Variant report

Variant	esv3369170
Chromosome Location	chr8:48611411-48612001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48607821..48609433-chr8:48611384..48613361,2	MCF-7	breast:
2	chr8:48611140..48612961-chr8:48649084..48651075,2	MCF-7	breast:
3	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 88 )

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	rs188459189	chr8:48611437-48611438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78404245	chr8:48611461-48611462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34493642	chr8:48611466-48611467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532306838	chr8:48611490-48611491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552170332	chr8:48611498-48611499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570618854	chr8:48611512-48611513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34265850	chr8:48611522-48611523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542976395	chr8:48611538-48611539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10095193	chr8:48611580-48611581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568308534	chr8:48611583-48611584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568749840	chr8:48611608-48611609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191152371	chr8:48611658-48611659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145238434	chr8:48611707-48611708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566186961	chr8:48611732-48611733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539417424	chr8:48611733-48611734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558143284	chr8:48611738-48611739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182208461	chr8:48611794-48611795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543754813	chr8:48611797-48611798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370156285	chr8:48611841-48611842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555534974	chr8:48611871-48611872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374484395	chr8:48611909-48611910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573933177	chr8:48611932-48611933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140867500	chr8:48611986-48611987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
5	chr8:48590600-48625200	Weak transcription	HepG2	liver
6	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
7	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
9	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
13	chr8:48597200-48647200	Weak transcription	NHEK	skin
14	chr8:48597200-48647400	Weak transcription	HMEC	breast
15	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
18	chr8:48600000-48612600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:48600400-48612600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:48600400-48612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:48600400-48612800	Weak transcription	Dnd41	blood
22	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:48600800-48612800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:48601800-48613000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:48602400-48612800	Weak transcription	Lung	lung
27	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:48602600-48612800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:48603000-48614200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:48603400-48612600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:48604000-48613000	Weak transcription	Fetal Brain Female	brain
34	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
35	chr8:48604400-48612800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
37	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
39	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:48604600-48615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:48605000-48614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:48605000-48614800	Weak transcription	Liver	Liver
43	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:48605200-48612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:48605600-48612800	Weak transcription	Gastric	stomach
46	chr8:48606400-48624400	Weak transcription	Psoas Muscle	Psoas
47	chr8:48606600-48613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:48606600-48615200	Weak transcription	Right Ventricle	heart
49	chr8:48606600-48624000	Weak transcription	Right Atrium	heart
50	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart

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