Variant report

Variant	nsv525624
Chromosome Location	chr2:55063113-55066310
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	chr2:55065842..55066397-chr2:55402066..55403010,2	MCF-7	breast:
2	chr2:54990315..54991347-chr2:55065566..55066286,4	MCF-7	breast:
3	chr2:55066064..55068239-chr2:55070022..55072910,2	K562	blood:
4	chr2:54982346..54983733-chr2:55065232..55066304,6	MCF-7	breast:
5	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
6	chr2:54990527..54991452-chr2:55065478..55066629,7	MCF-7	breast:
7	chr2:54950232..54951150-chr2:55065622..55066622,2	MCF-7	breast:
8	chr2:54990391..54992574-chr2:55063841..55065808,2	MCF-7	breast:
9	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
10	chr2:54892587..54893215-chr2:55065584..55066311,2	MCF-7	breast:
11	chr2:55058953..55061884-chr2:55063493..55065215,2	K562	blood:
12	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
13	chr2:55051760..55053947-chr2:55063196..55065513,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214595	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1549840	chr2:55063113-55063114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529643259	chr2:55063119-55063120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570844154	chr2:55063121-55063122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144497162	chr2:55063125-55063126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73935673	chr2:55063150-55063151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191280575	chr2:55063165-55063166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545714229	chr2:55063175-55063176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558703593	chr2:55063193-55063194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565881009	chr2:55063214-55063215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534782498	chr2:55063246-55063247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146649477	chr2:55063269-55063270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574744787	chr2:55063270-55063271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543772392	chr2:55063302-55063303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113588269	chr2:55063306-55063307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576273534	chr2:55063311-55063312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142385111	chr2:55063319-55063320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367919396	chr2:55063351-55063352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553313738	chr2:55063364-55063365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371413831	chr2:55063410-55063411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559891103	chr2:55063483-55063484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540780424	chr2:55063496-55063497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184991933	chr2:55063507-55063508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559246953	chr2:55063508-55063509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375733447	chr2:55063514-55063515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6755767	chr2:55063536-55063537	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs368954530	chr2:55063547-55063548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386646280	chr2:55063552-55063553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151305577	chr2:55063554-55063555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140765493	chr2:55063555-55063556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145899559	chr2:55063557-55063558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565944534	chr2:55063559-55063560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375233352	chr2:55063600-55063601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530517843	chr2:55063606-55063607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534844142	chr2:55063640-55063641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187993059	chr2:55063653-55063654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568507059	chr2:55063683-55063684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138649038	chr2:55063688-55063689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557305141	chr2:55063692-55063693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550653979	chr2:55063710-55063711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141172580	chr2:55063721-55063722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558840867	chr2:55063728-55063729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572290651	chr2:55063736-55063737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540052975	chr2:55063760-55063761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541190388	chr2:55063763-55063764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560851868	chr2:55063822-55063823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574452357	chr2:55063841-55063842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543096571	chr2:55063851-55063852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111714332	chr2:55063861-55063862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12996834	chr2:55063905-55063906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs35432114	chr2:55063921-55063922	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:53 , 50 per page) page: 1 2

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	chr2:55058200-55063800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:55062200-55069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55062400-55065600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:55062400-55066600	Weak transcription	HSMMtube	muscle
11	chr2:55062600-55066600	Weak transcription	Ovary	ovary
12	chr2:55063000-55064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:55063400-55064000	Enhancers	Placenta	Placenta
14	chr2:55063600-55063800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:55063600-55063800	Enhancers	NHDF-Ad	bronchial
16	chr2:55063600-55064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55063600-55064200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:55063800-55064000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:55063800-55064400	Enhancers	Adipose Nuclei	Adipose
20	chr2:55063800-55072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:55064000-55065600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:55064000-55065600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:55064000-55068200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:55064200-55065400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:55064400-55065600	Weak transcription	Adipose Nuclei	Adipose
26	chr2:55064400-55065800	Enhancers	Fetal Brain Male	brain
27	chr2:55064600-55066800	Enhancers	Brain Substantia Nigra	brain
28	chr2:55064800-55066000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:55064800-55066800	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:55065000-55066800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:55065000-55068600	Enhancers	Brain Anterior Caudate	brain
32	chr2:55065200-55065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:55065200-55066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:55065200-55066400	Enhancers	Brain Angular Gyrus	brain
35	chr2:55065200-55066800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:55065400-55065600	Enhancers	Fetal Kidney	kidney
37	chr2:55065400-55065800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:55065400-55065800	Enhancers	Liver	Liver
39	chr2:55065600-55065800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:55065600-55065800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:55065600-55065800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:55065600-55065800	Enhancers	Adipose Nuclei	Adipose
43	chr2:55065600-55065800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:55065600-55065800	Enhancers	Placenta	Placenta
45	chr2:55065600-55066000	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:55065600-55066400	Enhancers	Fetal Muscle Leg	muscle
47	chr2:55065600-55066400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:55065800-55066200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:55065800-55066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:55065800-55071200	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links