Variant report

Variant	nsv519306
Chromosome Location	chr2:55064132-55066310
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
2	chr2:55058953..55061884-chr2:55063493..55065215,2	K562	blood:
3	chr2:54950232..54951150-chr2:55065622..55066622,2	MCF-7	breast:
4	chr2:54990315..54991347-chr2:55065566..55066286,4	MCF-7	breast:
5	chr2:54982346..54983733-chr2:55065232..55066304,6	MCF-7	breast:
6	chr2:54990527..54991452-chr2:55065478..55066629,7	MCF-7	breast:
7	chr2:55066064..55068239-chr2:55070022..55072910,2	K562	blood:
8	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
9	chr2:55065842..55066397-chr2:55402066..55403010,2	MCF-7	breast:
10	chr2:55051760..55053947-chr2:55063196..55065513,2	K562	blood:
11	chr2:54990391..54992574-chr2:55063841..55065808,2	MCF-7	breast:
12	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
13	chr2:54892587..54893215-chr2:55065584..55066311,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214595	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375108835	chr2:55064132-55064133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558904343	chr2:55064135-55064136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189974416	chr2:55064143-55064144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72919507	chr2:55064147-55064148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138168721	chr2:55064182-55064183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544330806	chr2:55064186-55064187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116837032	chr2:55064191-55064192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543512423	chr2:55064204-55064205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181375787	chr2:55064205-55064206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376564248	chr2:55064213-55064214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545574185	chr2:55064219-55064220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576453426	chr2:55064229-55064230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545359665	chr2:55064231-55064232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149541235	chr2:55064241-55064242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528741712	chr2:55064263-55064264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113963910	chr2:55064291-55064292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184581562	chr2:55064315-55064316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562301174	chr2:55064321-55064322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530973826	chr2:55064331-55064332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144011531	chr2:55064363-55064364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7560750	chr2:55064395-55064396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188244682	chr2:55064396-55064397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200578189	chr2:55064432-55064433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546991795	chr2:55064433-55064434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566025940	chr2:55064440-55064441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369312542	chr2:55064444-55064445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534907724	chr2:55064445-55064446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180951323	chr2:55064454-55064455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574577440	chr2:55064463-55064464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141461761	chr2:55064473-55064474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556653923	chr2:55064480-55064481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1549839	chr2:55064493-55064494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185018672	chr2:55064502-55064503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111568177	chr2:55064511-55064512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550369529	chr2:55064535-55064536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112387201	chr2:55064542-55064543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376959208	chr2:55064545-55064546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139514173	chr2:55064551-55064552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113916963	chr2:55064554-55064555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542521114	chr2:55064563-55064564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191050161	chr2:55064595-55064596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562199957	chr2:55064598-55064599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182103908	chr2:55064604-55064605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570547839	chr2:55064609-55064610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564596802	chr2:55064612-55064613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533460217	chr2:55064651-55064652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547057150	chr2:55064652-55064653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566881271	chr2:55064664-55064665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529224703	chr2:55064689-55064690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78268223	chr2:55064708-55064709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55046400-55065600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55053400-55079000	Weak transcription	HepG2	liver
3	chr2:55053600-55065000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:55053600-55065200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:55054200-55067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:55057600-55064600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:55062200-55069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55062400-55065600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:55062400-55066600	Weak transcription	HSMMtube	muscle
10	chr2:55062600-55066600	Weak transcription	Ovary	ovary
11	chr2:55063600-55064200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:55063800-55064400	Enhancers	Adipose Nuclei	Adipose
13	chr2:55063800-55072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:55064000-55065600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:55064000-55065600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:55064000-55068200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55064200-55065400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:55064400-55065600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:55064400-55065800	Enhancers	Fetal Brain Male	brain
20	chr2:55064600-55066800	Enhancers	Brain Substantia Nigra	brain
21	chr2:55064800-55066000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:55064800-55066800	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:55065000-55066800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:55065000-55068600	Enhancers	Brain Anterior Caudate	brain
25	chr2:55065200-55065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:55065200-55066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:55065200-55066400	Enhancers	Brain Angular Gyrus	brain
28	chr2:55065200-55066800	Enhancers	Brain Hippocampus Middle	brain
29	chr2:55065400-55065600	Enhancers	Fetal Kidney	kidney
30	chr2:55065400-55065800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:55065400-55065800	Enhancers	Liver	Liver
32	chr2:55065600-55065800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:55065600-55065800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:55065600-55065800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:55065600-55065800	Enhancers	Adipose Nuclei	Adipose
36	chr2:55065600-55065800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55065600-55065800	Enhancers	Placenta	Placenta
38	chr2:55065600-55066000	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:55065600-55066400	Enhancers	Fetal Muscle Leg	muscle
40	chr2:55065600-55066400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:55065800-55066200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:55065800-55066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:55065800-55071200	Weak transcription	Fetal Brain Male	brain
44	chr2:55066000-55067200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:55066200-55066800	Enhancers	Fetal Kidney	kidney
46	chr2:55066200-55067000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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