Variant report

Variant	nsv823125
Chromosome Location	chr5:89810179-89810827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89768668..89770886-chr5:89808877..89811460,3	MCF-7	breast:
2	chr5:89795388..89799823-chr5:89809630..89813266,4	K562	blood:

Variant related genes	Relation type
ENSG00000113356	chromatin interactions
ENSG00000176055	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532822770	chr5:89810185-89810186	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62375060	chr5:89810208-89810209	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187983689	chr5:89810220-89810221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35796742	chr5:89810264-89810265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201854972	chr5:89810267-89810268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13169686	chr5:89810287-89810288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369088844	chr5:89810298-89810299	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs180804782	chr5:89810413-89810414	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372903774	chr5:89810419-89810420	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142625639	chr5:89810449-89810450	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529679196	chr5:89810498-89810499	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562219228	chr5:89810516-89810517	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549715984	chr5:89810525-89810526	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs199827009	chr5:89810572-89810573	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs72288236	chr5:89810573-89810574	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3223439	chr5:89810574-89810575	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547789541	chr5:89810575-89810576	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs57957436	chr5:89810594-89810595	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569886435	chr5:89810618-89810619	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10639309	chr5:89810661-89810662	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs33987633	chr5:89810662-89810663	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs72543599	chr5:89810663-89810664	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs397942260	chr5:89810664-89810665	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538906128	chr5:89810704-89810705	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558838797	chr5:89810748-89810749	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565874473	chr5:89810795-89810796	Weak transcription ZNF genes & repeats Strong transcription Genic 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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89771600-89814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:89773800-89816000	Weak transcription	HepG2	liver
3	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:89774000-89814600	Weak transcription	Dnd41	blood
5	chr5:89774400-89814600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:89780400-89810800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:89783800-89813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:89784800-89814600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:89785400-89814600	Weak transcription	NHLF	lung
11	chr5:89791400-89814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:89791600-89813800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:89791600-89814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:89792200-89810400	Weak transcription	Left Ventricle	heart
15	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
16	chr5:89797600-89814600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:89797600-89824200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:89798000-89814600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:89799600-89817200	Weak transcription	NHDF-Ad	bronchial
20	chr5:89799800-89814600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:89800000-89814400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:89800000-89814600	Weak transcription	NHEK	skin
23	chr5:89800800-89811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:89800800-89814600	Weak transcription	HMEC	breast
25	chr5:89801000-89813600	Weak transcription	NH-A	brain
26	chr5:89801000-89814600	Weak transcription	HUVEC	blood vessel
27	chr5:89802600-89824600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:89803200-89810400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:89803200-89817600	Weak transcription	Small Intestine	intestine
30	chr5:89804000-89813400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:89804000-89816400	Weak transcription	Thymus	Thymus
32	chr5:89804800-89814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:89805600-89812200	Weak transcription	HSMM	muscle
34	chr5:89805600-89819800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:89805600-89823200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:89805800-89819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:89806000-89814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:89806400-89818200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:89807000-89810400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:89807800-89810400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:89807800-89812200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:89808000-89814000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:89808200-89814400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:89808400-89810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:89808600-89814400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:89808600-89814600	Weak transcription	Osteobl	bone
47	chr5:89808800-89810400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:89808800-89810400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:89808800-89814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:89808800-89814600	Weak transcription	Fetal Muscle Leg	muscle

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