Variant report

Variant	nsv890346
Chromosome Location	chr8:10075373-10103435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:
2	chr5:118406656..118407337-chr8:10095570..10096070,2	Hela-S3	cervix:
3	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:

Variant related genes	Relation type
ENSG00000172869	chromatin interactions

Extended variants
information (count: 1748 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1748 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12548393	chr8:10075373-10075374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140591712	chr8:10075386-10075387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150495308	chr8:10075407-10075408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112910224	chr8:10075436-10075437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141131665	chr8:10075442-10075443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568442823	chr8:10075469-10075470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534043306	chr8:10075498-10075499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374141634	chr8:10075504-10075505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185208912	chr8:10075519-10075520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554044145	chr8:10075531-10075532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17151367	chr8:10075555-10075556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542946051	chr8:10075567-10075568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556218912	chr8:10075568-10075569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146949976	chr8:10075569-10075570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541444100	chr8:10075624-10075625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374753700	chr8:10075625-10075626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561846945	chr8:10075626-10075627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543061822	chr8:10075666-10075667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545977088	chr8:10075670-10075671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527390138	chr8:10075677-10075678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11249975	chr8:10075698-10075699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs10102391	chr8:10075699-10075700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532669713	chr8:10075701-10075702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190124844	chr8:10075719-10075720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568924948	chr8:10075732-10075733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11249976	chr8:10075745-10075746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548290544	chr8:10075752-10075753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148259564	chr8:10075759-10075760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181288121	chr8:10075764-10075765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570635454	chr8:10075800-10075801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10092727	chr8:10075816-10075817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150799924	chr8:10075835-10075836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576381364	chr8:10075847-10075848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541853773	chr8:10075892-10075893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374226019	chr8:10075893-10075894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572115810	chr8:10075904-10075905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10103496	chr8:10075909-10075910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560334596	chr8:10075911-10075912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532533369	chr8:10075926-10075927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545967604	chr8:10075951-10075952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142783673	chr8:10075953-10075954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529906424	chr8:10075971-10075972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531903378	chr8:10075998-10075999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114397845	chr8:10076011-10076012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561890427	chr8:10076015-10076016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75020250	chr8:10076030-10076031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550146553	chr8:10076052-10076053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547542446	chr8:10076057-10076058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570944646	chr8:10076069-10076070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184966073	chr8:10076082-10076083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
2	chr8:10055400-10078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:10055600-10086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:10058400-10077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:10058400-10086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10060200-10103000	Weak transcription	Gastric	stomach
7	chr8:10062600-10078200	Weak transcription	Pancreas	Pancrea
8	chr8:10062600-10078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10062800-10078200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:10063600-10075400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:10064400-10086000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:10064800-10079600	Weak transcription	Primary B cells from cord blood	blood
13	chr8:10065200-10078400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:10068000-10079400	Weak transcription	Ovary	ovary
15	chr8:10068200-10081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:10072000-10078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:10072400-10078000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:10072600-10076200	Weak transcription	Fetal Brain Female	brain
19	chr8:10072600-10077400	Weak transcription	NHDF-Ad	bronchial
20	chr8:10072600-10077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:10073000-10089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:10073200-10076200	Weak transcription	Fetal Brain Male	brain
23	chr8:10073200-10081800	Weak transcription	Liver	Liver
24	chr8:10074400-10080000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:10076200-10076800	Enhancers	Fetal Brain Female	brain
26	chr8:10076200-10079200	Enhancers	Fetal Brain Male	brain
27	chr8:10076800-10078400	Weak transcription	Fetal Brain Female	brain
28	chr8:10077400-10079200	Enhancers	NHDF-Ad	bronchial
29	chr8:10077600-10078400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:10077600-10078600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:10077600-10078800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:10077600-10079000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:10077800-10078600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:10077800-10078600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:10078000-10078600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:10078000-10079200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:10078000-10079600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:10078200-10078600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:10078200-10078600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:10078200-10078600	ZNF genes & repeats	Pancreas	Pancrea
41	chr8:10078200-10078600	Enhancers	HMEC	breast
42	chr8:10078200-10078600	Enhancers	NHLF	lung
43	chr8:10078200-10078800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:10078200-10078800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:10078200-10078800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:10078200-10078800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:10078200-10078800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:10078200-10078800	Enhancers	Brain Germinal Matrix	brain
49	chr8:10078200-10078800	Enhancers	Brain Hippocampus Middle	brain
50	chr8:10078200-10079400	Enhancers	Cortex derived primary cultured neurospheres	brain

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