Variant report

Variant	nsv820167
Chromosome Location	chr2:152668844-152673816
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152634127..152636194-chr2:152671394..152673328,2	K562	blood:
2	chr2:152671480..152673477-chr2:152674012..152675938,2	K562	blood:
3	chr2:152670087..152672133-chr2:152680755..152682806,2	MCF-7	breast:
4	chr2:152667156..152669277-chr2:152683562..152686804,3	K562	blood:
5	chr2:152667501..152670036-chr2:152673643..152675792,3	K562	blood:
6	chr2:152640166..152642990-chr2:152671460..152673165,2	K562	blood:
7	chr2:152668478..152670762-chr2:152674292..152676258,2	K562	blood:
8	chr2:152662842..152666419-chr2:152667793..152671423,3	K562	blood:
9	chr2:152666269..152668402-chr2:152669903..152671497,2	MCF-7	breast:
10	chr2:152667073..152668792-chr2:152670517..152672441,2	K562	blood:
11	chr2:152667501..152670036-chr2:152673643..152675792,3	K562	blood:
12	chr2:152667156..152671045-chr2:152683562..152687272,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162980	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540461084	chr2:152668856-152668857	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143420605	chr2:152668872-152668873	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201148768	chr2:152668877-152668878	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141663338	chr2:152668878-152668879	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532438026	chr2:152668887-152668888	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200412626	chr2:152668992-152668993	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140774052	chr2:152669025-152669026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190949041	chr2:152669062-152669063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181068451	chr2:152669063-152669064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371386094	chr2:152669076-152669077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112757227	chr2:152669116-152669117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186511618	chr2:152669126-152669127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533011589	chr2:152669141-152669142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143037153	chr2:152669193-152669194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575123700	chr2:152669215-152669216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72866497	chr2:152669218-152669219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2030589	chr2:152669227-152669228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550468173	chr2:152669243-152669244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113804293	chr2:152669250-152669251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2030590	chr2:152669303-152669304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555787790	chr2:152669337-152669338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550447227	chr2:152669427-152669428	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140605642	chr2:152669465-152669466	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73970710	chr2:152669489-152669490	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553940731	chr2:152669539-152669540	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182870761	chr2:152669587-152669588	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545828824	chr2:152669588-152669589	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546097976	chr2:152669608-152669609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150455551	chr2:152669611-152669612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187597087	chr2:152669687-152669688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138506183	chr2:152669697-152669698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190887780	chr2:152669731-152669732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527392289	chr2:152669745-152669746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547143584	chr2:152669836-152669837	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114304112	chr2:152669872-152669873	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533390315	chr2:152669931-152669932	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183309881	chr2:152669941-152669942	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188875117	chr2:152669981-152669982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536152033	chr2:152670003-152670004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549400244	chr2:152670068-152670069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565893292	chr2:152670123-152670124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537281504	chr2:152670132-152670133	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111380695	chr2:152670141-152670142	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558801173	chr2:152670142-152670143	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557941371	chr2:152670235-152670236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578027862	chr2:152670237-152670238	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192707673	chr2:152670299-152670300	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555940295	chr2:152670386-152670387	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575937286	chr2:152670402-152670403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184510765	chr2:152670572-152670573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
epilepsy	18472482	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152617000-152669400	Weak transcription	Gastric	stomach
2	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
4	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
7	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
8	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
9	chr2:152642200-152670400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:152654200-152683400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:152654400-152678000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:152654400-152679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:152655400-152671400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:152655400-152675200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:152656600-152671600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:152656600-152672400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:152656800-152672400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:152657000-152672400	Strong transcription	Placenta	Placenta
22	chr2:152657000-152674800	Weak transcription	Esophagus	oesophagus
23	chr2:152657400-152672800	Strong transcription	Dnd41	blood
24	chr2:152658000-152681600	Weak transcription	Stomach Mucosa	stomach
25	chr2:152658400-152669200	Weak transcription	Hela-S3	cervix
26	chr2:152659000-152671800	Strong transcription	K562	blood
27	chr2:152659000-152675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:152659400-152683000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:152660200-152672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:152660200-152675200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:152661400-152683000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:152662200-152681000	Weak transcription	Colonic Mucosa	Colon
33	chr2:152662800-152683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:152663200-152669800	Weak transcription	HMEC	breast
35	chr2:152663200-152674400	Weak transcription	Psoas Muscle	Psoas
36	chr2:152663200-152680000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:152663400-152682200	Weak transcription	HSMMtube	muscle
38	chr2:152663400-152683000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:152664200-152672000	Weak transcription	NHEK	skin
40	chr2:152664600-152679400	Weak transcription	Osteobl	bone
41	chr2:152665000-152673000	Weak transcription	Fetal Heart	heart
42	chr2:152665200-152669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:152665400-152669200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:152665400-152672600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:152665600-152672400	Weak transcription	Left Ventricle	heart
46	chr2:152665600-152672400	Weak transcription	Pancreas	Pancrea
47	chr2:152665600-152673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:152665600-152674800	Weak transcription	Right Atrium	heart
49	chr2:152665600-152679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:152665800-152669400	Weak transcription	Brain Cingulate Gyrus	brain

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