Variant report

Variant	nsv874083
Chromosome Location	chr2:52024350-52094039
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:52043909-52049825..2:52049825-52050373	K562	blood:
2	2:51745267-51754233..2:52043624-52043909	K562	blood:
3	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
4	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
5	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
6	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
7	2:52043909-52049825..2:52049825-52050373	K562	blood:
8	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
9	2:51755125-51764739..2:52034460-52043624	K562	blood:
10	chr2:52069239..52070064-chr8:36656303..36657160,2	MCF-7	breast:
11	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
12	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
13	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
14	chr2:52013693..52015857-chr2:52040010..52042547,2	K562	blood:
15	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
16	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:52088587-52088626	ENSG00000231918.1

No data

Variant related genes	Relation type
ENSG00000168439	chromatin interactions

Extended variants
information (count: 1372 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545902857	chr2:52032433-52032434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201520496	chr2:52032448-52032449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs66592913	chr2:52032467-52032468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10176790	chr2:52032491-52032492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140120634	chr2:52032492-52032493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28969068	chr2:52032497-52032498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371392251	chr2:52032503-52032504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12621064	chr2:52032515-52032516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113536560	chr2:52032522-52032523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs79983586	chr2:52032524-52032525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs368792167	chr2:52032525-52032526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144089494	chr2:52032527-52032528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28966375	chr2:52032533-52032534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79009518	chr2:52032539-52032540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs199751190	chr2:52032554-52032555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs77880435	chr2:52032557-52032558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201862557	chr2:52032558-52032559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144206184	chr2:52032560-52032561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs70958682	chr2:52032574-52032575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs72878964	chr2:52032582-52032583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545624263	chr2:52032588-52032589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568325355	chr2:52032589-52032590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530738824	chr2:52032614-52032615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536965203	chr2:52032632-52032633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145783619	chr2:52032692-52032693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560955597	chr2:52032740-52032741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186656905	chr2:52032741-52032742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73930771	chr2:52032766-52032767	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17868256	chr2:52032773-52032774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs532286715	chr2:52032811-52032812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182610485	chr2:52032841-52032842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565848278	chr2:52032854-52032855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191266645	chr2:52032937-52032938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2354982	chr2:52032944-52032945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142757230	chr2:52033019-52033020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147376220	chr2:52033036-52033037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553502005	chr2:52033045-52033046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537098889	chr2:52033054-52033055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558259222	chr2:52033094-52033095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545124865	chr2:52033115-52033116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578222775	chr2:52033135-52033136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545356560	chr2:52033155-52033156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556119898	chr2:52033156-52033157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572263839	chr2:52033157-52033158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542714942	chr2:52033159-52033160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139173226	chr2:52033176-52033177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567009819	chr2:52033179-52033180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28966377	chr2:52033192-52033193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183188884	chr2:52033196-52033197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565110518	chr2:52033200-52033201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52032400-52032800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:52032400-52032800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr2:52032800-52035200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:52035200-52035400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52037200-52037600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:52037600-52038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:52038200-52039200	Enhancers	Hela-S3	cervix
8	chr2:52038400-52039600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:52038800-52040800	Enhancers	Osteobl	bone
10	chr2:52039000-52041200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:52039200-52039400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:52039200-52039400	Flanking Active TSS	Hela-S3	cervix
13	chr2:52039200-52041000	Enhancers	HMEC	breast
14	chr2:52039200-52041000	Enhancers	NH-A	brain
15	chr2:52039200-52041200	Enhancers	NHDF-Ad	bronchial
16	chr2:52039200-52041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:52039200-52042400	Enhancers	HUVEC	blood vessel
18	chr2:52039400-52039600	Enhancers	Hela-S3	cervix
19	chr2:52039400-52039800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:52039400-52040400	Enhancers	NHLF	lung
21	chr2:52039400-52041000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:52039600-52039800	Flanking Active TSS	Hela-S3	cervix
23	chr2:52039600-52043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:52039800-52040200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52039800-52041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:52039800-52041600	Enhancers	Hela-S3	cervix
27	chr2:52043200-52044000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:52043200-52044600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:52043400-52044800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:52043600-52044600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:52043600-52044600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:52043600-52044600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:52043800-52044400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:52044200-52044600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:52051800-52054000	Enhancers	Hela-S3	cervix
36	chr2:52052800-52053800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:52053400-52054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:52053800-52054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:52054200-52055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:52071200-52072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:52071400-52072000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:52071400-52072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:52071600-52072200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:52071600-52072200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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