Variant report

Variant	nsv528208
Chromosome Location	chr8:110584174-110585288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110582739..110585482-chr8:110585928..110589559,4	MCF-7	breast:
2	chr8:110585014..110586543-chr8:110656460..110658442,2	MCF-7	breast:
3	chr8:110585248..110587621-chr8:110594854..110596894,3	MCF-7	breast:
4	chr8:110584567..110587169-chr8:110600122..110601656,2	K562	blood:

Variant related genes	Relation type
ENSG00000147642	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2154659	chr8:110584174-110584175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570932359	chr8:110584233-110584234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181486588	chr8:110584266-110584267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558824458	chr8:110584272-110584273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538461221	chr8:110584275-110584276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138455532	chr8:110584307-110584308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541785362	chr8:110584326-110584327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537797930	chr8:110584360-110584361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6988341	chr8:110584426-110584427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs574359495	chr8:110584459-110584460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540197354	chr8:110584468-110584469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185975546	chr8:110584525-110584526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576563531	chr8:110584530-110584531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144025092	chr8:110584609-110584610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577821002	chr8:110584632-110584633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547807952	chr8:110584685-110584686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192275351	chr8:110584709-110584710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150637743	chr8:110584814-110584815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184060918	chr8:110584849-110584850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189088432	chr8:110584938-110584939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73317041	chr8:110584968-110584969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560087607	chr8:110584997-110584998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539967620	chr8:110585011-110585012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550295275	chr8:110585043-110585044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111490025	chr8:110585079-110585080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139821963	chr8:110585126-110585127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567846981	chr8:110585273-110585274	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374000544	chr8:110585280-110585281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7824177	chr8:110585288-110585289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
2	chr8:110553800-110613000	Weak transcription	NHLF	lung
3	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
4	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach
5	chr8:110563000-110586800	Weak transcription	Spleen	Spleen
6	chr8:110564400-110587200	Weak transcription	Colonic Mucosa	Colon
7	chr8:110565800-110586800	Weak transcription	NHEK	skin
8	chr8:110567000-110593200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:110567800-110587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:110568000-110586800	Weak transcription	Gastric	stomach
11	chr8:110569400-110586600	Weak transcription	Fetal Heart	heart
12	chr8:110570400-110586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:110570400-110586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:110570400-110587000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:110570400-110593600	Weak transcription	Fetal Brain Male	brain
16	chr8:110570600-110586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:110571000-110589200	Weak transcription	Hela-S3	cervix
18	chr8:110571000-110589200	Weak transcription	NH-A	brain
19	chr8:110571600-110591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:110571600-110592800	Weak transcription	Small Intestine	intestine
21	chr8:110571800-110586800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:110572000-110586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:110572000-110586800	Weak transcription	Fetal Intestine Small	intestine
24	chr8:110572000-110586800	Weak transcription	Pancreas	Pancrea
25	chr8:110572000-110587200	Weak transcription	Fetal Stomach	stomach
26	chr8:110572000-110589000	Weak transcription	Aorta	Aorta
27	chr8:110572800-110586600	Weak transcription	GM12878-XiMat	blood
28	chr8:110573000-110587200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:110573200-110586800	Weak transcription	Fetal Brain Female	brain
30	chr8:110573200-110587800	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:110576000-110586800	Weak transcription	Ovary	ovary
32	chr8:110576200-110586800	Weak transcription	Fetal Intestine Large	intestine
33	chr8:110576200-110587200	Weak transcription	Right Ventricle	heart
34	chr8:110576200-110590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:110577000-110586200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:110577000-110586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:110577000-110586800	Weak transcription	HSMMtube	muscle
38	chr8:110577000-110587200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:110577000-110589400	Weak transcription	K562	blood
40	chr8:110577200-110584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:110577200-110587200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:110577400-110586600	Weak transcription	Fetal Lung	lung
43	chr8:110577400-110586600	Weak transcription	Osteobl	bone
44	chr8:110577400-110590800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:110577800-110586200	Weak transcription	Liver	Liver
46	chr8:110577800-110586400	Weak transcription	HSMM	muscle
47	chr8:110577800-110586800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:110577800-110587200	Weak transcription	Placenta	Placenta
49	chr8:110579400-110586000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:110579400-110587200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links