Variant report

Variant	nsv961530
Chromosome Location	chr2:172302588-172303734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172302248..172305300-chr2:172308387..172310515,4	K562	blood:
2	chr2:172296199..172299351-chr2:172302148..172304062,3	K562	blood:
3	chr2:172302577..172305369-chr2:172330311..172333042,2	K562	blood:
4	chr2:172277942..172280188-chr2:172302805..172305660,3	K562	blood:

Variant related genes	Relation type
ENSG00000115827	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573442682	chr2:172302589-172302590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559634416	chr2:172302602-172302603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557497811	chr2:172302617-172302618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575673492	chr2:172302653-172302654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181730322	chr2:172302693-172302694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554974149	chr2:172302765-172302766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148918960	chr2:172302766-172302767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112686269	chr2:172302779-172302780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185544070	chr2:172302796-172302797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376416867	chr2:172302828-172302829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565134241	chr2:172302829-172302830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577033676	chr2:172302839-172302840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544669884	chr2:172302846-172302847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563067231	chr2:172302881-172302882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530659365	chr2:172302926-172302927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542245455	chr2:172302970-172302971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562446314	chr2:172302971-172302972	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190753413	chr2:172303011-172303012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528375128	chr2:172303038-172303039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546917416	chr2:172303044-172303045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571424135	chr2:172303045-172303046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550704035	chr2:172303065-172303066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532361047	chr2:172303071-172303072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114530159	chr2:172303083-172303084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569350621	chr2:172303184-172303185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536785773	chr2:172303213-172303214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180809674	chr2:172303215-172303216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117406597	chr2:172303277-172303278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534185775	chr2:172303292-172303293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186154026	chr2:172303345-172303346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530410030	chr2:172303351-172303352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34153130	chr2:172303399-172303400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142873393	chr2:172303437-172303438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146569710	chr2:172303450-172303451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs58367130	chr2:172303456-172303457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144812292	chr2:172303461-172303462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374429249	chr2:172303472-172303473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10445722	chr2:172303483-172303484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs528096266	chr2:172303490-172303491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190005769	chr2:172303518-172303519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565197695	chr2:172303539-172303540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10445762	chr2:172303555-172303556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs111259008	chr2:172303563-172303564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550778606	chr2:172303579-172303580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140452570	chr2:172303637-172303638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566724506	chr2:172303676-172303677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372569766	chr2:172303688-172303689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114671516	chr2:172303700-172303701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150373361	chr2:172303705-172303706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181220862	chr2:172303709-172303710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
3	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
5	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
6	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172292600-172302600	Strong transcription	Liver	Liver
11	chr2:172292600-172302800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:172292800-172302600	Strong transcription	Fetal Thymus	thymus
18	chr2:172292800-172303000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:172293000-172302600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:172293400-172302600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:172293400-172302600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:172294000-172302800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:172294000-172304200	Weak transcription	Fetal Lung	lung
28	chr2:172294200-172304200	Weak transcription	Fetal Kidney	kidney
29	chr2:172295000-172309600	Strong transcription	HepG2	liver
30	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:172296000-172304400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:172296800-172304200	Weak transcription	NH-A	brain
34	chr2:172297000-172313000	Weak transcription	A549	lung
35	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:172298000-172303800	Weak transcription	Right Ventricle	heart
37	chr2:172298200-172303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:172298200-172303800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:172298200-172303800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:172298200-172304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:172298200-172304000	Weak transcription	Esophagus	oesophagus
42	chr2:172298200-172304000	Weak transcription	Ovary	ovary
43	chr2:172298200-172304200	Weak transcription	Lung	lung
44	chr2:172298200-172304200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:172298200-172310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
48	chr2:172298400-172304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:172298400-172304000	Weak transcription	Brain Angular Gyrus	brain
50	chr2:172298400-172304000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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