chr6:143607405-143607406	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114137356	chr6:143607497-143607498	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533999722	chr6:143607524-143607525	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555810821	chr6:143607572-143607573	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34947637	chr6:143607574-143607575	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189070411	chr6:143607577-143607578	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373731967	chr6:143607598-143607599	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543307148	chr6:143607621-143607622	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200610091	chr6:143607642-143607643	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557131548	chr6:143607673-143607674	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114923025	chr6:143607684-143607685	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377239646	chr6:143607688-143607689	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35285389	chr6:143607712-143607713	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576930037	chr6:143607717-143607718	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545306155	chr6:143607731-143607732	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546343740	chr6:143607753-143607754	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143756105	chr6:143607757-143607758	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74532391	chr6:143607758-143607759	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181247560	chr6:143607822-143607823	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567485730	chr6:143607870-143607871	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561022728	chr6:143607905-143607906	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144553394	chr6:143607938-143607939	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs57732613	chr6:143607990-143607991	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549746444	chr6:143608018-143608019	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564875115	chr6:143608077-143608078	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186754070	chr6:143608079-143608080	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs62430868	chr6:143608095-143608096	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547727400	chr6:143608099-143608100	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78496895	chr6:143608103-143608104	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536433636	chr6:143608104-143608105	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548128657	chr6:143608105-143608106	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567747983	chr6:143608112-143608113	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190603035	chr6:143608118-143608119	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146843585	chr6:143608143-143608144	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143570800-143609200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:143583800-143615400	Weak transcription	K562	blood
3	chr6:143589000-143607400	Weak transcription	Aorta	Aorta
4	chr6:143593400-143607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:143598600-143620200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:143600600-143609200	Weak transcription	Brain Anterior Caudate	brain
7	chr6:143603000-143611000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:143603200-143607000	Weak transcription	Fetal Heart	heart
9	chr6:143603200-143609600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:143603200-143616800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:143603200-143622200	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:143604600-143607800	Weak transcription	Lung	lung
13	chr6:143604800-143608000	Weak transcription	Esophagus	oesophagus
14	chr6:143604800-143608200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:143604800-143609200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:143605000-143608400	Enhancers	Osteobl	bone
17	chr6:143605200-143608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:143605200-143608800	Enhancers	Fetal Stomach	stomach
19	chr6:143605200-143610400	Strong transcription	Liver	Liver
20	chr6:143605400-143607600	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:143605400-143614600	Weak transcription	NHDF-Ad	bronchial
22	chr6:143605600-143608800	Enhancers	HMEC	breast
23	chr6:143605600-143622000	Weak transcription	HepG2	liver
24	chr6:143605800-143607000	Weak transcription	NH-A	brain
25	chr6:143605800-143607400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:143605800-143609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:143606200-143609400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:143606400-143607000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:143606400-143607400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:143606400-143607400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:143606400-143607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:143606400-143607400	Weak transcription	Ovary	ovary
33	chr6:143606400-143608400	Enhancers	Right Atrium	heart
34	chr6:143606600-143607800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:143606600-143608000	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:143606600-143609200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:143606600-143609200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:143606800-143607200	Enhancers	NHEK	skin
39	chr6:143606800-143609000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:143606800-143609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:143606800-143611400	Weak transcription	Fetal Intestine Small	intestine
42	chr6:143607000-143608000	Enhancers	Fetal Heart	heart
43	chr6:143607000-143608400	Enhancers	NH-A	brain
44	chr6:143607000-143608800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:143607000-143608800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:143607000-143609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:143607200-143607400	Flanking Active TSS	NHEK	skin
48	chr6:143607200-143607800	Enhancers	HUVEC	blood vessel
49	chr6:143607200-143609400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:143607400-143607600	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links