Variant report

Variant	nsv523113
Chromosome Location	chr8:10482372-10485822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10483740..10486266-chr8:10497688..10499815,2	MCF-7	breast:
2	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
3	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
4	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs9329228	chr8:10482372-10482373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535046106	chr8:10482378-10482379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377540723	chr8:10482404-10482405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60518106	chr8:10482407-10482408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574766572	chr8:10482412-10482413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531057492	chr8:10482450-10482451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534251738	chr8:10482506-10482507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554325683	chr8:10482512-10482513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550753239	chr8:10482514-10482515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10094099	chr8:10482527-10482528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539748029	chr8:10482537-10482538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547245735	chr8:10482542-10482543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546273234	chr8:10482548-10482549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117055144	chr8:10482562-10482563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145719362	chr8:10482564-10482565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560833343	chr8:10482568-10482569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531517878	chr8:10482582-10482583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11993697	chr8:10482589-10482590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188260116	chr8:10482592-10482593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190897224	chr8:10482596-10482597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374620149	chr8:10482609-10482610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73201165	chr8:10482618-10482619	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73201166	chr8:10482640-10482641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs549959343	chr8:10482681-10482682	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs569380693	chr8:10482689-10482690	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs6992420	chr8:10482716-10482717	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28605304	chr8:10482731-10482732	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188849418	chr8:10482737-10482738	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs534495349	chr8:10482738-10482739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs4292650	chr8:10482740-10482741	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571125538	chr8:10482750-10482751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs138339478	chr8:10482758-10482759	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs556810091	chr8:10482825-10482826	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs540177617	chr8:10482858-10482859	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs576576280	chr8:10482867-10482868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs368049240	chr8:10482868-10482869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs188005367	chr8:10482884-10482885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs553998633	chr8:10482892-10482893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs572396973	chr8:10482898-10482899	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541419287	chr8:10482906-10482907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs564187816	chr8:10482923-10482924	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs533275531	chr8:10482925-10482926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs543187201	chr8:10482931-10482932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs75347109	chr8:10482953-10482954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs528938067	chr8:10483002-10483003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs548707968	chr8:10483092-10483093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs573190620	chr8:10483101-10483102	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs192430842	chr8:10483111-10483112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs528025552	chr8:10483153-10483154	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs79570931	chr8:10483178-10483179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
2	chr8:10477000-10482800	Weak transcription	Spleen	Spleen
3	chr8:10481400-10487800	Weak transcription	Pancreas	Pancrea
4	chr8:10482200-10484000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10482400-10482600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:10482400-10487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:10482600-10484000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:10482600-10484200	Enhancers	HUVEC	blood vessel
9	chr8:10482600-10488800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:10482800-10483800	Enhancers	Spleen	Spleen
11	chr8:10482800-10484000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:10482800-10484000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:10482800-10484000	Enhancers	Lung	lung
14	chr8:10483000-10483800	Bivalent Enhancer	Right Ventricle	heart
15	chr8:10483000-10484200	Enhancers	Fetal Muscle Leg	muscle
16	chr8:10483200-10483400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10483200-10483800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:10483200-10483800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:10483200-10483800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:10483200-10484000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:10483200-10484000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:10483200-10484000	Enhancers	Ovary	ovary
23	chr8:10483200-10484000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:10483200-10484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:10483200-10484200	Bivalent Enhancer	Fetal Stomach	stomach
26	chr8:10483400-10483600	Enhancers	Left Ventricle	heart
27	chr8:10483400-10484000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:10483400-10484000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:10483400-10484000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:10483400-10484000	Enhancers	NH-A	brain
31	chr8:10483400-10484200	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:10483400-10484200	Enhancers	Adipose Nuclei	Adipose
33	chr8:10483600-10484000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:10483600-10484200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:10483600-10486400	Weak transcription	Left Ventricle	heart
36	chr8:10483800-10484000	Enhancers	Right Ventricle	heart
37	chr8:10483800-10486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:10483800-10487400	Weak transcription	Spleen	Spleen
39	chr8:10484000-10484200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:10484000-10485600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:10484000-10487400	Weak transcription	Lung	lung
42	chr8:10484000-10487600	Weak transcription	Ovary	ovary
43	chr8:10484000-10487600	Weak transcription	Right Ventricle	heart
44	chr8:10484000-10487600	Weak transcription	NH-A	brain
45	chr8:10484000-10487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:10484000-10488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:10484000-10488000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:10484200-10484400	Enhancers	Fetal Kidney	kidney
49	chr8:10484200-10485400	Weak transcription	HUVEC	blood vessel
50	chr8:10484200-10486000	Weak transcription	Fetal Muscle Leg	muscle

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