Variant report

Variant	esv3506987
Chromosome Location	chr6:134268880-134269833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:134268405-134268895	SK-N-SH_RA	brain:	n/a	n/a
2	GATA1	chr6:134268412-134269158	PBDE	blood:	n/a	n/a
3	GATA2	chr6:134268226-134268904	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr6:134268469-134268978	SH-SY5Y	brain:	n/a	n/a
5	TAL1	chr6:134268655-134268895	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134260984..134262645-chr6:134269778..134271680,2	K562	blood:
2	chr6:134259055..134262632-chr6:134266342..134269518,3	K562	blood:

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542950645	chr6:134268963-134268964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375800812	chr6:134268981-134268982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369942172	chr6:134268983-134268984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541820301	chr6:134269058-134269059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561942571	chr6:134269079-134269080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77909489	chr6:134269184-134269185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541183390	chr6:134269198-134269199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560269520	chr6:134269313-134269314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187002360	chr6:134269338-134269339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552440355	chr6:134269346-134269347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562764983	chr6:134269391-134269392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6938805	chr6:134269392-134269393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78487977	chr6:134269466-134269467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150995831	chr6:134269569-134269570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80292618	chr6:134269605-134269606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191835577	chr6:134269622-134269623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373585943	chr6:134269724-134269725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142749236	chr6:134269798-134269799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370051933	chr6:134269799-134269800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570246037	chr6:134269825-134269826	Weak transcription Enhancers	n/a	n/a	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134266600-134272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:134266800-134272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:134267000-134272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:134267800-134271600	Enhancers	Liver	Liver
5	chr6:134268000-134269000	Enhancers	K562	blood
6	chr6:134268000-134270200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:134268000-134270400	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:134268000-134270400	Enhancers	Pancreas	Pancrea
9	chr6:134268200-134269200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:134268200-134269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:134268200-134270000	Weak transcription	Gastric	stomach
12	chr6:134268200-134270600	Enhancers	Stomach Mucosa	stomach
13	chr6:134268400-134272200	Weak transcription	Aorta	Aorta
14	chr6:134268600-134272400	Weak transcription	Fetal Brain Female	brain
15	chr6:134269000-134272400	Weak transcription	K562	blood
16	chr6:134269200-134270000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr6:134269600-134270200	Enhancers	Sigmoid Colon	Sigmoid Colon

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