Variant report

Variant	nsv1019701
Chromosome Location	chr8:10254709-10279269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10275131..10275838-chr8:10399365..10400272,2	MCF-7	breast:
2	chr8:10271744..10274704-chr8:10275996..10278041,2	MCF-7	breast:
3	chr8:10271744..10274704-chr8:10275996..10278041,2	MCF-7	breast:
4	chr8:10277398..10280414-chr8:10281254..10284079,3	K562	blood:
5	chr8:10274936..10276062-chr8:10331610..10332507,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS55-4	chr8:10268611-10269075	NONHSAT124981

Variant related genes	Relation type
ENSG00000253641	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570131883	chr8:10254720-10254721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539396111	chr8:10254724-10254725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116768382	chr8:10254750-10254751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576080368	chr8:10254753-10254754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538104796	chr8:10254755-10254756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540664717	chr8:10254767-10254768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555207874	chr8:10254772-10254773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17766353	chr8:10254824-10254825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540943257	chr8:10254831-10254832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560741519	chr8:10254839-10254840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35335502	chr8:10254886-10254887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577339110	chr8:10254924-10254925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28714356	chr8:10254935-10254936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140974465	chr8:10254966-10254967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531835619	chr8:10254988-10254989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149792460	chr8:10255087-10255088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561559271	chr8:10255090-10255091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145779221	chr8:10255091-10255092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13252982	chr8:10255105-10255106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs570395875	chr8:10255107-10255108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59358774	chr8:10255108-10255109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549748679	chr8:10255118-10255119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569507283	chr8:10255124-10255125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535549334	chr8:10255133-10255134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13254263	chr8:10255181-10255182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs575108281	chr8:10255185-10255186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534371452	chr8:10255189-10255190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555940881	chr8:10255206-10255207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148977871	chr8:10255227-10255228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191203403	chr8:10255228-10255229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7821526	chr8:10255231-10255232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112520042	chr8:10255242-10255243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113319112	chr8:10255274-10255275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546132206	chr8:10255296-10255297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562909979	chr8:10255322-10255323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7840461	chr8:10255356-10255357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73662826	chr8:10255370-10255371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369035722	chr8:10255399-10255400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11777976	chr8:10255402-10255403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs527962083	chr8:10255413-10255414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184784763	chr8:10255416-10255417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189198025	chr8:10255469-10255470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77805881	chr8:10255482-10255483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370332031	chr8:10255485-10255486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9657538	chr8:10255494-10255495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533260390	chr8:10255496-10255497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549770374	chr8:10255515-10255516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113710429	chr8:10255553-10255554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368527789	chr8:10255596-10255597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138511321	chr8:10255599-10255600	Weak transcription Enhancers	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
Epilepsy	20502679	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10224000-10255800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10235400-10256800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:10236200-10255800	Weak transcription	Pancreas	Pancrea
5	chr8:10236200-10255800	Weak transcription	Right Ventricle	heart
6	chr8:10240400-10256000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:10240400-10256800	Weak transcription	Left Ventricle	heart
8	chr8:10242000-10255800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:10248400-10255000	Weak transcription	Fetal Brain Female	brain
10	chr8:10249000-10258200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:10250000-10255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:10251200-10255200	Enhancers	Primary T cells from cord blood	blood
14	chr8:10252000-10258200	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:10252400-10257200	Enhancers	HepG2	liver
16	chr8:10252800-10255800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:10253000-10255800	Weak transcription	HSMM	muscle
18	chr8:10253400-10255000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:10253600-10255800	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:10253600-10255800	Weak transcription	Right Atrium	heart
21	chr8:10253800-10254800	Weak transcription	Liver	Liver
22	chr8:10253800-10255000	Weak transcription	HSMMtube	muscle
23	chr8:10253800-10255400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:10253800-10256000	Weak transcription	Fetal Brain Male	brain
25	chr8:10253800-10257800	Weak transcription	Spleen	Spleen
26	chr8:10254000-10254800	Weak transcription	Brain Angular Gyrus	brain
27	chr8:10254000-10255600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:10254200-10261200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:10254400-10257400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:10254800-10256000	Enhancers	Brain Angular Gyrus	brain
31	chr8:10254800-10257000	Enhancers	Liver	Liver
32	chr8:10255000-10255200	Enhancers	Fetal Brain Female	brain
33	chr8:10255000-10255200	Enhancers	HSMMtube	muscle
34	chr8:10255000-10257000	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:10255200-10255600	Weak transcription	Fetal Brain Female	brain
36	chr8:10255200-10255800	Weak transcription	HSMMtube	muscle
37	chr8:10255200-10267800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:10255400-10256000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:10255400-10257000	Enhancers	Brain Anterior Caudate	brain
40	chr8:10255600-10256200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:10255600-10256400	Enhancers	Fetal Brain Female	brain
42	chr8:10255800-10256000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:10255800-10256200	Enhancers	Right Atrium	heart
44	chr8:10255800-10256400	Enhancers	Brain Germinal Matrix	brain
45	chr8:10255800-10256600	Enhancers	Pancreas	Pancrea
46	chr8:10255800-10256600	Enhancers	HSMMtube	muscle
47	chr8:10255800-10256800	Enhancers	Fetal Heart	heart
48	chr8:10255800-10256800	Enhancers	Psoas Muscle	Psoas
49	chr8:10255800-10256800	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:10255800-10256800	Enhancers	HSMM	muscle

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