Variant report

Variant	esv3475145
Chromosome Location	chr6:88320117-88320679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88319727..88322200-chr6:88410593..88412100,2	K562	blood:
2	chr6:88313946..88315719-chr6:88317737..88320586,2	K562	blood:
3	chr6:88303345..88305306-chr6:88319508..88322473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135334	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182867766	chr6:88320168-88320169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146337029	chr6:88320183-88320184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187905314	chr6:88320219-88320220	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368187041	chr6:88320253-88320254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201569700	chr6:88320258-88320259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199887408	chr6:88320259-88320260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201041564	chr6:88320263-88320264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201458244	chr6:88320267-88320268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6903344	chr6:88320274-88320275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551625527	chr6:88320275-88320276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566845050	chr6:88320276-88320277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527713817	chr6:88320287-88320288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549625902	chr6:88320332-88320333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567975535	chr6:88320402-88320403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538401813	chr6:88320447-88320448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200730632	chr6:88320473-88320474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192419885	chr6:88320475-88320476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569136380	chr6:88320522-88320523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28743183	chr6:88320523-88320524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184608616	chr6:88320546-88320547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150681606	chr6:88320560-88320561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571976763	chr6:88320561-88320562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542272167	chr6:88320562-88320563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534607704	chr6:88320566-88320567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4707382	chr6:88320641-88320642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs541659380	chr6:88320652-88320653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs67349945	chr6:88320653-88320654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88300400-88320800	Weak transcription	Spleen	Spleen
2	chr6:88300400-88323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:88300600-88321800	Weak transcription	Lung	lung
4	chr6:88300600-88323400	Weak transcription	Gastric	stomach
5	chr6:88300600-88391200	Weak transcription	Colonic Mucosa	Colon
6	chr6:88300800-88320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:88300800-88323600	Weak transcription	Aorta	Aorta
8	chr6:88301000-88321000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:88301000-88321000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:88301000-88323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:88301000-88330200	Weak transcription	Right Ventricle	heart
12	chr6:88301000-88347200	Weak transcription	Small Intestine	intestine
13	chr6:88301200-88320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:88301200-88320800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:88301200-88323400	Weak transcription	Thymus	Thymus
16	chr6:88301200-88385000	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:88301400-88320800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:88301400-88321000	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:88301400-88322400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:88301400-88338400	Weak transcription	NHLF	lung
21	chr6:88301400-88354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:88301400-88354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:88301600-88320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:88302000-88347400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:88302000-88354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:88302000-88354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:88305000-88398800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:88305200-88329000	Weak transcription	HSMMtube	muscle
29	chr6:88305400-88320800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:88305400-88320800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:88305600-88320800	Weak transcription	Fetal Kidney	kidney
32	chr6:88305600-88320800	Weak transcription	Fetal Lung	lung
33	chr6:88305600-88322400	Weak transcription	Brain Anterior Caudate	brain
34	chr6:88305600-88322400	Weak transcription	Psoas Muscle	Psoas
35	chr6:88305800-88320800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:88305800-88320800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:88305800-88325200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:88306000-88320800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:88306000-88321600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:88306000-88322400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:88307200-88321000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:88307400-88322400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:88307600-88320400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:88308600-88321800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:88308800-88369800	Weak transcription	Fetal Brain Male	brain
46	chr6:88311400-88334600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:88311600-88320800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:88312200-88371200	Weak transcription	NHEK	skin
49	chr6:88312400-88380600	Weak transcription	Brain Substantia Nigra	brain
50	chr6:88313800-88338200	Weak transcription	NHDF-Ad	bronchial

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