Variant report

Variant	nsv874089
Chromosome Location	chr2:52042513-52096257
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	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
2	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
3	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
4	2:51745267-51754233..2:52043624-52043909	K562	blood:
5	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
6	2:52043909-52049825..2:52049825-52050373	K562	blood:
7	chr2:52069239..52070064-chr8:36656303..36657160,2	MCF-7	breast:
8	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
9	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
10	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
11	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
12	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
13	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
14	chr2:52013693..52015857-chr2:52040010..52042547,2	K562	blood:
15	2:51755125-51764739..2:52034460-52043624	K562	blood:
16	2:52043909-52049825..2:52049825-52050373	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: 970 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7603003	chr2:52042513-52042514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147711312	chr2:52042527-52042528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10638971	chr2:52042659-52042660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33913392	chr2:52042660-52042661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66807206	chr2:52042663-52042664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67770767	chr2:52042682-52042683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55662872	chr2:52042685-52042686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192383662	chr2:52042692-52042693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571352314	chr2:52042786-52042787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28968772	chr2:52042787-52042788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7591096	chr2:52042788-52042789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201211052	chr2:52042798-52042799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183780290	chr2:52042814-52042815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377533640	chr2:52042827-52042828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114880698	chr2:52042842-52042843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555935683	chr2:52042853-52042854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570408549	chr2:52042861-52042862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574103050	chr2:52042881-52042882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187999566	chr2:52042884-52042885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191394752	chr2:52042913-52042914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562684323	chr2:52042916-52042917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10192876	chr2:52042921-52042922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552837996	chr2:52042970-52042971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182845981	chr2:52042987-52042988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142433310	chr2:52043020-52043021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111455515	chr2:52043025-52043026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527601271	chr2:52043061-52043062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187185960	chr2:52043107-52043108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6745103	chr2:52043114-52043115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1125610	chr2:52043134-52043135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553449424	chr2:52043182-52043183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34390039	chr2:52043194-52043195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556185081	chr2:52043216-52043217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5831192	chr2:52043271-52043272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541779519	chr2:52043273-52043274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397783074	chr2:52043279-52043280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191644650	chr2:52043287-52043288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28949916	chr2:52043289-52043290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71411557	chr2:52043310-52043311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554466140	chr2:52043312-52043313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397844432	chr2:52043314-52043315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1125611	chr2:52043315-52043316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs193283003	chr2:52043330-52043331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150933302	chr2:52043331-52043332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543475573	chr2:52043368-52043369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556417047	chr2:52043397-52043398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534509536	chr2:52043403-52043404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529771024	chr2:52043405-52043406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368832021	chr2:52043410-52043411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28966389	chr2:52043445-52043446	Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52039600-52043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:52043200-52044000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:52043200-52044600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:52043400-52044800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:52043600-52044600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:52043600-52044600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:52043600-52044600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:52043800-52044400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:52044200-52044600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:52051800-52054000	Enhancers	Hela-S3	cervix
11	chr2:52052800-52053800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:52053400-52054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:52053800-52054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:52054200-52055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:52071200-52072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:52071400-52072000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:52071400-52072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:52071600-52072200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:52071600-52072200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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