Variant report

Variant	nsv823107
Chromosome Location	chr5:79959150-79959735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79958590..79961048-chr5:80005503..80007376,2	K562	blood:
2	chr5:79950067..79952417-chr5:79958282..79961440,3	K562	blood:
3	chr5:79956607..79959193-chr5:79962502..79964568,2	MCF-7	breast:
4	chr5:79955227..79957557-chr5:79958269..79961071,2	K562	blood:

Variant related genes	Relation type
ENSG00000113318	chromatin interactions
ENSG00000228716	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77592954	chr5:79959157-79959158	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536949478	chr5:79959172-79959173	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562361496	chr5:79959197-79959198	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115467725	chr5:79959224-79959225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149980765	chr5:79959244-79959245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114495151	chr5:79959246-79959247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1650677	chr5:79959253-79959254	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs76012334	chr5:79959320-79959321	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs56334575	chr5:79959368-79959369	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397764797	chr5:79959369-79959370	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536284996	chr5:79959370-79959371	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547079969	chr5:79959371-79959372	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570399377	chr5:79959374-79959375	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181125478	chr5:79959379-79959380	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549886157	chr5:79959397-79959398	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1650676	chr5:79959398-79959399	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs538436338	chr5:79959439-79959440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572896732	chr5:79959475-79959476	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555281363	chr5:79959507-79959508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1650675	chr5:79959524-79959525	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144309880	chr5:79959582-79959583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553902924	chr5:79959599-79959600	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs35756839	chr5:79959600-79959601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs397935685	chr5:79959608-79959609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1650674	chr5:79959683-79959684	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs71594670	chr5:79959733-79959734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199796013	chr5:79959734-79959735	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951200-79963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:79951400-79963200	Weak transcription	Right Ventricle	heart
3	chr5:79951600-79962600	Weak transcription	Esophagus	oesophagus
4	chr5:79951600-79963200	Weak transcription	Pancreas	Pancrea
5	chr5:79951600-79963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:79951600-79963400	Weak transcription	Brain Germinal Matrix	brain
7	chr5:79951600-79963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
9	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
11	chr5:79951800-79960200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:79951800-79964000	Weak transcription	Brain Substantia Nigra	brain
13	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:79952000-79959800	Weak transcription	HMEC	breast
15	chr5:79952000-79963800	Weak transcription	Fetal Heart	heart
16	chr5:79952200-79964200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:79952200-79964200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:79952200-79964200	Weak transcription	NHLF	lung
19	chr5:79952200-79975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:79952400-79959800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:79952400-79963200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:79952400-79963400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:79952400-79965000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:79952400-79967400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:79952400-79975400	Weak transcription	HSMMtube	muscle
26	chr5:79952400-79976600	Strong transcription	Fetal Thymus	thymus
27	chr5:79952400-79976800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:79952400-79983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:79952600-79959400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:79952600-79960600	Weak transcription	Hela-S3	cervix
31	chr5:79952600-79962200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:79952600-79963000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:79952600-79963200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:79952600-79963800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:79952600-79965000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:79952800-79959800	Weak transcription	HepG2	liver
39	chr5:79952800-79972200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:79953000-79959200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:79953000-79966400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:79953200-79959200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:79953200-79963400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:79953200-79963800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:79953200-79964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:79953200-79964200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:79953200-79965200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:79953200-79980800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr5:79953600-79964200	Strong transcription	Dnd41	blood
50	chr5:79953800-79969800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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