Variant report

Variant	nsv961316
Chromosome Location	chr2:54409849-54427030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:
2	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
3	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
4	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:

Variant related genes	Relation type
ENSG00000170634	chromatin interactions

Extended variants
information (count: 730 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs843677	chr2:54409855-54409856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182666021	chr2:54409884-54409885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs866389	chr2:54409893-54409894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560442649	chr2:54409901-54409902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538043811	chr2:54409921-54409922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527602418	chr2:54409923-54409924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569200599	chr2:54409961-54409962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543274927	chr2:54409972-54409973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369061412	chr2:54409981-54409982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57045403	chr2:54410004-54410005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138503557	chr2:54410026-54410027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556504681	chr2:54410047-54410048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78533223	chr2:54410059-54410060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78491217	chr2:54410067-54410068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs843676	chr2:54410101-54410102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140240764	chr2:54410133-54410134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188858244	chr2:54410177-54410178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1727522	chr2:54410178-54410179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs554744100	chr2:54410205-54410206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376822063	chr2:54410209-54410210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545165030	chr2:54410216-54410217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565349331	chr2:54410236-54410237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564167138	chr2:54410242-54410243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533010706	chr2:54410258-54410259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547562805	chr2:54410307-54410308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567779167	chr2:54410321-54410322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145553680	chr2:54410324-54410325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190845602	chr2:54410333-54410334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183065393	chr2:54410334-54410335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371044200	chr2:54410355-54410356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187643502	chr2:54410390-54410391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557886679	chr2:54410400-54410401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571352638	chr2:54410407-54410408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192133125	chr2:54410434-54410435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553571806	chr2:54410503-54410504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573708862	chr2:54410548-54410549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542191722	chr2:54410565-54410566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148073322	chr2:54410580-54410581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560067581	chr2:54410592-54410593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576290398	chr2:54410608-54410609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370021936	chr2:54410662-54410663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184881147	chr2:54410663-54410664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79324794	chr2:54410668-54410669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77133207	chr2:54410669-54410670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565610545	chr2:54410723-54410724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527863594	chr2:54410726-54410727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34857873	chr2:54410755-54410756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563978406	chr2:54410803-54410804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541636061	chr2:54410828-54410829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188192435	chr2:54410839-54410840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:54362000-54416400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:54362200-54411200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:54367400-54416600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:54369600-54416600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:54380600-54429200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:54380600-54434400	Weak transcription	Ovary	ovary
8	chr2:54382800-54414600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:54385800-54415800	Weak transcription	Left Ventricle	heart
10	chr2:54387800-54414200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
12	chr2:54388400-54424600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:54388400-54435000	Weak transcription	Brain Angular Gyrus	brain
14	chr2:54388600-54414400	Weak transcription	HSMMtube	muscle
15	chr2:54388600-54416600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:54389800-54420000	Weak transcription	Fetal Stomach	stomach
17	chr2:54390200-54414400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:54394000-54414200	Weak transcription	Liver	Liver
19	chr2:54394000-54414600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:54394600-54414200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54404200-54433600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:54404600-54414400	Weak transcription	Primary B cells from cord blood	blood
23	chr2:54404800-54414400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:54406000-54414200	Weak transcription	HepG2	liver
25	chr2:54406400-54419600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:54409400-54410200	Enhancers	Fetal Lung	lung
27	chr2:54409600-54411200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:54409800-54410000	Enhancers	Right Atrium	heart
29	chr2:54410000-54420000	Weak transcription	Right Atrium	heart
30	chr2:54410200-54411200	Weak transcription	Fetal Lung	lung
31	chr2:54411000-54411400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:54411200-54411600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:54411200-54411600	Enhancers	Fetal Lung	lung
34	chr2:54411200-54411600	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:54411200-54415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:54411200-54423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:54411400-54411600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:54411600-54412400	Weak transcription	Fetal Lung	lung
39	chr2:54411600-54414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:54411600-54416800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:54411600-54417200	Weak transcription	Right Ventricle	heart
42	chr2:54411800-54412200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:54412200-54412600	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr2:54412200-54422200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:54412400-54412600	ZNF genes & repeats	Fetal Lung	lung
46	chr2:54412400-54414200	Weak transcription	Adipose Nuclei	Adipose
47	chr2:54412600-54422600	Weak transcription	Fetal Lung	lung
48	chr2:54412600-54435000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:54412800-54417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:54413000-54420000	Weak transcription	Spleen	Spleen

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