Variant report

Variant	nsv875207
Chromosome Location	chr2:141517652-141592252
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	chr2:141578371..141581327-chr2:141582327..141584465,2	MCF-7	breast:
2	chr2:141566441..141569231-chr2:141574009..141576790,2	MCF-7	breast:
3	chr2:141544738..141546245-chr2:141560718..141563690,2	K562	blood:
4	chr2:141545276..141548084-chr2:141552210..141554901,2	K562	blood:
5	chr2:141545276..141548084-chr2:141552210..141554901,2	K562	blood:
6	chr2:141566441..141569231-chr2:141574009..141576790,2	MCF-7	breast:
7	chr2:141503402..141505492-chr2:141538809..141541757,2	K562	blood:
8	chr2:141578371..141581327-chr2:141582327..141584465,2	MCF-7	breast:
9	chr2:141514849..141517014-chr2:141519451..141521522,2	MCF-7	breast:
10	chr2:141536035..141538351-chr2:141538844..141542293,3	MCF-7	breast:
11	chr2:141536035..141538351-chr2:141538844..141542293,3	MCF-7	breast:
12	chr2:141497933..141498923-chr2:141566337..141567066,2	MCF-7	breast:
13	chr2:141544738..141546245-chr2:141560718..141563690,2	K562	blood:

No data

Extended variants
information (count: 662 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185959	chr2:141517652-141517653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561788266	chr2:141517654-141517655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75892789	chr2:141517677-141517678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80119935	chr2:141517690-141517691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563911807	chr2:141517701-141517702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17514509	chr2:141517707-141517708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76606121	chr2:141517755-141517756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560401806	chr2:141517772-141517773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554007779	chr2:141517798-141517799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114713910	chr2:141517811-141517812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139865423	chr2:141517823-141517824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7564286	chr2:141517866-141517867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142129817	chr2:141517873-141517874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551520223	chr2:141517951-141517952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151139513	chr2:141518018-141518019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs208359	chr2:141518019-141518020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553342414	chr2:141518036-141518037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550411955	chr2:141518060-141518061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535780869	chr2:141518061-141518062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs288108	chr2:141518121-141518122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189710390	chr2:141518125-141518126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544268498	chr2:141518131-141518132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558245249	chr2:141518152-141518153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182062141	chr2:141518168-141518169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540421730	chr2:141518176-141518177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140056471	chr2:141518181-141518182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529170941	chr2:141518182-141518183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200187650	chr2:141518189-141518190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377047515	chr2:141518190-141518191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542968275	chr2:141518193-141518194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200158038	chr2:141525602-141525603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146214301	chr2:141525652-141525653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560281215	chr2:141525747-141525748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529457625	chr2:141525752-141525753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543260627	chr2:141525764-141525765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190346679	chr2:141525772-141525773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549197614	chr2:141525782-141525783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182909248	chr2:141525867-141525868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551466661	chr2:141525871-141525872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375454456	chr2:141525900-141525901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147819654	chr2:141525969-141525970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188021955	chr2:141526009-141526010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192295934	chr2:141526068-141526069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547925938	chr2:141526079-141526080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182653131	chr2:141526129-141526130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374060892	chr2:141526147-141526148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371490839	chr2:141534202-141534203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530594399	chr2:141534239-141534240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11675046	chr2:141534260-141534261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186959902	chr2:141534309-141534310	Enhancers	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
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141516400-141517800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:141516600-141517800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:141516800-141518200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:141525600-141526200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:141534200-141535200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:141536800-141537600	Active TSS	Primary T cells from cord blood	blood
7	chr2:141537000-141537200	Enhancers	Dnd41	blood
8	chr2:141537200-141537600	Active TSS	A549	lung
9	chr2:141537200-141537800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:141537200-141538200	Flanking Active TSS	Dnd41	blood
11	chr2:141537400-141537800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:141537600-141537800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr2:141537800-141539000	Enhancers	Primary T cells from cord blood	blood
14	chr2:141537800-141542000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:141538200-141538600	Enhancers	Dnd41	blood
16	chr2:141538600-141541600	Weak transcription	Dnd41	blood
17	chr2:141539800-141540600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:141540600-141544000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:141541600-141541800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:141541600-141542200	Enhancers	Dnd41	blood
21	chr2:141542000-141542200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:141542000-141543200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:141542200-141543000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:141542600-141544800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:141543200-141544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:141543400-141544600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:141543600-141544400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:141543600-141544400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:141543800-141544600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:141544000-141544400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:141544000-141544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:141544000-141544600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:141544000-141544600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:141544200-141544600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:141555200-141555600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:141555200-141556000	Enhancers	GM12878-XiMat	blood
37	chr2:141555400-141555800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:141556000-141556200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr2:141558800-141559800	Active TSS	A549	lung
40	chr2:141562200-141563000	Enhancers	NHDF-Ad	bronchial
41	chr2:141562400-141563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:141579200-141580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:141579200-141580600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:141579200-141581000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:141579400-141580000	Enhancers	NHDF-Ad	bronchial
46	chr2:141579600-141579800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:141579600-141580600	Enhancers	Hela-S3	cervix
48	chr2:141579600-141580800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:141579800-141580400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:141579800-141580400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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