Variant report

Variant	esv3392894
Chromosome Location	chr6:33479074-33482772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33393869..33396201-chr6:33479107..33481448,2	MCF-7	breast:
2	chr6:33422288..33424743-chr6:33478570..33480571,2	MCF-7	breast:
3	chr6:33480361..33482958-chr6:33629089..33631311,2	K562	blood:
4	chr6:33479121..33484420-chr6:33487848..33490096,5	K562	blood:

Variant related genes	Relation type
ENSG00000213588	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542566568	chr6:33479101-33479102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563993186	chr6:33479164-33479165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531197672	chr6:33479183-33479184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552815514	chr6:33479187-33479188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564624273	chr6:33479194-33479195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376309272	chr6:33479206-33479207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557520355	chr6:33479238-33479239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574266498	chr6:33479244-33479245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55700437	chr6:33479247-33479248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535461039	chr6:33479274-33479275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550534670	chr6:33479287-33479288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543206478	chr6:33479344-33479345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79400288	chr6:33479372-33479373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79614588	chr6:33479382-33479383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs55891613	chr6:33479396-33479397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7762843	chr6:33479409-33479410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76582201	chr6:33479518-33479519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145585225	chr6:33479568-33479569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185860569	chr6:33479580-33479581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576952117	chr6:33479589-33479590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377405768	chr6:33479622-33479623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373456162	chr6:33479660-33479661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554179128	chr6:33479688-33479689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75522789	chr6:33479710-33479711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74881243	chr6:33479712-33479713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376084592	chr6:33479726-33479727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534749694	chr6:33479747-33479748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552771917	chr6:33479751-33479752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567618238	chr6:33479762-33479763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6907702	chr6:33479774-33479775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78219992	chr6:33479809-33479810	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77292787	chr6:33479810-33479811	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72214730	chr6:33479811-33479812	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs70996781	chr6:33479831-33479832	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373778340	chr6:33479866-33479867	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62405904	chr6:33479892-33479893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557236340	chr6:33479928-33479929	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76708333	chr6:33479930-33479931	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201608410	chr6:33479946-33479947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115934077	chr6:33479966-33479967	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117666388	chr6:33480081-33480082	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368002287	chr6:33480082-33480083	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564742903	chr6:33480087-33480088	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528665606	chr6:33480152-33480153	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547101145	chr6:33480156-33480157	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142574052	chr6:33480218-33480219	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372261971	chr6:33480247-33480248	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144262650	chr6:33480268-33480269	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375516646	chr6:33480289-33480290	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568905050	chr6:33480296-33480297	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	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
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33474400-33481200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:33476600-33479800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:33477200-33480400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:33477400-33479400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:33477400-33479800	Weak transcription	Placenta	Placenta
6	chr6:33477400-33480000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:33477400-33480200	Weak transcription	Right Atrium	heart
8	chr6:33477600-33479400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:33477600-33479400	Weak transcription	K562	blood
10	chr6:33477600-33479800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:33477600-33479800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:33477600-33479800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:33477600-33480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:33477600-33480000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:33477600-33480000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33477600-33480000	Weak transcription	Spleen	Spleen
17	chr6:33477600-33480200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:33477600-33480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:33477800-33479200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:33477800-33480600	Weak transcription	GM12878-XiMat	blood
21	chr6:33479200-33479800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:33479400-33479800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:33479400-33480200	Enhancers	K562	blood
24	chr6:33479400-33480600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:33479800-33480400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:33479800-33480400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:33479800-33480600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:33479800-33480600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:33479800-33480600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:33479800-33480600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr6:33479800-33480600	Enhancers	Placenta	Placenta
32	chr6:33479800-33481000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:33479800-33481200	Enhancers	Fetal Thymus	thymus
34	chr6:33480000-33480200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:33480000-33480200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:33480000-33480200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr6:33480000-33480200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:33480000-33480400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:33480000-33480400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr6:33480000-33480400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:33480000-33480400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr6:33480000-33480400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:33480000-33480400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:33480000-33480600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:33480000-33480600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:33480000-33480600	Enhancers	Primary B cells from cord blood	blood
47	chr6:33480000-33480600	Enhancers	Primary T cells from cord blood	blood
48	chr6:33480000-33480600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:33480000-33480600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:33480000-33480600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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