Variant report

Variant	esv33446
Chromosome Location	chr6:23891311-23916811
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	chr10:102117039..102117661-chr6:23910880..23911790,2	Hela-S3	cervix:
2	chr6:23879136..23881788-chr6:23889140..23891647,2	K562	blood:

Extended variants
information (count: 718 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142575847	chr6:23891339-23891340	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372475490	chr6:23891356-23891357	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576477031	chr6:23891359-23891360	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55877597	chr6:23891362-23891363	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55820117	chr6:23891363-23891364	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577187722	chr6:23891364-23891365	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577261213	chr6:23891365-23891366	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558863292	chr6:23891366-23891367	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10498714	chr6:23891378-23891379	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376301828	chr6:23891414-23891415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369101041	chr6:23891419-23891420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556742536	chr6:23891427-23891428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374187508	chr6:23891435-23891436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186280500	chr6:23891436-23891437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190570446	chr6:23891437-23891438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541095523	chr6:23891446-23891447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35720985	chr6:23891504-23891505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533332004	chr6:23891560-23891561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150922856	chr6:23891565-23891566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78446797	chr6:23891579-23891580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377130890	chr6:23891582-23891583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115505169	chr6:23891584-23891585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181446995	chr6:23891613-23891614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567276706	chr6:23891614-23891615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116836885	chr6:23891679-23891680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552755936	chr6:23891684-23891685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570916863	chr6:23891687-23891688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141487308	chr6:23891717-23891718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529945780	chr6:23891749-23891750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538203829	chr6:23891777-23891778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558079123	chr6:23891779-23891780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576321124	chr6:23891789-23891790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543690409	chr6:23891811-23891812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545133177	chr6:23891822-23891823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555907388	chr6:23891830-23891831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557950451	chr6:23891850-23891851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574124434	chr6:23891866-23891867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1355460	chr6:23891874-23891875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs559845687	chr6:23891877-23891878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533411625	chr6:23891886-23891887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545410630	chr6:23891911-23891912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149674257	chr6:23891960-23891961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34025762	chr6:23891976-23891977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146634947	chr6:23892015-23892016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540008746	chr6:23892017-23892018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115590451	chr6:23892046-23892047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141469538	chr6:23892057-23892058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145087317	chr6:23892062-23892063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546680258	chr6:23892080-23892081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561559157	chr6:23892113-23892114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23890600-23891400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:23890800-23893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:23893400-23893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:23904600-23905200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:23904600-23906200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:23904800-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:23904800-23906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:23905000-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:23905200-23905800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:23905600-23906000	Enhancers	Colon Smooth Muscle	Colon
13	chr6:23905800-23906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:23906200-23910800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:23910800-23911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:23911600-23916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:23915600-23916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:23915800-23916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:23915800-23917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:23916000-23916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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