Variant report

Variant	esv3377971
Chromosome Location	chr6:13502730-13503038
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	chr6:13485409..13487937-chr6:13501624..13503350,2	K562	blood:
2	chr6:13495546..13497355-chr6:13501574..13503680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187461	chromatin interactions
ENSG00000145990	chromatin interactions
ENSG00000237786	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2560802	chr6:13502738-13502739	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546421996	chr6:13502748-13502749	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs566551833	chr6:13502749-13502750	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553351909	chr6:13502751-13502752	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555905170	chr6:13502791-13502792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs62385811	chr6:13502868-13502869	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56670804	chr6:13502914-13502915	Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2841541	chr6:13503011-13503012	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200419755	chr6:13503033-13503034	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200894223	chr6:13503034-13503035	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs202012653	chr6:13503035-13503036	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13496800-13505400	Weak transcription	Left Ventricle	heart
2	chr6:13499800-13504600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13500200-13512600	Weak transcription	Small Intestine	intestine
4	chr6:13502800-13503200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:13503000-13503400	Enhancers	Right Atrium	heart

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