Variant report

Variant	esv3350617
Chromosome Location	chr6:27158209-27160114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27148219..27154668-chr6:27154722..27158254,9	K562	blood:
2	chr6:27145218..27148337-chr6:27151646..27158450,9	MCF-7	breast:
3	chr6:27156417..27159630-chr6:27160529..27165919,7	K562	blood:
4	chr6:27156508..27159438-chr6:27571250..27573740,2	K562	blood:
5	chr6:27154198..27156038-chr6:27159087..27161685,2	MCF-7	breast:
6	chr6:27153641..27158263-chr6:27858563..27861801,5	K562	blood:
7	chr6:27155275..27158320-chr6:27568064..27571527,3	K562	blood:
8	chr6:27133928..27135511-chr6:27156341..27158260,2	K562	blood:
9	chr6:27154579..27158488-chr6:27757538..27761648,4	MCF-7	breast:
10	chr6:27155406..27158362-chr6:27858378..27860998,5	K562	blood:
11	chr6:27155528..27159493-chr6:27776465..27779576,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197153	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000203813	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200336710	chr6:27158238-27158239	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs190065842	chr6:27158247-27158248	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573669824	chr6:27158292-27158293	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs138868952	chr6:27158294-27158295	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115275819	chr6:27158299-27158300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114775870	chr6:27158300-27158301	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs552527755	chr6:27158329-27158330	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573232935	chr6:27158365-27158366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545265058	chr6:27158377-27158378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565160916	chr6:27158442-27158443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144508972	chr6:27158501-27158502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376026681	chr6:27158506-27158507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371832779	chr6:27158513-27158514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368621392	chr6:27158518-27158519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374784567	chr6:27158525-27158526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372326130	chr6:27158533-27158534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369530637	chr6:27158543-27158544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376605535	chr6:27158552-27158553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140169349	chr6:27158554-27158555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536919466	chr6:27158556-27158557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78991315	chr6:27158569-27158570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572954859	chr6:27158593-27158594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73388512	chr6:27158600-27158601	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181617193	chr6:27158602-27158603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561267463	chr6:27158605-27158606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573913949	chr6:27158620-27158621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373186876	chr6:27158670-27158671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566856746	chr6:27158732-27158733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199614592	chr6:27158774-27158775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528417765	chr6:27158781-27158782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377448822	chr6:27158808-27158809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371188975	chr6:27158826-27158827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369796264	chr6:27158829-27158830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369622295	chr6:27158864-27158865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56772681	chr6:27158881-27158882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7774731	chr6:27158916-27158917	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550747344	chr6:27158966-27158967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567275051	chr6:27159032-27159033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183915214	chr6:27159044-27159045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552562498	chr6:27159078-27159079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150511657	chr6:27159104-27159105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538952306	chr6:27159133-27159134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558787260	chr6:27159164-27159165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542064285	chr6:27159195-27159196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575886407	chr6:27159230-27159231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376113868	chr6:27159264-27159265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370990463	chr6:27159362-27159363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374285149	chr6:27159390-27159391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139788983	chr6:27159403-27159404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561511428	chr6:27159412-27159413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27156800-27158400	Enhancers	Fetal Intestine Small	intestine
2	chr6:27156800-27161200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:27156800-27162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:27156800-27173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:27158200-27158400	Enhancers	Fetal Kidney	kidney

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