Variant report

Variant	esv2441837
Chromosome Location	chr6:134291557-134292865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134289722..134291671-chr6:134296099..134298094,2	K562	blood:
2	chr6:134286093..134287998-chr6:134291720..134294657,2	K562	blood:
3	chr6:134291938..134294223-chr6:134383822..134386476,2	MCF-7	breast:
4	chr6:134272705..134274666-chr6:134292169..134296187,3	MCF-7	breast:
5	chr6:134292321..134294541-chr6:134307112..134309722,2	K562	blood:
6	chr6:134291001..134293726-chr6:134395176..134396759,2	K562	blood:

Variant related genes	Relation type
ENSG00000028839	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191856189	chr6:134291651-134291652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529321337	chr6:134291695-134291696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549457849	chr6:134291728-134291729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566042906	chr6:134291750-134291751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137888585	chr6:134291751-134291752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201582511	chr6:134291753-134291754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371463082	chr6:134291771-134291772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143777166	chr6:134291803-134291804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375641140	chr6:134291934-134291935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553720065	chr6:134291935-134291936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182192770	chr6:134291965-134291966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539321481	chr6:134291979-134291980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556054456	chr6:134292002-134292003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146105684	chr6:134292010-134292011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541430918	chr6:134292054-134292055	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555043957	chr6:134292115-134292116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572084879	chr6:134292177-134292178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541595140	chr6:134292188-134292189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564550582	chr6:134292220-134292221	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77072103	chr6:134292221-134292222	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35938367	chr6:134292225-134292226	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544094773	chr6:134292237-134292238	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9399083	chr6:134292257-134292258	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556640680	chr6:134292261-134292262	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558438996	chr6:134292284-134292285	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35593492	chr6:134292298-134292299	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529256566	chr6:134292414-134292415	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577991998	chr6:134292443-134292444	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545297393	chr6:134292513-134292514	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552460861	chr6:134292514-134292515	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138895647	chr6:134292519-134292520	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528607368	chr6:134292557-134292558	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186926182	chr6:134292572-134292573	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192500395	chr6:134292603-134292604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149568726	chr6:134292624-134292625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144201979	chr6:134292660-134292661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569664650	chr6:134292713-134292714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201862405	chr6:134292718-134292719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535075600	chr6:134292720-134292721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556006186	chr6:134292721-134292722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566105435	chr6:134292737-134292738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561636259	chr6:134292740-134292741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116985456	chr6:134292781-134292782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572083386	chr6:134292783-134292784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560636557	chr6:134292789-134292790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531336198	chr6:134292822-134292823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574130832	chr6:134292840-134292841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557847733	chr6:134292856-134292857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276200-134299000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
3	chr6:134276600-134293000	Weak transcription	Fetal Lung	lung
4	chr6:134276600-134302800	Weak transcription	Fetal Kidney	kidney
5	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
6	chr6:134278000-134303600	Weak transcription	Dnd41	blood
7	chr6:134279400-134298800	Weak transcription	Psoas Muscle	Psoas
8	chr6:134279800-134294200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:134280600-134293000	Weak transcription	Liver	Liver
11	chr6:134280600-134312200	Weak transcription	Lung	lung
12	chr6:134281000-134294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:134281400-134298800	Weak transcription	Ovary	ovary
14	chr6:134282000-134298800	Weak transcription	Gastric	stomach
15	chr6:134282600-134302000	Weak transcription	Placenta	Placenta
16	chr6:134283000-134294200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:134283400-134293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:134286800-134292400	Weak transcription	Fetal Brain Male	brain
21	chr6:134286800-134293800	Weak transcription	Fetal Brain Female	brain
22	chr6:134286800-134299000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:134287200-134291800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:134287800-134293600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:134288200-134294400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:134288200-134298800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:134288400-134294000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:134288600-134293600	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:134288800-134292000	Weak transcription	Primary B cells from cord blood	blood
33	chr6:134288800-134292200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:134288800-134293600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:134288800-134294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:134288800-134299000	Weak transcription	Brain Angular Gyrus	brain
37	chr6:134289000-134293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:134289200-134293000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:134289200-134293000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:134289200-134293000	Weak transcription	HSMM	muscle
41	chr6:134289200-134293400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:134289200-134293600	Weak transcription	A549	lung
43	chr6:134289200-134294400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:134289200-134298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:134289400-134293000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:134289400-134293000	Weak transcription	Osteobl	bone
47	chr6:134289400-134298800	Weak transcription	Hela-S3	cervix
48	chr6:134289400-134298800	Weak transcription	NHEK	skin
49	chr6:134289400-134299400	Weak transcription	HUVEC	blood vessel
50	chr6:134289600-134293200	Weak transcription	Muscle Satellite Cultured Cells	--

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