Variant report

Variant	esv987804
Chromosome Location	chr15:31759517-31760171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201724393	chr15:31759517-31759518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200236088	chr15:31759520-31759521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202200801	chr15:31759521-31759522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55985930	chr15:31759522-31759523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56344000	chr15:31759524-31759525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567555782	chr15:31759546-31759547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556968549	chr15:31759578-31759579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138550125	chr15:31759584-31759585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560334644	chr15:31759587-31759588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576177708	chr15:31759604-31759605	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs545052621	chr15:31759610-31759611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs143944695	chr15:31759692-31759693	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs537163839	chr15:31759737-31759738	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs558377499	chr15:31759738-31759739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12439195	chr15:31759766-31759767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144345105	chr15:31759767-31759768	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs117673955	chr15:31759787-31759788	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs200116877	chr15:31759799-31759800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs12441529	chr15:31759804-31759805	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563066259	chr15:31759864-31759865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs148359700	chr15:31759907-31759908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551807529	chr15:31759916-31759917	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs28655541	chr15:31759926-31759927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12441571	chr15:31759972-31759973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12441399	chr15:31759975-31759976	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs151288052	chr15:31759984-31759985	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs374319339	chr15:31759990-31759991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs76729421	chr15:31759997-31759998	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs567689723	chr15:31760024-31760025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529589913	chr15:31760043-31760044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113291506	chr15:31760136-31760137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28703622	chr15:31760170-31760171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31749200-31764000	Weak transcription	Right Atrium	heart
2	chr15:31752000-31763800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:31754400-31761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:31757000-31759600	Weak transcription	Primary B cells from cord blood	blood
5	chr15:31757600-31759600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr15:31757800-31763400	Weak transcription	Spleen	Spleen
7	chr15:31758200-31760200	Enhancers	NHEK	skin
8	chr15:31758200-31760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:31758200-31764600	Weak transcription	Esophagus	oesophagus
10	chr15:31758200-31764600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:31758200-31774800	Weak transcription	Gastric	stomach
12	chr15:31758200-31775400	Weak transcription	Pancreas	Pancrea
13	chr15:31758400-31760200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:31758400-31760200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr15:31758400-31760800	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:31758600-31763600	Weak transcription	HMEC	breast
17	chr15:31759400-31760800	Weak transcription	Colonic Mucosa	Colon
18	chr15:31759400-31764200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:31759600-31760000	Bivalent Enhancer	Fetal Stomach	stomach
20	chr15:31759600-31760400	Enhancers	Primary B cells from cord blood	blood
21	chr15:31759600-31761000	Enhancers	Primary B cells from peripheral blood	blood
22	chr15:31759800-31760000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:31759800-31760000	Enhancers	GM12878-XiMat	blood
24	chr15:31760000-31760200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:31760000-31760200	Enhancers	Fetal Kidney	kidney
26	chr15:31760000-31762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:31760000-31762600	Weak transcription	GM12878-XiMat	blood

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