Variant report

Variant	nsv528988
Chromosome Location	chr8:90475375-90608246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90481059..90483320-chr8:90483632..90486597,2	MCF-7	breast:
2	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
3	chr8:90497830..90499463-chr8:90622312..90625050,2	MCF-7	breast:
4	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
5	chr8:90579098..90579926-chr8:90624854..90625740,2	MCF-7	breast:
6	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
7	chr8:90531640..90533471-chr8:90537181..90540329,3	MCF-7	breast:
8	chr8:90476514..90479734-chr8:90482922..90486651,5	MCF-7	breast:
9	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:
10	chr8:90508884..90510843-chr8:90512576..90514659,2	K562	blood:
11	chr8:90576363..90578196-chr8:90582814..90584387,2	MCF-7	breast:
12	chr8:90509802..90512432-chr8:90513213..90514927,2	MCF-7	breast:
13	chr8:90531780..90534462-chr8:90543332..90544920,2	MCF-7	breast:
14	chr8:90515684..90517302-chr8:90531815..90534034,2	MCF-7	breast:
15	chr8:90481059..90483320-chr8:90483632..90486597,2	MCF-7	breast:
16	chr8:90545613..90547386-chr8:90627990..90630572,2	MCF-7	breast:
17	chr8:90531780..90534462-chr8:90543332..90544920,2	MCF-7	breast:
18	chr8:90539182..90543934-chr8:90545577..90548881,5	MCF-7	breast:
19	chr8:90508884..90510843-chr8:90512576..90514659,2	K562	blood:
20	chr8:90509802..90512432-chr8:90513213..90514927,2	MCF-7	breast:
21	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
22	chr1:208136517..208137331-chr8:90485310..90486252,2	MCF-7	breast:
23	chr8:90515684..90517302-chr8:90531815..90534034,2	MCF-7	breast:
24	chr15:42762017..42764640-chr8:90562337..90564364,2	MCF-7	breast:
25	chr8:90580330..90583016-chr8:90584267..90585810,2	MCF-7	breast:
26	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
27	chr8:90539182..90543934-chr8:90545577..90548881,5	MCF-7	breast:
28	chr8:90531252..90532820-chr8:90536073..90538212,2	MCF-7	breast:
29	chr8:90476514..90479734-chr8:90482922..90486651,5	MCF-7	breast:
30	chr8:90531640..90533471-chr8:90537181..90540329,3	MCF-7	breast:
31	chr8:90531252..90532820-chr8:90536073..90538212,2	MCF-7	breast:
32	chr1:11967266..11970144-chr8:90594461..90596817,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000199347	chromatin interactions

Extended variants
information (count: 4401 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:4401 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1487672	chr8:90475375-90475376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182737272	chr8:90475448-90475449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556254688	chr8:90475461-90475462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558311839	chr8:90475494-90475495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576648892	chr8:90475501-90475502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375165931	chr8:90475502-90475503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188260093	chr8:90475507-90475508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540692383	chr8:90475520-90475521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553926931	chr8:90475560-90475561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368160559	chr8:90475588-90475589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572397504	chr8:90475601-90475602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540169506	chr8:90475636-90475637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555591595	chr8:90475668-90475669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386727624	chr8:90475676-90475677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34945346	chr8:90475679-90475680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544385185	chr8:90475720-90475721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562654949	chr8:90475728-90475729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371367109	chr8:90475746-90475747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533087758	chr8:90475756-90475757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545082316	chr8:90475784-90475785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13282067	chr8:90475799-90475800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529180733	chr8:90475820-90475821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142207517	chr8:90475923-90475924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549432994	chr8:90475934-90475935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567584732	chr8:90475944-90475945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531870474	chr8:90475965-90475966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377611196	chr8:90475984-90475985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571506026	chr8:90475985-90475986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151204216	chr8:90476000-90476001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550481321	chr8:90476032-90476033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554200965	chr8:90476044-90476045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12549379	chr8:90476045-90476046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536618838	chr8:90476050-90476051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73301901	chr8:90476088-90476089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9642864	chr8:90476122-90476123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140295133	chr8:90476175-90476176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13262692	chr8:90476201-90476202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs551031316	chr8:90476256-90476257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544786174	chr8:90476260-90476261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191003337	chr8:90476274-90476275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183315104	chr8:90476282-90476283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566243150	chr8:90476304-90476305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550513283	chr8:90476372-90476373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187258892	chr8:90476405-90476406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192190417	chr8:90476439-90476440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570439408	chr8:90476546-90476547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111759101	chr8:90476557-90476558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9643174	chr8:90476572-90476573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146457458	chr8:90476603-90476604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184627862	chr8:90476638-90476639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90458400-90482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90477000-90477200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:90477200-90478200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:90478200-90478400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:90478200-90479400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:90478400-90478800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:90478400-90479000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:90478400-90479600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:90478600-90478800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:90478600-90478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:90479000-90479600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:90479000-90481200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:90479200-90479400	Enhancers	Brain Angular Gyrus	brain
14	chr8:90479200-90479600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:90479200-90479600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:90479200-90479800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:90479400-90479600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:90479400-90479800	Active TSS	Brain Substantia Nigra	brain
19	chr8:90479400-90479800	Active TSS	A549	lung
20	chr8:90479400-90481200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:90479600-90482000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:90481200-90482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:90482000-90482400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:90482200-90482600	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:90482200-90482600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:90482400-90482800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:90482600-90489000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:90482800-90483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:90483600-90484000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:90483800-90484200	Enhancers	Gastric	stomach
31	chr8:90484000-90485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:90485000-90486600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:90485200-90487200	Enhancers	HMEC	breast
34	chr8:90485600-90487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:90485600-90489600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:90485800-90486800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:90485800-90486800	Enhancers	NH-A	brain
38	chr8:90485800-90486800	Enhancers	NHEK	skin
39	chr8:90485800-90487000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:90485800-90487000	Enhancers	Hela-S3	cervix
41	chr8:90485800-90487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:90486000-90486600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:90486400-90486600	Enhancers	Fetal Intestine Large	intestine
44	chr8:90486800-90487800	Weak transcription	Fetal Intestine Large	intestine
45	chr8:90487200-90487600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:90487200-90517600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:90487600-90491000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:90487800-90488200	Enhancers	Fetal Intestine Large	intestine
49	chr8:90489000-90491200	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:90489600-90490000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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