Variant report

Variant	esv3436252
Chromosome Location	chr8:59581925-59615994
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59465091..59467198-chr8:59613336..59616272,2	K562	blood:
2	chr8:59558916..59561724-chr8:59595324..59598145,3	K562	blood:
3	chr8:59579838..59581367-chr8:59590579..59592977,2	MCF-7	breast:
4	chr8:59582347..59584631-chr8:59596876..59598499,2	K562	blood:
5	chr8:59592112..59593967-chr8:59594387..59597947,4	K562	blood:
6	chr8:59569251..59571167-chr8:59604605..59606844,2	K562	blood:
7	chr8:59554274..59556738-chr8:59613834..59616221,2	K562	blood:
8	chr8:59492385..59492924-chr8:59613980..59614521,2	K562	blood:
9	chr8:59577934..59580671-chr8:59583102..59586794,3	K562	blood:
10	chr8:59425486..59426187-chr8:59614319..59614923,2	K562	blood:
11	chr8:59571819..59573340-chr8:59583336..59585216,2	MCF-7	breast:
12	chr8:59558916..59561359-chr8:59595324..59597398,2	K562	blood:
13	chr8:59570778..59574061-chr8:59580014..59583262,3	MCF-7	breast:
14	chr8:59559156..59561715-chr8:59592316..59593867,2	K562	blood:
15	chr8:59582347..59584631-chr8:59596876..59598499,2	K562	blood:
16	chr8:59371866..59372422-chr8:59614010..59614968,2	MCF-7	breast:
17	chr8:59579805..59582543-chr8:59586026..59588355,2	MCF-7	breast:
18	chr8:59569960..59574012-chr8:59580352..59588215,8	K562	blood:
19	chr8:59579805..59582543-chr8:59586026..59588355,2	MCF-7	breast:
20	chr8:59520861..59521820-chr8:59613981..59614896,3	K562	blood:
21	chr8:59585816..59588491-chr8:59590912..59594139,4	K562	blood:
22	chr8:59554141..59556473-chr8:59580448..59583882,4	K562	blood:
23	chr8:59571486..59573373-chr8:59592723..59595316,2	K562	blood:
24	chr8:59560215..59562162-chr8:59592367..59594127,2	K562	blood:
25	chr8:59571856..59573746-chr8:59614192..59616705,2	K562	blood:
26	chr8:59585816..59588491-chr8:59590912..59594139,4	K562	blood:
27	chr8:59615246..59617942-chr8:59627091..59629665,2	K562	blood:
28	chr8:59471998..59473866-chr8:59612178..59614856,2	K562	blood:
29	chr8:59465464..59467829-chr8:59581470..59584831,4	K562	blood:
30	chr8:59570231..59572526-chr8:59612952..59614876,2	MCF-7	breast:
31	chr8:59371854..59372897-chr8:59614036..59614890,5	K562	blood:
32	chr8:59581923..59584769-chr8:59585026..59588829,4	K562	blood:
33	chr8:59592112..59593967-chr8:59594387..59597947,4	K562	blood:
34	chr8:59581923..59584769-chr8:59585026..59588829,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137575	chromatin interactions
ENSG00000035681	chromatin interactions

Extended variants
information (count: 1101 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376215481	chr8:59581929-59581930	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537032660	chr8:59581933-59581934	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs118097494	chr8:59581936-59581937	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557001721	chr8:59581940-59581941	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576772330	chr8:59581949-59581950	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542527150	chr8:59581959-59581960	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138724591	chr8:59581974-59581975	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572579477	chr8:59582004-59582005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566050062	chr8:59582024-59582025	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541299076	chr8:59582039-59582040	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564231775	chr8:59582047-59582048	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184751722	chr8:59582048-59582049	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74340527	chr8:59582099-59582100	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563350595	chr8:59582112-59582113	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529140799	chr8:59582114-59582115	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549280486	chr8:59582120-59582121	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114080185	chr8:59582126-59582127	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140588828	chr8:59582150-59582151	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551640620	chr8:59582152-59582153	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571319726	chr8:59582153-59582154	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534750297	chr8:59582182-59582183	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537155171	chr8:59582184-59582185	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556963522	chr8:59582208-59582209	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113261055	chr8:59582237-59582238	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145711043	chr8:59582243-59582244	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138658491	chr8:59582280-59582281	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572689643	chr8:59582301-59582302	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529808629	chr8:59582323-59582324	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186475929	chr8:59582332-59582333	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577675495	chr8:59582362-59582363	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75236371	chr8:59582364-59582365	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191279197	chr8:59582387-59582388	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529263968	chr8:59582421-59582422	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs386725914	chr8:59582427-59582428	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79908954	chr8:59582428-59582429	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528420754	chr8:59582439-59582440	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551564639	chr8:59582457-59582458	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs183756450	chr8:59582465-59582466	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530595208	chr8:59582476-59582477	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550676859	chr8:59582478-59582479	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567285049	chr8:59582485-59582486	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369626525	chr8:59582489-59582490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547932862	chr8:59582539-59582540	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373129222	chr8:59582543-59582544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76003578	chr8:59582561-59582562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs76940024	chr8:59582601-59582602	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77518695	chr8:59582665-59582666	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77669029	chr8:59582704-59582705	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs76942490	chr8:59582744-59582745	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543720934	chr8:59582752-59582753	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59572600-59584000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:59573800-59582000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:59573800-59582200	Weak transcription	GM12878-XiMat	blood
4	chr8:59574000-59584000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:59579200-59582000	Weak transcription	NHEK	skin
6	chr8:59579600-59586000	Enhancers	K562	blood
7	chr8:59580000-59582000	Weak transcription	Lung	lung
8	chr8:59580400-59583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:59580800-59582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:59581400-59582400	Enhancers	Placenta	Placenta
11	chr8:59581400-59583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:59581600-59582600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:59581600-59582600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:59581600-59583800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:59582000-59582200	Enhancers	Fetal Thymus	thymus
16	chr8:59582000-59582400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:59582000-59582400	Enhancers	Esophagus	oesophagus
18	chr8:59582000-59582400	Enhancers	Lung	lung
19	chr8:59582000-59582400	Enhancers	NHEK	skin
20	chr8:59582200-59583000	Weak transcription	Fetal Thymus	thymus
21	chr8:59582200-59583200	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:59582200-59583200	Enhancers	GM12878-XiMat	blood
23	chr8:59582200-59585000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:59582200-59585200	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:59582400-59582600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:59582400-59584600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:59582600-59582800	Weak transcription	Placenta	Placenta
28	chr8:59582600-59583000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:59582800-59583800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:59582800-59585200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:59582800-59585200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:59583000-59584000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:59583000-59584000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr8:59583000-59584000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:59583000-59584400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:59583000-59585000	Enhancers	Fetal Thymus	thymus
37	chr8:59583000-59585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:59583200-59584000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:59583200-59584200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:59583400-59583600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:59583400-59584200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:59583400-59585600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:59583600-59583800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr8:59583600-59584000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr8:59583800-59584200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:59583800-59584400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:59583800-59585600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:59584000-59584200	Enhancers	Placenta	Placenta
49	chr8:59584000-59584400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:59584000-59584400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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