Variant report

Variant	esv3312791
Chromosome Location	chr16:46664449-46664955
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	chr16:46663477..46665810-chr16:46674721..46676333,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 58 )

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	rs34106723	chr16:46664491-46664492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12933750	chr16:46664493-46664494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35012767	chr16:46664495-46664496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35124275	chr16:46664497-46664498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36065841	chr16:46664499-46664500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56309128	chr16:46664527-46664528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55720456	chr16:46664529-46664530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3932852	chr16:46664535-46664536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs200671251	chr16:46664536-46664537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3932851	chr16:46664537-46664538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113107364	chr16:46664547-46664548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540715457	chr16:46664610-46664611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533764492	chr16:46664645-46664646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8057277	chr16:46664715-46664716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183885796	chr16:46664750-46664751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562089864	chr16:46664785-46664786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188217827	chr16:46664820-46664821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8053364	chr16:46664853-46664854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181391907	chr16:46664888-46664889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377641718	chr16:46664903-46664904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542900387	chr16:46664908-46664909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561414195	chr16:46664950-46664951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528613569	chr16:46664951-46664952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46672600	Weak transcription	Esophagus	oesophagus
2	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
3	chr16:46659200-46672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:46663000-46666800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr16:46663600-46666600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:46663600-46667200	Weak transcription	Fetal Brain Female	brain
7	chr16:46663800-46665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:46663800-46666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:46664000-46665600	Weak transcription	GM12878-XiMat	blood
10	chr16:46664000-46666200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:46664000-46666400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:46664000-46666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:46664000-46666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:46664000-46666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:46664000-46666800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:46664000-46668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:46664000-46682800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:46664200-46665600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:46664200-46665600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:46664200-46665800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:46664200-46665800	Weak transcription	Osteobl	bone
22	chr16:46664200-46666200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:46664200-46666200	Weak transcription	K562	blood
24	chr16:46664200-46666400	Weak transcription	Brain Substantia Nigra	brain
25	chr16:46664200-46666400	Weak transcription	Placenta	Placenta
26	chr16:46664200-46666600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:46664200-46666800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:46664200-46667000	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:46664200-46672000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:46664200-46683000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:46664400-46665400	Weak transcription	HepG2	liver

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