Variant report

Variant	esv2830236
Chromosome Location	chr2:142125733-142151405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 611 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557046134	chr2:142131264-142131265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576919304	chr2:142131309-142131310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189479467	chr2:142131390-142131391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144287184	chr2:142131426-142131427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2683870	chr2:142131445-142131446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527988950	chr2:142131454-142131455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148708523	chr2:142131455-142131456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561803588	chr2:142131501-142131502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181528980	chr2:142131568-142131569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549619906	chr2:142131582-142131583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544184440	chr2:142131586-142131587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557569450	chr2:142131613-142131614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567578032	chr2:142131702-142131703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186599152	chr2:142131725-142131726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75927385	chr2:142131739-142131740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527335273	chr2:142131748-142131749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552523415	chr2:142131793-142131794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114490317	chr2:142131818-142131819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3946535	chr2:142131850-142131851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548867094	chr2:142131901-142131902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568374973	chr2:142131904-142131905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549900816	chr2:142131971-142131972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537089425	chr2:142131973-142131974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571401983	chr2:142132018-142132019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538698699	chr2:142132041-142132042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570641394	chr2:142132044-142132045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539533094	chr2:142132078-142132079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553160479	chr2:142132100-142132101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573018146	chr2:142132122-142132123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72983141	chr2:142132168-142132169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13408413	chr2:142132185-142132186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575598223	chr2:142132234-142132235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114827717	chr2:142132256-142132257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564047906	chr2:142132286-142132287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147530793	chr2:142132297-142132298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35915195	chr2:142132325-142132326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189156487	chr2:142132333-142132334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559945963	chr2:142132386-142132387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370340893	chr2:142132393-142132394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79540985	chr2:142132419-142132420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552932363	chr2:142132426-142132427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79164901	chr2:142132437-142132438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557676057	chr2:142132478-142132479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181801444	chr2:142132521-142132522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531090225	chr2:142132560-142132561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550597779	chr2:142132562-142132563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140228000	chr2:142132567-142132568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79235442	chr2:142132602-142132603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78735954	chr2:142132642-142132643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566808951	chr2:142132669-142132670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142131200-142133200	Enhancers	Dnd41	blood
2	chr2:142132600-142135400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142133600-142137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:142135400-142135800	Enhancers	Brain Substantia Nigra	brain
5	chr2:142135400-142136000	Enhancers	Dnd41	blood
6	chr2:142135400-142136200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:142136000-142138400	Flanking Active TSS	Dnd41	blood
8	chr2:142136200-142139600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:142137000-142138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:142137000-142138600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:142137400-142138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:142137800-142138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:142137800-142138600	Enhancers	Fetal Thymus	thymus
14	chr2:142138000-142138400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:142138000-142138400	Enhancers	Brain Anterior Caudate	brain
16	chr2:142138000-142138600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:142138400-142139400	Weak transcription	Brain Anterior Caudate	brain
18	chr2:142138400-142143200	Enhancers	Dnd41	blood
19	chr2:142138600-142139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:142139600-142139800	Enhancers	Brain Anterior Caudate	brain
21	chr2:142139600-142140000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:142139600-142140200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:142140000-142142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:142142200-142142800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:142142400-142142800	Enhancers	A549	lung
26	chr2:142148600-142151000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:142149000-142150400	Enhancers	Hela-S3	cervix
28	chr2:142149200-142149400	Weak transcription	A549	lung
29	chr2:142149400-142150400	Enhancers	A549	lung
30	chr2:142149400-142151200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:142149600-142151400	Enhancers	HUVEC	blood vessel
32	chr2:142149800-142151600	Enhancers	NH-A	brain
33	chr2:142150000-142151000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:142150000-142151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:142150200-142150800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:142150200-142150800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:142150400-142150800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:142150400-142150800	Flanking Active TSS	A549	lung
39	chr2:142150400-142150800	Flanking Active TSS	Hela-S3	cervix
40	chr2:142150600-142151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:142150800-142151400	Enhancers	A549	lung
42	chr2:142150800-142152200	Enhancers	Hela-S3	cervix
43	chr2:142151200-142151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:142151200-142152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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