Variant report

Variant	esv16525
Chromosome Location	chr6:30361117-30364291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30360733..30362483-chr6:30523991..30525891,2	K562	blood:
2	chr6:30344008..30344969-chr6:30364258..30365252,4	MCF-7	breast:
3	chr6:30269685..30271838-chr6:30361381..30363519,2	K562	blood:

Variant related genes	Relation type
ENSG00000204576	chromatin interactions
ENSG00000204590	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547024083	chr6:30361127-30361128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540791276	chr6:30361132-30361133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149179383	chr6:30361162-30361163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3094698	chr6:30361193-30361194	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs529352751	chr6:30361200-30361201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs3094697	chr6:30361232-30361233	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs374734944	chr6:30361257-30361258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563131065	chr6:30361284-30361285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117723841	chr6:30361292-30361293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548581239	chr6:30361334-30361335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9391683	chr6:30361358-30361359	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534514025	chr6:30361373-30361374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3094042	chr6:30361418-30361419	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs3094696	chr6:30361443-30361444	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9500861	chr6:30361449-30361450	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs3094041	chr6:30361480-30361481	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6910784	chr6:30361502-30361503	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188531447	chr6:30361509-30361510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs3094695	chr6:30361544-30361545	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2516685	chr6:30361608-30361609	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs148367566	chr6:30361673-30361674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs3094040	chr6:30361759-30361760	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs375354081	chr6:30361780-30361781	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543113635	chr6:30361788-30361789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9391684	chr6:30361807-30361808	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141587141	chr6:30361831-30361832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3130106	chr6:30361893-30361894	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs559108227	chr6:30361903-30361904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552923284	chr6:30361953-30361954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144591272	chr6:30362063-30362064	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs114381467	chr6:30362066-30362067	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs180905261	chr6:30362071-30362072	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374646656	chr6:30362101-30362102	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527439580	chr6:30362138-30362139	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs138543588	chr6:30362160-30362161	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535595900	chr6:30362180-30362181	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs3130107	chr6:30362196-30362197	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs3094039	chr6:30362255-30362256	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs374141659	chr6:30362262-30362263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557679807	chr6:30362264-30362265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs185760220	chr6:30362270-30362271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543248809	chr6:30362342-30362343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368464462	chr6:30362402-30362403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs3094038	chr6:30362425-30362426	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs3094037	chr6:30362448-30362449	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542362059	chr6:30362504-30362505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559262132	chr6:30362507-30362508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72841352	chr6:30362588-30362589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3130108	chr6:30362614-30362615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs564803687	chr6:30362626-30362627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cancer	16790693	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30359800-30364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:30362000-30362200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr6:30362000-30362200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30363800-30364000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:30364000-30364200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:30364000-30365000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:30364000-30365200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr6:30364200-30364400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr6:30364200-30364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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