Variant report

Variant	esv1847978
Chromosome Location	chr6:27353852-27355460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27354651..27357206-chr6:27439212..27442131,3	K562	blood:
2	chr6:27344880..27347098-chr6:27353310..27355092,2	K562	blood:
3	chr6:27350962..27353140-chr6:27353482..27356207,2	MCF-7	breast:
4	chr6:27350809..27354619-chr6:27354946..27358020,4	K562	blood:
5	chr6:27291445..27294642-chr6:27355178..27358043,3	MCF-7	breast:
6	chr6:27350459..27352527-chr6:27353409..27355120,2	K562	blood:
7	chr6:27347361..27349811-chr6:27351442..27354112,2	K562	blood:

Variant related genes	Relation type
ENSG00000124613	chromatin interactions
ENSG00000096654	chromatin interactions
ENSG00000220758	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2143062	chr6:27353852-27353853	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540711008	chr6:27353893-27353894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563956373	chr6:27353917-27353918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146422498	chr6:27353943-27353944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543018938	chr6:27353952-27353953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60762407	chr6:27353985-27353986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376422107	chr6:27354005-27354006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142804095	chr6:27354017-27354018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200413390	chr6:27354018-27354019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145069229	chr6:27354019-27354020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3082233	chr6:27354020-27354021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77707532	chr6:27354021-27354022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140732439	chr6:27354030-27354031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549637476	chr6:27354044-27354045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200666741	chr6:27354104-27354105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145883354	chr6:27354123-27354124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369553744	chr6:27354155-27354156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528623290	chr6:27354161-27354162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371500922	chr6:27354182-27354183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142581328	chr6:27354192-27354193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1534936	chr6:27354195-27354196	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537461759	chr6:27354205-27354206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75449037	chr6:27354212-27354213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569981493	chr6:27354234-27354235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551770100	chr6:27354244-27354245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1534937	chr6:27354335-27354336	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548784561	chr6:27354359-27354360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555178045	chr6:27354362-27354363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567151423	chr6:27354393-27354394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571890014	chr6:27354513-27354514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189266724	chr6:27354591-27354592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537732848	chr6:27354703-27354704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61408824	chr6:27354752-27354753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201325913	chr6:27354758-27354759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs398065687	chr6:27354760-27354761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6934748	chr6:27354781-27354782	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs577628074	chr6:27354800-27354801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543449480	chr6:27354812-27354813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563125241	chr6:27354821-27354822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12193674	chr6:27354845-27354846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6912091	chr6:27354852-27354853	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs6934933	chr6:27354862-27354863	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs6934985	chr6:27354943-27354944	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs6935116	chr6:27354949-27354950	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs6935118	chr6:27354958-27354959	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs180888186	chr6:27354975-27354976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568581712	chr6:27354983-27354984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75609535	chr6:27354996-27354997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9468111	chr6:27355083-27355084	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs149615852	chr6:27355115-27355116	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27343200-27356200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:27346800-27356200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:27355000-27357400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:27355400-27355600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:27355400-27355800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:27355400-27355800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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