Variant report

Variant	esv3372098
Chromosome Location	chr8:90994703-90994947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:90993030-90995111	GM12878	blood:	n/a	n/a
2	CUX1	chr8:90994899-90995089	K562	blood:	n/a	n/a
3	EBF1	chr8:90993028-90995036	GM12878	blood:	n/a	chr8:90994136-90994149
4	IRF1	chr8:90994815-90997167	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310
5	MAFF	chr8:90994492-90994784	K562	blood:	n/a	chr8:90994620-90994638
6	MAFF	chr8:90994499-90994803	HepG2	liver:	n/a	chr8:90994620-90994638
7	MAFK	chr8:90994536-90994775	IMR90	lung:	n/a	n/a
8	MAFK	chr8:90994504-90994817	HepG2	liver:	n/a	n/a
9	MAFK	chr8:90994517-90994803	HepG2	liver:	n/a	n/a
10	MXI1	chr8:90993378-90997577	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:90994387-90995097	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:90993336-90997456	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:90993266-90997261	GM18505	blood:	n/a	n/a
15	STAT3	chr8:90994728-90994926	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
16	STAT3	chr8:90994775-90994956	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
17	STAT3	chr8:90994784-90994941	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
18	TBP	chr8:90994830-90997193	GM12878	blood:	n/a	n/a
19	WRNIP1	chr8:90994889-90995091	GM12878	blood:	n/a	n/a
20	ZC3H11A	chr8:90994901-90995090	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
2	chr8:90889480..90891758-chr8:90994219..90995933,2	MCF-7	breast:
3	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
4	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
5	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
6	chr8:90953083..90955250-chr8:90994003..90995794,2	K562	blood:
7	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
8	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
9	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
10	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
11	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104312	chromatin interactions
ENSG00000251136	chromatin interactions
ENSG00000164823	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000207359	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000246792	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571495151	chr8:90994782-90994783	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs533145488	chr8:90994796-90994797	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs570894117	chr8:90994806-90994807	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs13312854	chr8:90994817-90994818	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187129819	chr8:90994845-90994846	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs375194225	chr8:90994917-90994918	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs369200043	chr8:90994923-90994924	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs533996230	chr8:90994928-90994929	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
2	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
4	chr8:90971800-90995600	Weak transcription	Right Ventricle	heart
5	chr8:90975600-90995800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:90976200-90995800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:90976400-90995400	Weak transcription	Thymus	Thymus
8	chr8:90976400-90995600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:90976400-90995800	Weak transcription	Esophagus	oesophagus
10	chr8:90980800-90995600	Weak transcription	Ovary	ovary
11	chr8:90981600-90994800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:90983800-90994800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:90983800-90995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:90987000-90996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:90987200-90996000	Weak transcription	Spleen	Spleen
16	chr8:90989000-90995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:90989000-90995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:90989000-90996000	Weak transcription	Gastric	stomach
19	chr8:90989600-90995600	Weak transcription	Left Ventricle	heart
20	chr8:90990200-90995400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:90990200-90995400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:90990200-90995600	Weak transcription	Lung	lung
23	chr8:90990200-90995800	Weak transcription	Pancreas	Pancrea
24	chr8:90990600-90994800	Weak transcription	Fetal Intestine Large	intestine
25	chr8:90991400-90996200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
27	chr8:90991800-90994800	Weak transcription	HMEC	breast
28	chr8:90992200-90995600	Weak transcription	Placenta	Placenta
29	chr8:90992800-90995400	Weak transcription	Fetal Thymus	thymus
30	chr8:90993000-90995200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:90993000-90995400	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:90993000-90996200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:90993200-90995000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr8:90993200-90995600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:90993200-90995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:90993200-90995800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:90993400-90994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:90993400-90994800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:90993400-90995200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:90993400-90995400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:90993400-90995400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:90993400-90995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr8:90993600-90994800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:90993600-90994800	Flanking Active TSS	A549	lung
47	chr8:90993600-90994800	Enhancers	NHEK	skin
48	chr8:90993600-90995200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:90993600-90995400	Enhancers	Brain Hippocampus Middle	brain
50	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links