Variant report

Variant	esv3473869
Chromosome Location	chr6:26997108-26997961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26996900..26999485-chr6:27016466..27018181,2	K562	blood:
2	chr6:26995360..26998433-chr6:26999831..27003270,4	K562	blood:
3	chr6:26986741..26990860-chr6:26997187..27001083,4	MCF-7	breast:
4	chr6:26994794..26997909-chr6:26999372..27002508,3	K562	blood:

Variant related genes	Relation type
ENSG00000224843	chromatin interactions
ENSG00000220581	chromatin interactions
ENSG00000238621	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141039573	chr6:26997108-26997109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563248721	chr6:26997124-26997125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528849142	chr6:26997126-26997127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549021458	chr6:26997127-26997128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560054762	chr6:26997129-26997130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528830977	chr6:26997139-26997140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147817632	chr6:26997153-26997154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370318373	chr6:26997174-26997175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13204698	chr6:26997179-26997180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13204813	chr6:26997184-26997185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201682809	chr6:26997195-26997196	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs9461322	chr6:26997207-26997208	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs553922385	chr6:26997213-26997214	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375865241	chr6:26997227-26997228	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs369778401	chr6:26997229-26997230	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373890471	chr6:26997231-26997232	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201479886	chr6:26997232-26997233	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201140552	chr6:26997233-26997234	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369715044	chr6:26997235-26997236	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374252321	chr6:26997237-26997238	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs9467969	chr6:26997239-26997240	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs74208014	chr6:26997241-26997242	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112762605	chr6:26997251-26997252	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs370707036	chr6:26997253-26997254	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs377496539	chr6:26997255-26997256	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370715726	chr6:26997257-26997258	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372990150	chr6:26997265-26997266	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377000862	chr6:26997269-26997270	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs370323044	chr6:26997283-26997284	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375512861	chr6:26997287-26997288	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575341737	chr6:26997319-26997320	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs571859808	chr6:26997335-26997336	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs9393786	chr6:26997343-26997344	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs373363921	chr6:26997371-26997372	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs145145973	chr6:26997410-26997411	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567674971	chr6:26997431-26997432	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs144925377	chr6:26997475-26997476	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552982053	chr6:26997523-26997524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs4403259	chr6:26997617-26997618	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs373511477	chr6:26997647-26997648	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567103947	chr6:26997656-26997657	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs149045692	chr6:26997735-26997736	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs557657674	chr6:26997814-26997815	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs537698026	chr6:26997833-26997834	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189240709	chr6:26997836-26997837	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs377648160	chr6:26997851-26997852	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs9467970	chr6:26997929-26997930	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34766279	chr6:26997952-26997953	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26991800-27012000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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