Variant report

Variant	nsv398101
Chromosome Location	chr8:66532375-66533034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66532015..66534641-chr8:66544664..66547461,2	MCF-7	breast:
2	chr8:66532234..66535981-chr8:66546059..66548222,3	K562	blood:

Variant related genes	Relation type
ENSG00000104442	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146346320	chr8:66532451-66532452	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138207252	chr8:66532462-66532463	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566000514	chr8:66532575-66532576	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183804642	chr8:66532586-66532587	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149564795	chr8:66532599-66532600	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200499428	chr8:66532613-66532614	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13281155	chr8:66532623-66532624	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs536847042	chr8:66532629-66532630	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200095973	chr8:66532674-66532675	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148485973	chr8:66532738-66532739	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10100131	chr8:66532765-66532766	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs111417649	chr8:66532777-66532778	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386360668	chr8:66532778-66532779	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35879088	chr8:66532822-66532823	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187943954	chr8:66532879-66532880	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147213869	chr8:66532887-66532888	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552519520	chr8:66532909-66532910	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551798170	chr8:66532942-66532943	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192820693	chr8:66532972-66532973	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140558416	chr8:66532993-66532994	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144401948	chr8:66532994-66532995	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571606331	chr8:66533028-66533029	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184020588	chr8:66533034-66533035	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
5	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
8	chr8:66517200-66533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
12	chr8:66520000-66545000	Weak transcription	NHEK	skin
13	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:66521600-66533200	Weak transcription	HMEC	breast
15	chr8:66522200-66535200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
18	chr8:66525600-66533000	Weak transcription	Primary B cells from cord blood	blood
19	chr8:66525600-66533800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:66525600-66533800	Weak transcription	Pancreas	Pancrea
21	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
22	chr8:66526000-66533000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:66526000-66533200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:66526000-66537000	Weak transcription	Gastric	stomach
25	chr8:66526000-66539000	Weak transcription	NHLF	lung
26	chr8:66526600-66532800	Weak transcription	GM12878-XiMat	blood
27	chr8:66527400-66533200	Weak transcription	HSMM	muscle
28	chr8:66527600-66533000	Weak transcription	NH-A	brain
29	chr8:66527600-66535200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:66527600-66535600	Strong transcription	Lung	lung
31	chr8:66527600-66537400	Weak transcription	NHDF-Ad	bronchial
32	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:66528000-66535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:66528400-66533000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:66529200-66535000	Strong transcription	Thymus	Thymus
36	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:66529600-66534800	Strong transcription	Brain Germinal Matrix	brain
38	chr8:66529600-66535000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr8:66529600-66537600	Strong transcription	Fetal Stomach	stomach
40	chr8:66529600-66539600	Strong transcription	Fetal Intestine Large	intestine
41	chr8:66529600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:66529800-66535000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:66529800-66535000	Strong transcription	Primary T cells from cord blood	blood
47	chr8:66529800-66535000	Strong transcription	Fetal Brain Female	brain
48	chr8:66529800-66535000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:66529800-66535200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:66529800-66535200	Strong transcription	Liver	Liver

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