Variant report

Variant	esv3346748
Chromosome Location	chr6:26964373-26968671
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	chr6:26962343..26965289-chr6:26986491..26988275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238621	chromatin interactions
ENSG00000224843	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2893890	chr6:26964445-26964446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3999233	chr6:26964536-26964537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150253518	chr6:26964538-26964539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145826251	chr6:26964554-26964555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9467948	chr6:26964570-26964571	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9467949	chr6:26964590-26964591	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560166900	chr6:26964598-26964599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9368483	chr6:26964601-26964602	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs552824730	chr6:26964652-26964653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs41493348	chr6:26964662-26964663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9368484	chr6:26964726-26964727	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2754600	chr6:26964742-26964743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566101939	chr6:26964766-26964767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2754601	chr6:26964777-26964778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199750399	chr6:26964784-26964785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548850263	chr6:26964786-26964787	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200637014	chr6:26964802-26964803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79652681	chr6:26964805-26964806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201142059	chr6:26964809-26964810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71537556	chr6:26964810-26964811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199763247	chr6:26964812-26964813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375557045	chr6:26964813-26964814	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112359997	chr6:26964814-26964815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548341614	chr6:26964823-26964824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568350845	chr6:26964829-26964830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79114404	chr6:26964833-26964834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs9368485	chr6:26964855-26964856	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536389129	chr6:26964869-26964870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553895881	chr6:26965011-26965012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570818078	chr6:26965013-26965014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539411277	chr6:26965057-26965058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374625276	chr6:26965135-26965136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2754603	chr6:26965139-26965140	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544530405	chr6:26965174-26965175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs4493736	chr6:26965241-26965242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150790542	chr6:26965398-26965399	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs111427275	chr6:26965432-26965433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28720872	chr6:26965462-26965463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574710619	chr6:26965466-26965467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540325632	chr6:26965488-26965489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112479107	chr6:26965501-26965502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560329242	chr6:26965521-26965522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532241804	chr6:26965536-26965537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9467950	chr6:26965578-26965579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562520785	chr6:26965592-26965593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9467951	chr6:26965646-26965647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9467952	chr6:26965698-26965699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182205945	chr6:26965747-26965748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527923230	chr6:26965763-26965764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12193875	chr6:26965779-26965780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:103)

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
Breast cancer	21509527	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	chr6:26953600-26966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links