Variant report

Variant	nsv433206
Chromosome Location	chr2:142469781-142486875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142485696..142487597-chr2:142491674..142494496,2	MCF-7	breast:
2	chr2:142482564..142485203-chr2:142902168..142904224,2	MCF-7	breast:
3	chr2:142472166..142473906-chr2:142479334..142480857,2	K562	blood:
4	chr2:142472166..142473906-chr2:142479334..142480857,2	K562	blood:
5	chr2:142462917..142465452-chr2:142476627..142478570,2	K562	blood:

Extended variants
information (count: 529 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16846935	chr2:142469781-142469782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372353840	chr2:142469795-142469796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs36079425	chr2:142469827-142469828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189829032	chr2:142469853-142469854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577214371	chr2:142469916-142469917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112687312	chr2:142469928-142469929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112476346	chr2:142469947-142469948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527420571	chr2:142470003-142470004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560474224	chr2:142470011-142470012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547489251	chr2:142470031-142470032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72846590	chr2:142470049-142470050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536257044	chr2:142470164-142470165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141650852	chr2:142470165-142470166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569620183	chr2:142470213-142470214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72846591	chr2:142470239-142470240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376295207	chr2:142470240-142470241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558424929	chr2:142470246-142470247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182066106	chr2:142470261-142470262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540341389	chr2:142470282-142470283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554257917	chr2:142470283-142470284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560920051	chr2:142470324-142470325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573904134	chr2:142470325-142470326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543054955	chr2:142470340-142470341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562431655	chr2:142470371-142470372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62166541	chr2:142470470-142470471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62166558	chr2:142470474-142470475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551952569	chr2:142470492-142470493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564897029	chr2:142470494-142470495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527493181	chr2:142470525-142470526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554806001	chr2:142470539-142470540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375355462	chr2:142470541-142470542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532042361	chr2:142470544-142470545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568895510	chr2:142470559-142470560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561043385	chr2:142470566-142470567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529656749	chr2:142470569-142470570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549845021	chr2:142470592-142470593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576107737	chr2:142470608-142470609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141820840	chr2:142470619-142470620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552125845	chr2:142470635-142470636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568010150	chr2:142470656-142470657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536438351	chr2:142470657-142470658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397870971	chr2:142470670-142470671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12471563	chr2:142470679-142470680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185419534	chr2:142470729-142470730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3856361	chr2:142470733-142470734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574119129	chr2:142470741-142470742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16846937	chr2:142470773-142470774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556164728	chr2:142470795-142470796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs978600	chr2:142470836-142470837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544866099	chr2:142470865-142470866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142469400-142469800	Enhancers	Fetal Lung	lung
2	chr2:142469600-142471400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:142469600-142471600	Weak transcription	Adipose Nuclei	Adipose
4	chr2:142469600-142472000	Weak transcription	Liver	Liver
5	chr2:142469800-142472400	Weak transcription	Fetal Lung	lung
6	chr2:142471000-142472000	Enhancers	Colon Smooth Muscle	Colon
7	chr2:142471400-142472000	Enhancers	Fetal Brain Female	brain
8	chr2:142471400-142472400	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:142471400-142472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:142471400-142472600	Enhancers	Dnd41	blood
11	chr2:142471400-142472800	Enhancers	Fetal Brain Male	brain
12	chr2:142471600-142472000	Enhancers	Fetal Kidney	kidney
13	chr2:142471600-142473000	Enhancers	Adipose Nuclei	Adipose
14	chr2:142472000-142472800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:142472000-142472800	Enhancers	Liver	Liver
16	chr2:142472000-142473600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:142472200-142472600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:142472400-142472600	Enhancers	Fetal Lung	lung
19	chr2:142472400-142475400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:142472800-142474000	Weak transcription	Fetal Brain Male	brain
21	chr2:142473600-142475400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:142474400-142474600	Enhancers	Fetal Brain Male	brain
23	chr2:142475000-142476000	Enhancers	Fetal Stomach	stomach
24	chr2:142475400-142476000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:142475400-142476800	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:142476000-142476200	Enhancers	Colon Smooth Muscle	Colon
27	chr2:142477800-142478800	Enhancers	Hela-S3	cervix
28	chr2:142478800-142481800	Weak transcription	Hela-S3	cervix
29	chr2:142481000-142482400	Enhancers	Liver	Liver
30	chr2:142481800-142482200	Enhancers	Hela-S3	cervix
31	chr2:142485000-142486800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:142485400-142486400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:142485600-142486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:142485600-142486400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:142485600-142486600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:142485600-142486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:142485600-142486800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:142485600-142487000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:142485800-142486200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:142485800-142486400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:142485800-142486600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:142486000-142486600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:142486200-142486800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:142486400-142486600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:142486400-142494600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:142486400-142501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:142486600-142492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:142486600-142494000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:142486800-142490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:142486800-142492000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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