Variant report

Variant	esv3332047
Chromosome Location	chr8:49702347-49702699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49532689..49535651-chr8:49700291..49702888,3	MCF-7	breast:
2	chr8:49701574..49703321-chr8:49703503..49705202,2	MCF-7	breast:
3	chr8:49700836..49703744-chr8:49721219..49722863,2	MCF-7	breast:
4	chr8:49678177..49680630-chr8:49701086..49703222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	chromatin interactions
ENSG00000253455	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578086092	chr8:49702406-49702407	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190803339	chr8:49702412-49702413	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6982290	chr8:49702425-49702426	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11984867	chr8:49702429-49702430	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542749047	chr8:49702444-49702445	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113622046	chr8:49702446-49702447	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529042159	chr8:49702517-49702518	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547317998	chr8:49702569-49702570	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368890692	chr8:49702586-49702587	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs58219600	chr8:49702638-49702639	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565613079	chr8:49702639-49702640	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49691200-49705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:49698200-49703000	Enhancers	HMEC	breast
3	chr8:49698800-49704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:49699000-49703000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:49699000-49705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:49699200-49703000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:49699400-49705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:49699800-49702400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:49699800-49702400	Enhancers	Spleen	Spleen
10	chr8:49700000-49702600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:49700200-49703400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:49700400-49702400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:49700400-49702400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:49700400-49702400	Enhancers	Pancreas	Pancrea
15	chr8:49700400-49703000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:49700600-49705200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:49701600-49702400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:49701600-49703000	Enhancers	Esophagus	oesophagus
19	chr8:49701600-49703400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:49701600-49704200	Weak transcription	Fetal Kidney	kidney
21	chr8:49701800-49702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:49701800-49703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:49701800-49703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:49701800-49703800	Weak transcription	Fetal Lung	lung
25	chr8:49701800-49704600	Weak transcription	Ovary	ovary
26	chr8:49701800-49704800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:49701800-49704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:49701800-49705000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:49701800-49705400	Weak transcription	Left Ventricle	heart
30	chr8:49701800-49705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:49702000-49702400	Enhancers	Hela-S3	cervix
32	chr8:49702000-49703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:49702000-49703000	Enhancers	NHEK	skin
34	chr8:49702000-49704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:49702000-49704200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:49702000-49705600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:49702200-49702400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:49702200-49702400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:49702200-49702400	Enhancers	Right Ventricle	heart
40	chr8:49702200-49703000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:49702200-49703800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:49702200-49705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:49702200-49705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:49702200-49705400	Weak transcription	HUVEC	blood vessel
45	chr8:49702400-49703800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:49702400-49704400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:49702400-49704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:49702600-49703000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr8:49702600-49703600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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