Variant report

Variant	nsv817679
Chromosome Location	chr15:31787108-31795199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31789301..31792220-chr15:31792871..31795372,2	K562	blood:
2	chr15:31780894..31782465-chr15:31785232..31787543,2	MCF-7	breast:
3	chr15:31789301..31792220-chr15:31792871..31795372,2	K562	blood:

Extended variants
information (count: 302 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4779536	chr15:31787108-31787109	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192529119	chr15:31787141-31787142	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7181294	chr15:31787181-31787182	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74010666	chr15:31787196-31787197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560764894	chr15:31787213-31787214	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529757529	chr15:31787216-31787217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7181440	chr15:31787222-31787223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550593755	chr15:31787232-31787233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182509246	chr15:31787244-31787245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568900749	chr15:31787288-31787289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532005954	chr15:31787290-31787291	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552227804	chr15:31787298-31787299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74643460	chr15:31787334-31787335	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370867648	chr15:31787367-31787368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75420315	chr15:31787395-31787396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144754189	chr15:31787423-31787424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17816007	chr15:31787428-31787429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs10162758	chr15:31787445-31787446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147870388	chr15:31787461-31787462	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570166565	chr15:31787479-31787480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114115238	chr15:31787501-31787502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558550715	chr15:31787513-31787514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187163074	chr15:31787545-31787546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534605213	chr15:31787551-31787552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558235068	chr15:31787610-31787611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191214722	chr15:31787611-31787612	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73370534	chr15:31787635-31787636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543646613	chr15:31787698-31787699	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541454130	chr15:31787725-31787726	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563224288	chr15:31787768-31787769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372654698	chr15:31787897-31787898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576890209	chr15:31787919-31787920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373747221	chr15:31787941-31787942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564318576	chr15:31787958-31787959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377030398	chr15:31787987-31787988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59942460	chr15:31788065-31788066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527950289	chr15:31788136-31788137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150165126	chr15:31788147-31788148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183724417	chr15:31788152-31788153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12904703	chr15:31788154-31788155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560388663	chr15:31788245-31788246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61033035	chr15:31788258-31788259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373787219	chr15:31788269-31788270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34962324	chr15:31788284-31788285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62004069	chr15:31788304-31788305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115922642	chr15:31788312-31788313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367551188	chr15:31788345-31788346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538768689	chr15:31788351-31788352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527434113	chr15:31788362-31788363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190271729	chr15:31788369-31788370	Weak transcription	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31782400-31790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31782400-31821000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:31785400-31794800	Weak transcription	Ovary	ovary
4	chr15:31785800-31789600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:31786200-31787400	Strong transcription	Brain Angular Gyrus	brain
6	chr15:31786200-31788000	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr15:31786400-31787800	Strong transcription	Brain Anterior Caudate	brain
8	chr15:31786600-31792400	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:31786600-31800400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:31786800-31787200	ZNF genes & repeats	Pancreas	Pancrea
11	chr15:31786800-31787800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr15:31787000-31787400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:31787000-31790000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:31787200-31810800	Weak transcription	Pancreas	Pancrea
15	chr15:31787400-31791600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:31787400-31793800	Weak transcription	Brain Angular Gyrus	brain
17	chr15:31787800-31790000	Weak transcription	Brain Anterior Caudate	brain
18	chr15:31787800-31791000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:31788000-31792600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:31789000-31793000	Weak transcription	Fetal Brain Female	brain
21	chr15:31789600-31796200	Strong transcription	Brain Substantia Nigra	brain
22	chr15:31789800-31790400	Enhancers	Colonic Mucosa	Colon
23	chr15:31790000-31790400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr15:31790000-31791200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:31790000-31791200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:31790000-31796200	Strong transcription	Brain Anterior Caudate	brain
27	chr15:31790200-31790400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:31790200-31791000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:31790400-31791600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:31790400-31791800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:31790400-31795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:31790800-31791800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:31790800-31791800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:31790800-31791800	Enhancers	NHEK	skin
35	chr15:31791000-31791200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:31791000-31791800	Enhancers	HMEC	breast
37	chr15:31791000-31792000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:31791000-31792200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:31791200-31792000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr15:31791400-31791800	Enhancers	Esophagus	oesophagus
41	chr15:31791400-31792200	Enhancers	Fetal Muscle Trunk	muscle
42	chr15:31791600-31792000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:31791600-31792400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:31791600-31793000	Enhancers	Right Ventricle	heart
45	chr15:31791600-31793200	Enhancers	GM12878-XiMat	blood
46	chr15:31791600-31797000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr15:31791800-31792000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr15:31791800-31792600	Weak transcription	Esophagus	oesophagus
49	chr15:31791800-31793200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:31791800-31793200	Enhancers	Placenta	Placenta

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