Variant report

Variant	esv3393849
Chromosome Location	chr6:26996423-26998321
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	chr6:26986741..26990860-chr6:26997187..27001083,4	MCF-7	breast:
3	chr6:26994794..26997909-chr6:26999372..27002508,3	K562	blood:
4	chr6:26995360..26998433-chr6:26999831..27003270,4	K562	blood:

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

Extended variants
information (count: 94 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150600958	chr6:26996456-26996457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9467967	chr6:26996477-26996478	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563082659	chr6:26996489-26996490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376105454	chr6:26996490-26996491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374736940	chr6:26996537-26996538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570584051	chr6:26996540-26996541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549658235	chr6:26996551-26996552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9467968	chr6:26996582-26996583	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144447751	chr6:26996587-26996588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532929850	chr6:26996684-26996685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187515734	chr6:26996716-26996717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555698210	chr6:26996746-26996747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578229831	chr6:26996811-26996812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571637607	chr6:26996840-26996841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567934666	chr6:26996888-26996889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202227439	chr6:26996910-26996911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557075977	chr6:26996924-26996925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574021571	chr6:26996933-26996934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200687688	chr6:26997035-26997036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369622169	chr6:26997044-26997045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79885278	chr6:26997045-26997046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4713067	chr6:26997046-26997047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
23	rs544234689	chr6:26997059-26997060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184499812	chr6:26997062-26997063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146040675	chr6:26997068-26997069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536248288	chr6:26997081-26997082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555212636	chr6:26997100-26997101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572021196	chr6:26997102-26997103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540811624	chr6:26997103-26997104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564334411	chr6:26997104-26997105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577660772	chr6:26997105-26997106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543543144	chr6:26997107-26997108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141039573	chr6:26997108-26997109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563248721	chr6:26997124-26997125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528849142	chr6:26997126-26997127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549021458	chr6:26997127-26997128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560054762	chr6:26997129-26997130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528830977	chr6:26997139-26997140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147817632	chr6:26997153-26997154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370318373	chr6:26997174-26997175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13204698	chr6:26997179-26997180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13204813	chr6:26997184-26997185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201682809	chr6:26997195-26997196	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs9461322	chr6:26997207-26997208	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs553922385	chr6:26997213-26997214	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs375865241	chr6:26997227-26997228	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs369778401	chr6:26997229-26997230	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs373890471	chr6:26997231-26997232	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201479886	chr6:26997232-26997233	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs201140552	chr6:26997233-26997234	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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