Variant report

Variant	nsv525086
Chromosome Location	chr2:54432222-54459211
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	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
2	chr2:54442747..54444548-chr2:54447776..54450231,2	K562	blood:
3	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
4	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
5	chr2:54448522..54450800-chr2:54452364..54454802,2	K562	blood:
6	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
7	chr2:54457083..54460035-chr2:54464183..54466106,2	K562	blood:
8	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
9	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
10	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
11	chr2:54442747..54444548-chr2:54447776..54450231,2	K562	blood:
12	chr2:54448522..54450800-chr2:54452364..54454802,2	K562	blood:

No data

Extended variants
information (count: 1034 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912428	chr2:54432222-54432223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537466661	chr2:54432223-54432224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186508322	chr2:54432234-54432235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143717005	chr2:54432239-54432240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145678649	chr2:54432240-54432241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554061064	chr2:54432338-54432339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574329500	chr2:54432367-54432368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375647343	chr2:54432493-54432494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533274176	chr2:54432494-54432495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1215144	chr2:54432523-54432524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1215145	chr2:54432558-54432559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190851462	chr2:54432566-54432567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545439800	chr2:54432607-54432608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113325309	chr2:54432608-54432609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10172490	chr2:54432616-54432617	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183717876	chr2:54432657-54432658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74535053	chr2:54432658-54432659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34344329	chr2:54432679-54432680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62139187	chr2:54432681-54432682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564103296	chr2:54432684-54432685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186935608	chr2:54432820-54432821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577555790	chr2:54432855-54432856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10172580	chr2:54432868-54432869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10172581	chr2:54432873-54432874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531164665	chr2:54432915-54432916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116680195	chr2:54432930-54432931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151128251	chr2:54433033-54433034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542930519	chr2:54433056-54433057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10185189	chr2:54433057-54433058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141030903	chr2:54433058-54433059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560405951	chr2:54433090-54433091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529142785	chr2:54433095-54433096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567841703	chr2:54433115-54433116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536850069	chr2:54433120-54433121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556666920	chr2:54433186-54433187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570166059	chr2:54433197-54433198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538981346	chr2:54433211-54433212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139262147	chr2:54433242-54433243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191822096	chr2:54433248-54433249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377766648	chr2:54433257-54433258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540141274	chr2:54433266-54433267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143495070	chr2:54433292-54433293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371232298	chr2:54433299-54433300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1215146	chr2:54433327-54433328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78350575	chr2:54433341-54433342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138360311	chr2:54433342-54433343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531298380	chr2:54433373-54433374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183115578	chr2:54433378-54433379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564702094	chr2:54433380-54433381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527313723	chr2:54433420-54433421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54380600-54434400	Weak transcription	Ovary	ovary
2	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
3	chr2:54388400-54435000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:54404200-54433600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:54412600-54435000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:54414200-54434600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54415200-54432400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:54415200-54434200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:54415200-54434400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:54415200-54434600	Weak transcription	HSMMtube	muscle
11	chr2:54415400-54434400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:54416200-54451400	Weak transcription	Left Ventricle	heart
13	chr2:54423800-54434400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:54427600-54434400	Weak transcription	NHLF	lung
15	chr2:54431400-54435200	Enhancers	HepG2	liver
16	chr2:54431800-54432600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:54431800-54432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:54432000-54433800	Enhancers	Fetal Lung	lung
19	chr2:54432000-54434200	Weak transcription	Adipose Nuclei	Adipose
20	chr2:54432000-54434600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:54432200-54432800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:54432200-54434200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:54432600-54434400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:54433600-54433800	Enhancers	Brain Hippocampus Middle	brain
25	chr2:54433600-54436200	Enhancers	Brain Anterior Caudate	brain
26	chr2:54433800-54434600	Weak transcription	Fetal Lung	lung
27	chr2:54433800-54434800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:54434000-54434800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:54434000-54435200	Enhancers	Fetal Heart	heart
30	chr2:54434000-54436200	Enhancers	HUVEC	blood vessel
31	chr2:54434000-54436400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:54434000-54437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54434000-54437000	Enhancers	Osteobl	bone
34	chr2:54434200-54434400	Enhancers	Primary T cells from cord blood	blood
35	chr2:54434200-54434400	Enhancers	Right Atrium	heart
36	chr2:54434200-54437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:54434200-54437000	Enhancers	Adipose Nuclei	Adipose
38	chr2:54434400-54435000	Weak transcription	Right Atrium	heart
39	chr2:54434400-54435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:54434400-54435200	Enhancers	Ovary	ovary
41	chr2:54434400-54435200	Enhancers	NHEK	skin
42	chr2:54434400-54435400	Enhancers	Brain Substantia Nigra	brain
43	chr2:54434400-54435800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:54434400-54436000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:54434400-54436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:54434400-54436800	Enhancers	HSMM	muscle
47	chr2:54434400-54437000	Enhancers	Fetal Kidney	kidney
48	chr2:54434400-54437000	Enhancers	NHLF	lung
49	chr2:54434400-54437800	Enhancers	NHDF-Ad	bronchial
50	chr2:54434600-54435200	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links