Variant report

Variant	nsv517815
Chromosome Location	chr2:35073607-35092762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
2	CTCF	chr2:35080300-35080370	Lung_OC	lung:	n/a	n/a
3	CTCF	chr2:35084833-35084876	Kidney_OC	kidney:	n/a	n/a
4	MAFK	chr2:35074228-35074307	HepG2	liver:	n/a	n/a
5	NRF1	chr2:35076181-35076199	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:35091271-35091477	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:35080041-35080225	A549	lung:	n/a	n/a
8	POLR2A	chr2:35078999-35079051	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:35080028-35080037	A549	lung:	n/a	n/a
10	POLR2A	chr2:35073615-35073704	A549	lung:	n/a	n/a
11	STAT3	chr2:35084416-35084567	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr2:35075152-35075156	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061
2	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
3	lnc-FAM98A-11	chr2:35076849-35077075	NONHSAT070061

No data

Variant related genes	Relation type
ENSG00000226994	TF binding region

Extended variants
information (count: 391 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs280691	chr2:35073607-35073608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181522081	chr2:35073630-35073631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115173918	chr2:35073631-35073632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187506512	chr2:35073647-35073648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141983328	chr2:35073673-35073674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553934849	chr2:35073676-35073677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369490923	chr2:35073687-35073688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs280692	chr2:35073709-35073710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573107430	chr2:35073715-35073716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555885290	chr2:35073773-35073774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575607393	chr2:35073778-35073779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143166723	chr2:35073792-35073793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs280693	chr2:35073810-35073811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148268792	chr2:35073811-35073812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374376103	chr2:35073815-35073816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140407541	chr2:35073817-35073818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150348758	chr2:35073825-35073826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367912278	chr2:35073832-35073833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543123083	chr2:35073844-35073845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369442941	chr2:35073863-35073864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563006230	chr2:35073875-35073876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531703364	chr2:35073913-35073914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578194677	chr2:35073930-35073931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190295347	chr2:35073937-35073938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564986475	chr2:35073984-35073985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181023002	chr2:35073991-35073992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72796911	chr2:35074033-35074034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185036880	chr2:35074059-35074060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138055339	chr2:35074070-35074071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9308961	chr2:35074107-35074108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536083931	chr2:35074125-35074126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370229650	chr2:35074153-35074154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs280694	chr2:35074155-35074156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538202223	chr2:35074163-35074164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141998362	chr2:35074172-35074173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115928823	chr2:35074189-35074190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534505493	chr2:35074200-35074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554197782	chr2:35074210-35074211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574163526	chr2:35074234-35074235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145437500	chr2:35074259-35074260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146332809	chr2:35074289-35074290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114387312	chr2:35074299-35074300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72796913	chr2:35074300-35074301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540796315	chr2:35074317-35074318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115887835	chr2:35074378-35074379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375405056	chr2:35074382-35074383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549817095	chr2:35074385-35074386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547645813	chr2:35074389-35074390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561060655	chr2:35074394-35074395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138186027	chr2:35074398-35074399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35057200-35080400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:35073000-35075600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:35073200-35075200	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:35073800-35074200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:35074600-35081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:35075600-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:35075800-35078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:35075800-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:35076600-35076800	Enhancers	Pancreas	Pancrea
12	chr2:35076600-35077000	Enhancers	Liver	Liver
13	chr2:35076800-35079000	Weak transcription	Pancreas	Pancrea
14	chr2:35078200-35079600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:35078600-35079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:35078600-35079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:35079000-35079200	Enhancers	Pancreas	Pancrea

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