Variant report

Variant	nsv963914
Chromosome Location	chr2:54021710-54028552
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54014625..54016800-chr2:54021508..54023990,3	K562	blood:
2	chr2:54019493..54021003-chr2:54021744..54023776,2	K562	blood:
3	chr2:54016706..54018881-chr2:54023439..54026014,2	K562	blood:
4	chr2:54012138..54014028-chr2:54027548..54031166,3	K562	blood:
5	chr2:53994110..53996548-chr2:54024126..54025670,2	K562	blood:
6	chr2:54019955..54022961-chr2:54036087..54038626,3	MCF-7	breast:
7	chr2:53994233..53996244-chr2:54022676..54024551,2	K562	blood:
8	chr2:54018818..54021003-chr2:54021378..54023244,2	K562	blood:
9	chr2:54013384..54018041-chr2:54019563..54022732,5	K562	blood:
10	chr2:54025483..54027940-chr2:54030196..54032461,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143942	chromatin interactions
ENSG00000068912	chromatin interactions
ENSG00000115239	chromatin interactions

Extended variants
information (count: 293 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186407714	chr2:54021716-54021717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537007490	chr2:54021779-54021780	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557099649	chr2:54021792-54021793	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572885050	chr2:54021821-54021822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191211760	chr2:54021831-54021832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545577545	chr2:54021839-54021840	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371739166	chr2:54021855-54021856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183375859	chr2:54021869-54021870	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573340695	chr2:54021877-54021878	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542145135	chr2:54021885-54021886	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62137615	chr2:54021914-54021915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187387843	chr2:54021939-54021940	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs75020010	chr2:54021941-54021942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544162412	chr2:54021987-54021988	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564246172	chr2:54022082-54022083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191651969	chr2:54022106-54022107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10711696	chr2:54022171-54022172	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397705813	chr2:54022172-54022173	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200071568	chr2:54022173-54022174	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546771337	chr2:54022187-54022188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544462080	chr2:54022218-54022219	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183162273	chr2:54022247-54022248	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2542590	chr2:54022268-54022269	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs548516576	chr2:54022317-54022318	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568318624	chr2:54022331-54022332	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7568771	chr2:54022376-54022377	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs562698781	chr2:54022385-54022386	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533407269	chr2:54022428-54022429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188092669	chr2:54022432-54022433	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530054124	chr2:54022449-54022450	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192675807	chr2:54022457-54022458	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552772253	chr2:54022459-54022460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs183770654	chr2:54022487-54022488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541985935	chr2:54022512-54022513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140339624	chr2:54022560-54022561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374354118	chr2:54022582-54022583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148957941	chr2:54022583-54022584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369717795	chr2:54022597-54022598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111456631	chr2:54022602-54022603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187755114	chr2:54022646-54022647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563365187	chr2:54022649-54022650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147058130	chr2:54022698-54022699	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564548033	chr2:54022714-54022715	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs200697275	chr2:54022738-54022739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533159167	chr2:54022762-54022763	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540741160	chr2:54022782-54022783	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2692512	chr2:54022832-54022833	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34138650	chr2:54022879-54022880	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528302767	chr2:54022921-54022922	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548354744	chr2:54022969-54022970	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54015200-54024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54015200-54025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:54015200-54029800	Weak transcription	Esophagus	oesophagus
4	chr2:54015200-54038200	Weak transcription	Small Intestine	intestine
5	chr2:54015200-54046200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:54015200-54046200	Weak transcription	Aorta	Aorta
7	chr2:54015200-54051600	Weak transcription	Stomach Mucosa	stomach
8	chr2:54015200-54053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54015600-54022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:54015600-54022200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:54015600-54022200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:54015600-54022200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:54015600-54022200	Weak transcription	Fetal Kidney	kidney
14	chr2:54015600-54022800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:54015600-54029600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:54015600-54035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:54015600-54035800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:54015600-54054600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:54015800-54022000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:54015800-54022000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:54015800-54022000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:54015800-54022000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:54015800-54022000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:54015800-54022000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:54015800-54022000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:54015800-54022000	Weak transcription	NH-A	brain
27	chr2:54015800-54022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:54015800-54022200	Weak transcription	Primary T cells from cord blood	blood
29	chr2:54015800-54022200	Weak transcription	Fetal Intestine Large	intestine
30	chr2:54015800-54022200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:54015800-54022200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:54015800-54022200	Weak transcription	Thymus	Thymus
33	chr2:54015800-54022200	Weak transcription	K562	blood
34	chr2:54015800-54022200	Weak transcription	NHEK	skin
35	chr2:54015800-54022400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:54015800-54022400	Weak transcription	Primary B cells from cord blood	blood
37	chr2:54015800-54022600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:54015800-54022800	Weak transcription	Fetal Brain Female	brain
39	chr2:54015800-54023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:54015800-54023600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:54015800-54023600	Weak transcription	HSMMtube	muscle
42	chr2:54015800-54024400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:54015800-54024800	Weak transcription	HUVEC	blood vessel
44	chr2:54015800-54025000	Weak transcription	Right Ventricle	heart
45	chr2:54015800-54025200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:54015800-54026000	Weak transcription	Fetal Brain Male	brain
47	chr2:54015800-54028600	Weak transcription	HMEC	breast
48	chr2:54015800-54029400	Weak transcription	Brain Substantia Nigra	brain
49	chr2:54015800-54029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:54015800-54029800	Weak transcription	Psoas Muscle	Psoas

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