Variant report

Variant	nsv977759
Chromosome Location	chr15:99798851-99799851
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	chr15:99791300..99794285-chr15:99798721..99800765,2	K562	blood:

Variant related genes	Relation type
ENSG00000103852	chromatin interactions
ENSG00000168904	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567350020	chr15:99798876-99798877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565073191	chr15:99798918-99798919	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7162949	chr15:99798934-99798935	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181366365	chr15:99798975-99798976	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565598722	chr15:99799010-99799011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs60428926	chr15:99799014-99799015	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7164561	chr15:99799037-99799038	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145982084	chr15:99799060-99799061	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576176230	chr15:99799087-99799088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569327817	chr15:99799093-99799094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115501203	chr15:99799110-99799111	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558399578	chr15:99799116-99799117	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139812324	chr15:99799169-99799170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143120276	chr15:99799174-99799175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553537808	chr15:99799224-99799225	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184971685	chr15:99799235-99799236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536176251	chr15:99799261-99799262	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558560984	chr15:99799268-99799269	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557357335	chr15:99799289-99799290	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575742454	chr15:99799321-99799322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546256902	chr15:99799322-99799323	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146668978	chr15:99799327-99799328	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573297456	chr15:99799379-99799380	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs80214911	chr15:99799380-99799381	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62023769	chr15:99799474-99799475	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529905381	chr15:99799533-99799534	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534840193	chr15:99799579-99799580	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117293722	chr15:99799715-99799716	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs562925118	chr15:99799747-99799748	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1976589	chr15:99799750-99799751	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs552243585	chr15:99799751-99799752	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570408906	chr15:99799775-99799776	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571646890	chr15:99799804-99799805	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112430754	chr15:99799817-99799818	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113040519	chr15:99799834-99799835	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201415351	chr15:99799851-99799852	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99802800	Weak transcription	Esophagus	oesophagus
2	chr15:99792200-99807400	Weak transcription	Ovary	ovary
3	chr15:99792200-99846400	Weak transcription	Lung	lung
4	chr15:99792400-99804200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:99792600-99832200	Weak transcription	Aorta	Aorta
6	chr15:99792800-99801600	Weak transcription	Fetal Stomach	stomach
7	chr15:99792800-99802800	Weak transcription	A549	lung
8	chr15:99792800-99804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:99792800-99804600	Weak transcription	Placenta	Placenta
10	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
11	chr15:99793000-99799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:99793000-99799400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:99793000-99803200	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:99793000-99804200	Weak transcription	Fetal Heart	heart
15	chr15:99793000-99804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:99793000-99804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:99793000-99805400	Weak transcription	Fetal Brain Female	brain
18	chr15:99793000-99823800	Weak transcription	Fetal Brain Male	brain
19	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:99793000-99866600	Weak transcription	Gastric	stomach
22	chr15:99793200-99804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:99793200-99805600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:99793200-99805800	Weak transcription	Brain Germinal Matrix	brain
25	chr15:99793200-99808000	Weak transcription	Fetal Kidney	kidney
26	chr15:99793200-99822400	Weak transcription	Adipose Nuclei	Adipose
27	chr15:99793400-99803000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:99794000-99804200	Weak transcription	Thymus	Thymus
29	chr15:99794000-99804400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:99794000-99804400	Weak transcription	Spleen	Spleen
31	chr15:99794000-99805000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:99794000-99808400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:99794000-99830800	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:99794000-99840000	Weak transcription	Brain Anterior Caudate	brain
35	chr15:99794000-99846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:99794200-99799200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:99794200-99799600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:99794200-99799600	Weak transcription	Psoas Muscle	Psoas
39	chr15:99794200-99801000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:99794200-99802400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:99794200-99804000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:99794200-99804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:99794200-99808600	Weak transcription	Pancreas	Pancrea
44	chr15:99794200-99814000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:99794200-99815600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:99794200-99815600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:99794200-99834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:99794200-99847000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:99794400-99799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:99794400-99804000	Weak transcription	HMEC	breast

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