Variant report

Variant	nsv9235
Chromosome Location	chr15:31866160-31872108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370255361	chr15:31866185-31866186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149088088	chr15:31866234-31866235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144633238	chr15:31866262-31866263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549996436	chr15:31866292-31866293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200075698	chr15:31866340-31866341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563035153	chr15:31866346-31866347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146701683	chr15:31866365-31866366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190234822	chr15:31866381-31866382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578195450	chr15:31866421-31866422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527301168	chr15:31866477-31866478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367980587	chr15:31866556-31866557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181851561	chr15:31866602-31866603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534647423	chr15:31866604-31866605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547749611	chr15:31866621-31866622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567993489	chr15:31866690-31866691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140216517	chr15:31866716-31866717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59152711	chr15:31866747-31866748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11071187	chr15:31866748-31866749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145226012	chr15:31866788-31866789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539160142	chr15:31866839-31866840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147989167	chr15:31866890-31866891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8039479	chr15:31866891-31866892	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567559729	chr15:31866934-31866935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541445594	chr15:31866941-31866942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561023228	chr15:31866957-31866958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79921021	chr15:31866968-31866969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543230667	chr15:31866996-31866997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574077778	chr15:31867039-31867040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376754898	chr15:31867040-31867041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543173108	chr15:31867044-31867045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563164400	chr15:31867053-31867054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532043115	chr15:31867113-31867114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531675532	chr15:31867117-31867118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551839475	chr15:31867118-31867119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559048443	chr15:31867167-31867168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528069078	chr15:31867260-31867261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60832561	chr15:31867267-31867268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs67989702	chr15:31867290-31867291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536952256	chr15:31867301-31867302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150282190	chr15:31867305-31867306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570282399	chr15:31867363-31867364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539273037	chr15:31867415-31867416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12592354	chr15:31867463-31867464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189645722	chr15:31867478-31867479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534700249	chr15:31867564-31867565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553989077	chr15:31867574-31867575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554958438	chr15:31867673-31867674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138871555	chr15:31867677-31867678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543327962	chr15:31867684-31867685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78642212	chr15:31867778-31867779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31846400-31867800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:31851400-31867000	Weak transcription	Ovary	ovary
3	chr15:31860400-31870200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:31861200-31866800	Weak transcription	Brain Angular Gyrus	brain
5	chr15:31862200-31866800	Weak transcription	Brain Anterior Caudate	brain
6	chr15:31862400-31866800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:31862400-31866800	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:31862400-31866800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:31862400-31867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:31862400-31867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:31862400-31867000	Weak transcription	Brain Substantia Nigra	brain
12	chr15:31862400-31877600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:31862400-31897000	Weak transcription	Gastric	stomach
14	chr15:31864600-31867200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:31866800-31867200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:31866800-31867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:31866800-31867800	Enhancers	Brain Angular Gyrus	brain
18	chr15:31866800-31867800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:31866800-31868000	Enhancers	Brain Anterior Caudate	brain
20	chr15:31866800-31868000	Enhancers	Brain Cingulate Gyrus	brain
21	chr15:31866800-31868200	Enhancers	Brain Hippocampus Middle	brain
22	chr15:31867000-31867200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:31867000-31867400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:31867000-31867400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:31867000-31867400	Enhancers	Right Atrium	heart
26	chr15:31867000-31867600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:31867000-31867800	Enhancers	Ovary	ovary
28	chr15:31867000-31868000	Enhancers	Brain Substantia Nigra	brain
29	chr15:31867200-31867800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:31867200-31868400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:31867400-31867600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr15:31867400-31870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:31867600-31868600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:31867600-31868600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr15:31867600-31870200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:31867600-31876600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:31867800-31868000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr15:31867800-31868200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:31867800-31868400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:31867800-31869400	Weak transcription	Ovary	ovary
41	chr15:31867800-31870000	Weak transcription	Brain Angular Gyrus	brain
42	chr15:31867800-31870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr15:31867800-31871600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:31868000-31869000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:31868000-31871400	Weak transcription	Brain Substantia Nigra	brain
46	chr15:31868000-31871600	Weak transcription	Brain Anterior Caudate	brain
47	chr15:31868200-31870000	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:31868200-31870800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:31868200-31880800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:31868400-31868600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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