Variant report

Variant	nsv875253
Chromosome Location	chr2:142805006-142855291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142851874..142854063-chr2:142888433..142890224,2	MCF-7	breast:
2	chr2:142832252..142835067-chr2:142835097..142836717,2	MCF-7	breast:
3	chr2:142837019..142839194-chr2:142839931..142842299,2	MCF-7	breast:
4	chr2:142854531..142857434-chr2:142881321..142883882,2	MCF-7	breast:
5	chr2:142811783..142813457-chr2:142887329..142889786,2	MCF-7	breast:
6	chr2:142832252..142835067-chr2:142835097..142836717,2	MCF-7	breast:
7	chr2:142837019..142839194-chr2:142839931..142842299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1186 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1186 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1449500	chr2:142805006-142805007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191712320	chr2:142805051-142805052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147881023	chr2:142805093-142805094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549678029	chr2:142805094-142805095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530855752	chr2:142805096-142805097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569820480	chr2:142805099-142805100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572471111	chr2:142805103-142805104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538386437	chr2:142805104-142805105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62157629	chr2:142805106-142805107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76679192	chr2:142805167-142805168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183997940	chr2:142805174-142805175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368085088	chr2:142805262-142805263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534548590	chr2:142805342-142805343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114816807	chr2:142805349-142805350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574214794	chr2:142805483-142805484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10803487	chr2:142805493-142805494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562968418	chr2:142805508-142805509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576575246	chr2:142805553-142805554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545212816	chr2:142805570-142805571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71949557	chr2:142805635-142805636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35672229	chr2:142805636-142805637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397873665	chr2:142805638-142805639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564999664	chr2:142805698-142805699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140304957	chr2:142805715-142805716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138417730	chr2:142805752-142805753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547360529	chr2:142805782-142805783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145332302	chr2:142805804-142805805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529980938	chr2:142805813-142805814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375214169	chr2:142805840-142805841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550029748	chr2:142805919-142805920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186426567	chr2:142805923-142805924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550917426	chr2:142805955-142805956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538783391	chr2:142805974-142805975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115330803	chr2:142806090-142806091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137893379	chr2:142806234-142806235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577732042	chr2:142806235-142806236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534615046	chr2:142806256-142806257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189706185	chr2:142806258-142806259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182216291	chr2:142806278-142806279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7605112	chr2:142806289-142806290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556807417	chr2:142806301-142806302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576570594	chr2:142806386-142806387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12619411	chr2:142806420-142806421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545745338	chr2:142806451-142806452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72990363	chr2:142806469-142806470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541102181	chr2:142806536-142806537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560978411	chr2:142806551-142806552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115405510	chr2:142806562-142806563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543358092	chr2:142806574-142806575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563561243	chr2:142806587-142806588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142796200-142809800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:142800400-142810200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142809800-142810400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:142809800-142810400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:142809800-142810400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:142809800-142810400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:142809800-142810600	Enhancers	Brain Substantia Nigra	brain
8	chr2:142810000-142810400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:142810000-142810400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:142810000-142810600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:142810000-142810800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:142810000-142810800	Enhancers	Brain Angular Gyrus	brain
13	chr2:142810000-142811600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:142810200-142810600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:142810200-142811600	Enhancers	Brain Anterior Caudate	brain
16	chr2:142810400-142811400	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:142810600-142810800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:142810800-142818200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:142811400-142811600	Enhancers	Brain Hippocampus Middle	brain
20	chr2:142811400-142811600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:142811600-142821400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:142818200-142818400	Enhancers	Brain Angular Gyrus	brain
23	chr2:142818400-142821400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:142819000-142819800	Enhancers	Brain Anterior Caudate	brain
25	chr2:142819000-142820000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:142819000-142820200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:142819000-142820200	Enhancers	Brain Substantia Nigra	brain
28	chr2:142819200-142819800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:142819400-142820200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:142819600-142820000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:142819800-142820200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:142819800-142821400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:142820000-142821800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:142820200-142821400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:142821400-142821800	Enhancers	Brain Substantia Nigra	brain
36	chr2:142821400-142822000	Enhancers	Brain Angular Gyrus	brain
37	chr2:142821400-142823000	Enhancers	Brain Anterior Caudate	brain
38	chr2:142821400-142823000	Enhancers	Brain Hippocampus Middle	brain
39	chr2:142821800-142822200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:142821800-142822600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:142821800-142824600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:142822200-142822800	Active TSS	Brain Substantia Nigra	brain
43	chr2:142822600-142823200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:142822800-142823000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr2:142823000-142824000	Enhancers	Brain Substantia Nigra	brain
46	chr2:142823000-142824400	Weak transcription	Brain Anterior Caudate	brain
47	chr2:142824400-142824600	Enhancers	Brain Anterior Caudate	brain
48	chr2:142824600-142825200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:142825200-142825400	Enhancers	Brain Anterior Caudate	brain
50	chr2:142829200-142829400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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