Variant report

Variant	esv2830111
Chromosome Location	chr2:142047759-142164422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
2	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:

Extended variants
information (count: 2156 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2156 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188889051	chr2:142062005-142062006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200046758	chr2:142062044-142062045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200861646	chr2:142062045-142062046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566224716	chr2:142062065-142062066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67213971	chr2:142062066-142062067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571900104	chr2:142062080-142062081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576110464	chr2:142062109-142062110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182010555	chr2:142062110-142062111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577044611	chr2:142062127-142062128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1851161	chr2:142062218-142062219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200238677	chr2:142062226-142062227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12989989	chr2:142062237-142062238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372088744	chr2:142062239-142062240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186946360	chr2:142062258-142062259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376670298	chr2:142062272-142062273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539433223	chr2:142062290-142062291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57567311	chr2:142062317-142062318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551270918	chr2:142062344-142062345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115632099	chr2:142062412-142062413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540823824	chr2:142062418-142062419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560853385	chr2:142062428-142062429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529906825	chr2:142062450-142062451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549766027	chr2:142062457-142062458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34971386	chr2:142062520-142062521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149245495	chr2:142062529-142062530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373044200	chr2:142062539-142062540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115136260	chr2:142062542-142062543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565774851	chr2:142062551-142062552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79202611	chr2:142062552-142062553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs300347	chr2:142062599-142062600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144578531	chr2:142062611-142062612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190628551	chr2:142062613-142062614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527309150	chr2:142062635-142062636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542469845	chr2:142062686-142062687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182225281	chr2:142062720-142062721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544992231	chr2:142062725-142062726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558673473	chr2:142062746-142062747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201105163	chr2:142062748-142062749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76416068	chr2:142062792-142062793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560716232	chr2:142062844-142062845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368531645	chr2:142062853-142062854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530025437	chr2:142062857-142062858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372757096	chr2:142062882-142062883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113951845	chr2:142062914-142062915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115883696	chr2:142062930-142062931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79671516	chr2:142062951-142062952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1118042	chr2:142062957-142062958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537937184	chr2:142062982-142062983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528157163	chr2:142062984-142062985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549857218	chr2:142062997-142062998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142062000-142062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:142062200-142065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:142065200-142065600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:142065200-142065600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:142065200-142065600	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:142065600-142066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:142070600-142071200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:142074000-142074400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:142074000-142074400	Enhancers	Dnd41	blood
10	chr2:142074000-142074600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:142076000-142076800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:142076800-142078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:142077200-142077400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:142077600-142078200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:142078000-142079400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:142078200-142078800	Enhancers	Brain Substantia Nigra	brain
17	chr2:142078200-142079200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:142078600-142079200	Enhancers	Brain Hippocampus Middle	brain
19	chr2:142079600-142080000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:142081400-142081800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:142084400-142084600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:142084600-142085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:142084800-142086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:142085200-142088600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:142086800-142087600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:142087200-142087600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:142087200-142090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:142087400-142089200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:142087400-142089400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:142087400-142089400	Enhancers	Hela-S3	cervix
31	chr2:142087600-142088400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:142087600-142088600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:142088000-142089600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:142088200-142088800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:142088400-142088800	Enhancers	HMEC	breast
36	chr2:142088400-142089000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:142088600-142088800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:142088600-142089000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:142088600-142089200	Enhancers	Dnd41	blood
40	chr2:142088600-142089200	Enhancers	NH-A	brain
41	chr2:142088800-142089000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:142089200-142093400	Weak transcription	Dnd41	blood
43	chr2:142093400-142093800	Enhancers	Dnd41	blood
44	chr2:142095600-142096400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:142095800-142097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:142096400-142096600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:142097000-142097400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:142097400-142098200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:142098400-142099000	Enhancers	HUVEC	blood vessel
50	chr2:142098400-142099200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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