Variant report

Variant	esv3336634
Chromosome Location	chr6:149765233-149765413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149763441..149766003-chr6:149768583..149771236,2	K562	blood:
2	chr6:149763319..149765484-chr6:149839894..149842239,2	MCF-7	breast:
3	chr6:149757368..149759713-chr6:149765073..149766703,2	K562	blood:
4	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
5	chr6:149763379..149766103-chr6:149776553..149779366,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178199	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549074936	chr6:149765251-149765252	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs450305	chr6:149765254-149765255	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs202092237	chr6:149765268-149765269	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200089312	chr6:149765278-149765279	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs67814151	chr6:149765280-149765281	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs58980787	chr6:149765282-149765283	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112846144	chr6:149765290-149765291	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111352053	chr6:149765298-149765299	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1619674	chr6:149765331-149765332	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs67994995	chr6:149765332-149765333	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58721573	chr6:149765333-149765334	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112298678	chr6:149765342-149765343	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75560917	chr6:149765345-149765346	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112934152	chr6:149765374-149765375	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111070221	chr6:149765387-149765388	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1619497	chr6:149765393-149765394	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542233755	chr6:149765410-149765411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149753400-149770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:149753600-149768400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:149753600-149769600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:149760600-149766600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:149760800-149765800	Weak transcription	GM12878-XiMat	blood
6	chr6:149761600-149769600	Weak transcription	Primary B cells from cord blood	blood
7	chr6:149762600-149770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:149762800-149771000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:149763200-149765800	Weak transcription	Right Ventricle	heart
10	chr6:149763200-149770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:149763200-149771000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:149763200-149771400	Weak transcription	Pancreas	Pancrea
13	chr6:149763400-149766000	Enhancers	HepG2	liver
14	chr6:149764400-149765400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:149764400-149765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:149764600-149768600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:149764800-149765600	Weak transcription	Right Atrium	heart
18	chr6:149764800-149771400	Weak transcription	Spleen	Spleen
19	chr6:149765000-149765800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:149765000-149766400	Weak transcription	Left Ventricle	heart
21	chr6:149765200-149771400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:149765400-149765600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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