Variant report

Variant	nsv1006769
Chromosome Location	chr2:57369025-57471354
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
2	chr2:56410837..56411593-chr2:57429009..57429668,2	MCF-7	breast:
3	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
4	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
5	chr2:56409694..56412486-chr2:57365790..57369711,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-4	chr2:57425380-57425788	ENSG00000255922
2	lnc-VRK2-4	chr2:57419954-57420014	ENSG00000255922
3	lnc-VRK2-4	chr2:57422543-57422644	ENSG00000255922

No data

Variant related genes	Relation type
ENSG00000233251	chromatin interactions
ENSG00000055813	chromatin interactions

Extended variants
information (count: 2200 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538867388	chr2:57369034-57369035	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188480377	chr2:57369042-57369043	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572467251	chr2:57369048-57369049	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540991451	chr2:57369065-57369066	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116776350	chr2:57369097-57369098	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369230602	chr2:57369132-57369133	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181425761	chr2:57369139-57369140	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572441643	chr2:57369184-57369185	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34325307	chr2:57369211-57369212	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6711912	chr2:57369222-57369223	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563447916	chr2:57369248-57369249	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532289206	chr2:57369272-57369273	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560042143	chr2:57369279-57369280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs202142869	chr2:57369308-57369309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545704283	chr2:57369341-57369342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559365792	chr2:57369361-57369362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528180737	chr2:57369371-57369372	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184495012	chr2:57369376-57369377	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545741671	chr2:57369394-57369395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370189308	chr2:57369422-57369423	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568060329	chr2:57369444-57369445	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs57930911	chr2:57369449-57369450	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142231550	chr2:57369517-57369518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530560714	chr2:57369528-57369529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145625437	chr2:57369529-57369530	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs58703849	chr2:57369536-57369537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142509554	chr2:57369552-57369553	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570255032	chr2:57369587-57369588	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150497018	chr2:57369594-57369595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115766380	chr2:57369596-57369597	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565965301	chr2:57369620-57369621	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs17048692	chr2:57369622-57369623	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs202046525	chr2:57369639-57369640	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554688674	chr2:57369660-57369661	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565195627	chr2:57369698-57369699	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs9808152	chr2:57369817-57369818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs139975875	chr2:57369826-57369827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143447480	chr2:57369829-57369830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577080629	chr2:57369830-57369831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10168336	chr2:57369833-57369834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1424647	chr2:57369920-57369921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs17048693	chr2:57369933-57369934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541935917	chr2:57369934-57369935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561774539	chr2:57369982-57369983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189202070	chr2:57370005-57370006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541771635	chr2:57370024-57370025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1424648	chr2:57370068-57370069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs531922440	chr2:57370069-57370070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370316012	chr2:57370075-57370076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182071937	chr2:57370104-57370105	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57367800-57369200	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:57398400-57398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:57399000-57401600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:57402800-57403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:57405600-57406800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:57406000-57406800	Enhancers	HUVEC	blood vessel
23	chr2:57406600-57407600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:57406600-57410000	Enhancers	HMEC	breast
25	chr2:57406600-57410200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:57406600-57410400	Enhancers	NHEK	skin
27	chr2:57406600-57410800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:57406800-57407200	Enhancers	NHDF-Ad	bronchial
29	chr2:57406800-57407400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:57406800-57407400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:57406800-57407600	Enhancers	HSMMtube	muscle
32	chr2:57406800-57407600	Flanking Active TSS	HUVEC	blood vessel
33	chr2:57406800-57407800	Enhancers	NH-A	brain
34	chr2:57406800-57411400	Enhancers	HSMM	muscle
35	chr2:57407000-57409000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:57407200-57409800	Weak transcription	NHDF-Ad	bronchial
37	chr2:57407400-57408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:57407400-57408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:57407400-57409400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:57407600-57408600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:57407600-57409800	Weak transcription	HSMMtube	muscle
42	chr2:57407600-57410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:57407600-57410600	Enhancers	HUVEC	blood vessel
44	chr2:57407800-57408400	Weak transcription	NH-A	brain
45	chr2:57408000-57408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:57408200-57409000	Enhancers	Fetal Heart	heart
47	chr2:57408400-57409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:57408400-57410000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:57408400-57410000	Enhancers	NH-A	brain
50	chr2:57408400-57410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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