Variant report

Variant	nsv522772
Chromosome Location	chr2:55347472-55349726
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:
2	chr2:55347566..55351333-chr2:55355556..55357913,4	K562	blood:
3	chr2:55287127..55289595-chr2:55348601..55351225,2	K562	blood:
4	chr2:55274620..55276240-chr2:55348004..55351084,3	K562	blood:
5	chr2:55347589..55350399-chr2:55353012..55356550,3	K562	blood:
6	chr2:55255186..55258524-chr2:55346221..55348339,3	K562	blood:
7	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
8	chr2:55346562..55348270-chr2:55453778..55456492,2	K562	blood:
9	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
10	chr2:55347650..55349740-chr2:55350733..55352941,2	K562	blood:
11	chr2:55319141..55322072-chr2:55348443..55351423,2	K562	blood:
12	chr2:55348151..55351160-chr2:55366268..55368623,3	K562	blood:
13	chr2:55275026..55277831-chr2:55345996..55347891,2	MCF-7	breast:
14	chr2:55315563..55318504-chr2:55346291..55347986,2	K562	blood:
15	chr2:55339781..55342552-chr2:55346442..55349594,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs894961	chr2:55347472-55347473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545948948	chr2:55347494-55347495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116839737	chr2:55347496-55347497	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573479260	chr2:55347501-55347502	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542192619	chr2:55347525-55347526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562421727	chr2:55347530-55347531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368941823	chr2:55347532-55347533	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79082916	chr2:55347561-55347562	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183293442	chr2:55347613-55347614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533102468	chr2:55347623-55347624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546817230	chr2:55347635-55347636	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569082601	chr2:55347720-55347721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186346405	chr2:55347743-55347744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191200658	chr2:55347756-55347757	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4672018	chr2:55347825-55347826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537000607	chr2:55347876-55347877	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570623422	chr2:55347892-55347893	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556944144	chr2:55347910-55347911	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576917283	chr2:55347916-55347917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539591459	chr2:55347939-55347940	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553517052	chr2:55347987-55347988	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573323095	chr2:55348034-55348035	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182501667	chr2:55348054-55348055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145853983	chr2:55348067-55348068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567957883	chr2:55348097-55348098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544220323	chr2:55348149-55348150	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564119518	chr2:55348188-55348189	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377672009	chr2:55348213-55348214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187857277	chr2:55348230-55348231	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539985702	chr2:55348288-55348289	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558057682	chr2:55348309-55348310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560206131	chr2:55348328-55348329	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529048818	chr2:55348330-55348331	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192584306	chr2:55348338-55348339	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376947484	chr2:55348357-55348358	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569015692	chr2:55348360-55348361	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2972095	chr2:55348392-55348393	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369184813	chr2:55348424-55348425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183107540	chr2:55348449-55348450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187402098	chr2:55348491-55348492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138683790	chr2:55348505-55348506	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553164650	chr2:55348507-55348508	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566960925	chr2:55348545-55348546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535634876	chr2:55348571-55348572	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141135452	chr2:55348573-55348574	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573731756	chr2:55348631-55348632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72795499	chr2:55348647-55348648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs191886350	chr2:55348656-55348657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557775108	chr2:55348711-55348712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577674800	chr2:55348739-55348740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
5	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
6	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:55344600-55348600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
13	chr2:55345600-55348000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:55345600-55348000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:55345600-55348200	Enhancers	Primary B cells from cord blood	blood
16	chr2:55345600-55348200	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:55345600-55348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:55345600-55350200	Enhancers	Brain Germinal Matrix	brain
19	chr2:55345600-55350200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:55345600-55350400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:55345800-55347600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:55345800-55347600	Enhancers	Osteobl	bone
23	chr2:55345800-55348400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:55345800-55348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:55345800-55348400	Enhancers	Fetal Thymus	thymus
26	chr2:55345800-55348600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:55345800-55348600	Enhancers	Adipose Nuclei	Adipose
28	chr2:55345800-55348800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:55345800-55348800	Enhancers	NHDF-Ad	bronchial
30	chr2:55345800-55349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:55346000-55347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:55346000-55347800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:55346000-55347800	Enhancers	Spleen	Spleen
34	chr2:55346000-55348200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:55346000-55351600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:55346200-55350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:55346400-55347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:55346400-55348600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:55346400-55349600	Weak transcription	HUVEC	blood vessel
40	chr2:55346600-55347600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:55346600-55348000	Enhancers	GM12878-XiMat	blood
42	chr2:55346600-55348600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:55346600-55350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:55346800-55347800	Enhancers	Right Atrium	heart
45	chr2:55346800-55348000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:55346800-55348000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr2:55346800-55348000	Enhancers	Colon Smooth Muscle	Colon
48	chr2:55346800-55348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:55346800-55348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:55346800-55348400	Enhancers	Duodenum Smooth Muscle	Duodenum

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