Variant report

Variant	esv3336259
Chromosome Location	chr6:27143325-27143927
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27142864..27146588-chr6:27859215..27861126,3	K562	blood:
2	chr6:27143119..27145286-chr6:27470230..27472142,2	K562	blood:
3	chr6:27143738..27145587-chr6:27441019..27442990,2	K562	blood:
4	chr6:27143412..27146140-chr6:27152536..27156532,5	K562	blood:
5	chr6:27143921..27146331-chr6:27500978..27503317,2	K562	blood:
6	chr6:27142668..27145341-chr6:27807841..27810817,2	K562	blood:
7	chr6:27135834..27138150-chr6:27143711..27145656,3	MCF-7	breast:
8	chr6:27130156..27130801-chr6:27143845..27144827,2	K562	blood:
9	chr6:27143840..27145814-chr6:27177507..27180295,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174572	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197153	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571868114	chr6:27143356-27143357	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187426355	chr6:27143383-27143384	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140421251	chr6:27143429-27143430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370671169	chr6:27143510-27143511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567496049	chr6:27143543-27143544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551826692	chr6:27143562-27143563	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567234055	chr6:27143606-27143607	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539606010	chr6:27143611-27143612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537974542	chr6:27143623-27143624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375175295	chr6:27143629-27143630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553014863	chr6:27143667-27143668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs71559015	chr6:27143675-27143676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373720047	chr6:27143686-27143687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538975194	chr6:27143703-27143704	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565369484	chr6:27143749-27143750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375473399	chr6:27143750-27143751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558672565	chr6:27143762-27143763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3999106	chr6:27143767-27143768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111546623	chr6:27143768-27143769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377113820	chr6:27143772-27143773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577916094	chr6:27143775-27143776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146957568	chr6:27143782-27143783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs5875130	chr6:27143783-27143784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs192596430	chr6:27143819-27143820	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557226781	chr6:27143830-27143831	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573849369	chr6:27143839-27143840	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542768032	chr6:27143843-27143844	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs9366683	chr6:27143868-27143869	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577953407	chr6:27143877-27143878	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs13194053	chr6:27143883-27143884	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
31	rs545027839	chr6:27143912-27143913	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27136800-27143800	Weak transcription	HSMMtube	muscle
2	chr6:27137400-27143800	Weak transcription	Hela-S3	cervix
3	chr6:27137400-27144000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:27137600-27144000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:27138200-27144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:27141000-27144400	Weak transcription	Fetal Kidney	kidney
7	chr6:27142400-27143400	Flanking Active TSS	K562	blood
8	chr6:27143000-27144000	Weak transcription	Fetal Thymus	thymus
9	chr6:27143400-27144000	Enhancers	K562	blood
10	chr6:27143800-27144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:27143800-27144000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:27143800-27144000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:27143800-27144000	Enhancers	NHLF	lung
14	chr6:27143800-27144200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:27143800-27144200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:27143800-27144200	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:27143800-27144200	Enhancers	Dnd41	blood
18	chr6:27143800-27144200	Flanking Active TSS	HSMMtube	muscle
19	chr6:27143800-27144400	Flanking Active TSS	Hela-S3	cervix
20	chr6:27143800-27144600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:27143800-27146200	Active TSS	Placenta	Placenta
22	chr6:27143800-27146800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:27143800-27146800	Active TSS	Fetal Lung	lung
24	chr6:27143800-27146800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:27143800-27147000	Active TSS	HSMM	muscle
26	chr6:27143800-27147400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:27143800-27147400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:27143800-27147600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:27143800-27147600	Active TSS	HUES6 Cell Line	embryonic stem cell

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