Variant report

Variant	nsv524437
Chromosome Location	chr2:55615366-55619923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55617017..55619738-chr2:55645047..55647887,2	K562	blood:
2	chr2:55615003..55618126-chr2:55622970..55626824,3	K562	blood:
3	chr2:55618745..55621738-chr2:55622062..55625126,3	K562	blood:
4	chr2:55418148..55421092-chr2:55618955..55620570,2	K562	blood:
5	chr2:55618238..55620708-chr2:55645047..55647010,2	K562	blood:
6	chr2:55617949..55620712-chr2:55634436..55637353,2	K562	blood:

Variant related genes	Relation type
ENSG00000115355	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7600669	chr2:55615366-55615367	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377444299	chr2:55615374-55615375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576022346	chr2:55615375-55615376	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188017116	chr2:55615409-55615410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72799563	chr2:55615432-55615433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142624582	chr2:55615475-55615476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541584966	chr2:55615485-55615486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561583244	chr2:55615501-55615502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530450332	chr2:55615543-55615544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7574743	chr2:55615554-55615555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368526327	chr2:55615576-55615577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552524627	chr2:55615585-55615586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78653600	chr2:55615586-55615587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532125979	chr2:55615591-55615592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs63465160	chr2:55615593-55615594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192906977	chr2:55615612-55615613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565722081	chr2:55615658-55615659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3762510	chr2:55615733-55615734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs184466474	chr2:55615734-55615735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187808622	chr2:55615772-55615773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143351311	chr2:55615797-55615798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35011763	chr2:55615798-55615799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550448389	chr2:55615802-55615803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569722155	chr2:55615806-55615807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191150906	chr2:55615823-55615824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541591936	chr2:55615829-55615830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558803420	chr2:55615849-55615850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572467778	chr2:55615851-55615852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199552903	chr2:55615888-55615889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147639776	chr2:55615950-55615951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575082712	chr2:55615973-55615974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189153759	chr2:55616043-55616044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375138562	chr2:55616056-55616057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530822391	chr2:55616118-55616119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35975900	chr2:55616162-55616163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576766942	chr2:55616187-55616188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529090057	chr2:55616188-55616189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371265103	chr2:55616202-55616203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559201913	chr2:55616208-55616209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35126375	chr2:55616258-55616259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567880852	chr2:55616279-55616280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34870149	chr2:55616287-55616288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35676457	chr2:55616324-55616325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547860966	chr2:55616415-55616416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1545554	chr2:55616425-55616426	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs148344436	chr2:55616463-55616464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141685601	chr2:55616594-55616595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28498550	chr2:55616597-55616598	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150103001	chr2:55616613-55616614	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78591890	chr2:55616621-55616622	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Ependymoma	20639864	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
5	chr2:55579400-55622400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:55579600-55632200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:55582000-55632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
10	chr2:55589600-55628800	Weak transcription	Fetal Thymus	thymus
11	chr2:55589600-55632200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:55590400-55622400	Weak transcription	GM12878-XiMat	blood
13	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:55592000-55635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:55592200-55617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:55592200-55631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:55592800-55615600	Weak transcription	NHEK	skin
18	chr2:55592800-55617800	Weak transcription	A549	lung
19	chr2:55592800-55626600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:55592800-55635600	Weak transcription	HSMMtube	muscle
21	chr2:55593000-55622400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:55593000-55622400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:55593200-55632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:55593400-55616400	Weak transcription	HUVEC	blood vessel
25	chr2:55593800-55631800	Weak transcription	Brain Germinal Matrix	brain
26	chr2:55598200-55616200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:55599200-55626800	Weak transcription	Osteobl	bone
28	chr2:55600000-55617600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:55600600-55616200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:55600600-55617400	Weak transcription	K562	blood
31	chr2:55600600-55617800	Weak transcription	Fetal Lung	lung
32	chr2:55600600-55631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:55600800-55629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55600800-55629400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:55601800-55631000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:55602000-55618600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:55602000-55629600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:55602200-55615600	Weak transcription	Hela-S3	cervix
40	chr2:55602200-55629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:55602400-55617200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:55602400-55629600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:55603600-55629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:55603600-55630200	Weak transcription	NH-A	brain
45	chr2:55605800-55617800	Weak transcription	HepG2	liver
46	chr2:55606200-55630400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:55607000-55615800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:55607400-55617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:55608600-55630400	Weak transcription	HSMM	muscle
50	chr2:55609000-55618800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links