Variant report

Variant	nsv9234
Chromosome Location	chr15:31757872-31765879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 371 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112234011	chr15:31757878-31757879	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs28673491	chr15:31757892-31757893	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530698618	chr15:31757897-31757898	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35520195	chr15:31757939-31757940	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201018197	chr15:31757940-31757941	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71422890	chr15:31757941-31757942	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377344332	chr15:31757942-31757943	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12148181	chr15:31757972-31757973	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147965798	chr15:31757996-31757997	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138473703	chr15:31758045-31758046	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566568856	chr15:31758054-31758055	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12148161	chr15:31758082-31758083	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75710546	chr15:31758115-31758116	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11071070	chr15:31758161-31758162	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556238961	chr15:31758202-31758203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144037311	chr15:31758211-31758212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7183105	chr15:31758218-31758219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs570913302	chr15:31758223-31758224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35903207	chr15:31758233-31758234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10851568	chr15:31758244-31758245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10851569	chr15:31758333-31758334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537116259	chr15:31758378-31758379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576319369	chr15:31758388-31758389	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs35412217	chr15:31758389-31758390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71110881	chr15:31758392-31758393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7170388	chr15:31758398-31758399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7164969	chr15:31758399-31758400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572988975	chr15:31758408-31758409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572227917	chr15:31758418-31758419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541953253	chr15:31758432-31758433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28661575	chr15:31758456-31758457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116181222	chr15:31758475-31758476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186850509	chr15:31758513-31758514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544142609	chr15:31758523-31758524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150630832	chr15:31758525-31758526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543906882	chr15:31758532-31758533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577907024	chr15:31758534-31758535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113494201	chr15:31758549-31758550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2169020	chr15:31758554-31758555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4401013	chr15:31758590-31758591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34453707	chr15:31758593-31758594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190871226	chr15:31758594-31758595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139544194	chr15:31758600-31758601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2125616	chr15:31758603-31758604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552992747	chr15:31758613-31758614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539783986	chr15:31758652-31758653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546773838	chr15:31758706-31758707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566751369	chr15:31758713-31758714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535526577	chr15:31758716-31758717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4451913	chr15:31758729-31758730	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:247 , 50 per page) page: 1 2 3 4 5

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	chr15:31755800-31758000	Enhancers	Stomach Mucosa	stomach
5	chr15:31755800-31758200	Enhancers	Esophagus	oesophagus
6	chr15:31756600-31758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:31756600-31758400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr15:31757000-31758200	Enhancers	Pancreas	Pancrea
9	chr15:31757000-31759600	Weak transcription	Primary B cells from cord blood	blood
10	chr15:31757200-31758200	Flanking Active TSS	Hela-S3	cervix
11	chr15:31757400-31758200	Flanking Active TSS	HMEC	breast
12	chr15:31757600-31758000	Active TSS	Duodenum Mucosa	Duodenum
13	chr15:31757600-31758000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr15:31757600-31758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:31757600-31758000	Enhancers	NHEK	skin
16	chr15:31757600-31759400	Enhancers	Colonic Mucosa	Colon
17	chr15:31757600-31759600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:31757800-31758200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:31757800-31758200	Enhancers	Gastric	stomach
20	chr15:31757800-31758200	Enhancers	A549	lung
21	chr15:31757800-31758400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:31757800-31763400	Weak transcription	Spleen	Spleen
23	chr15:31758000-31758200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:31758000-31758200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:31758000-31758200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:31758000-31758200	Flanking Active TSS	Stomach Mucosa	stomach
27	chr15:31758000-31758200	Flanking Active TSS	NHEK	skin
28	chr15:31758000-31758400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr15:31758000-31758400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:31758200-31758400	Enhancers	Hela-S3	cervix
31	chr15:31758200-31758600	Enhancers	HMEC	breast
32	chr15:31758200-31760200	Enhancers	NHEK	skin
33	chr15:31758200-31760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:31758200-31764600	Weak transcription	Esophagus	oesophagus
35	chr15:31758200-31764600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:31758200-31774800	Weak transcription	Gastric	stomach
37	chr15:31758200-31775400	Weak transcription	Pancreas	Pancrea
38	chr15:31758400-31759400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:31758400-31760200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:31758400-31760200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr15:31758400-31760800	Enhancers	Duodenum Mucosa	Duodenum
42	chr15:31758600-31763600	Weak transcription	HMEC	breast
43	chr15:31759400-31760800	Weak transcription	Colonic Mucosa	Colon
44	chr15:31759400-31764200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:31759600-31760000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr15:31759600-31760400	Enhancers	Primary B cells from cord blood	blood
47	chr15:31759600-31761000	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:31759800-31760000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:31759800-31760000	Enhancers	GM12878-XiMat	blood
50	chr15:31760000-31760200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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