Variant report

Variant	nsv581387
Chromosome Location	chr2:35225041-35289330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35268498-35268587	A549	lung:	n/a	n/a
2	CEBPB	chr2:35236508-35236708	A549	lung:	n/a	n/a
3	CEBPB	chr2:35255529-35255814	HepG2	liver:	n/a	chr2:35255644-35255655
4	CEBPB	chr2:35268351-35268632	HepG2	liver:	n/a	chr2:35268466-35268477
5	CTCF	chr2:35261038-35261230	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr2:35261060-35261210	HRE	kidney:	n/a	n/a
7	CTCF	chr2:35261060-35261210	GM12872	blood:	n/a	n/a
8	CTCF	chr2:35261100-35261250	NHEK	skin:	n/a	n/a
9	CTCF	chr2:35261065-35261186	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:35261140-35261290	GM12872	blood:	n/a	n/a
11	CTCF	chr2:35261095-35261217	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:35261040-35261190	GM12871	blood:	n/a	n/a
13	CTCF	chr2:35246309-35246389	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:35260954-35261307	GM12878	blood:	n/a	n/a
15	CTCF	chr2:35261060-35261210	GM12878	blood:	n/a	n/a
16	CTCF	chr2:35261060-35261210	HAc	cerebellar:	n/a	n/a
17	CTCF	chr2:35261000-35261150	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr2:35260996-35261341	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:35261040-35261190	HMEC	breast:	n/a	n/a
20	CTCF	chr2:35261027-35261234	HepG2	liver:	n/a	n/a
21	CTCF	chr2:35261020-35261170	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr2:35285623-35285693	Lung_OC	lung:	n/a	n/a
23	CTCF	chr2:35261040-35261190	Caco-2	colon:	n/a	n/a
24	CTCF	chr2:35261083-35261189	GM13977	blood:	n/a	n/a
25	CTCF	chr2:35261067-35261193	Medullo	brain:	n/a	n/a
26	CTCF	chr2:35261029-35261256	NHEK	skin:	n/a	n/a
27	CTCF	chr2:35261060-35261210	BE2_C	brain:	n/a	n/a
28	CTCF	chr2:35261040-35261190	GM12867	blood:	n/a	n/a
29	CTCF	chr2:35261000-35261150	BE2_C	brain:	n/a	n/a
30	CTCF	chr2:35261020-35261170	GM12868	blood:	n/a	n/a
31	CTCF	chr2:35261000-35261150	GM12873	blood:	n/a	n/a
32	CTCF	chr2:35261132-35261165	K562	blood:	n/a	n/a
33	CTCF	chr2:35261100-35261250	RPTEC	kidney:	n/a	n/a
34	CTCF	chr2:35261020-35261170	HEK293	kidney:	n/a	n/a
35	CTCF	chr2:35261120-35261270	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr2:35261019-35261170	A549	lung:	n/a	n/a
37	CTCF	chr2:35261072-35261203	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr2:35261110-35261196	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:35261080-35261230	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr2:35260895-35261359	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:35260451-35261494	A549	lung:	n/a	n/a
42	CTCF	chr2:35261020-35261170	HAc	cerebellar:	n/a	n/a
43	CTCF	chr2:35261091-35261210	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:35230222-35230376	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr2:35261018-35261301	A549	lung:	n/a	n/a
46	CTCF	chr2:35261018-35261239	Gliobla	brain:	n/a	n/a
47	CTCF	chr2:35261074-35261160	GM12878	blood:	n/a	n/a
48	CTCF	chr2:35261080-35261230	A549	lung:	n/a	n/a
49	CTCF	chr2:35261040-35261190	GM12874	blood:	n/a	n/a
50	CTCF	chr2:35261060-35261210	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
2	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
3	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-15	chr2:35241501-35241682	NONHSAT070041
2	lnc-RASGRP3-15	chr2:35237654-35237725	NONHSAT070041
3	lnc-FAM98A-3	chr2:35225023-35225227	ENSG00000237320
4	lnc-RASGRP3-15	chr2:35238117-35238198	NONHSAT070041
5	lnc-RASGRP3-15	chr2:35241346-35241409	NONHSAT070041

No data

Variant related genes	Relation type
ENSG00000237320	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2290383	chr2:35225041-35225042	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143251251	chr2:35225046-35225047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs2290382	chr2:35225059-35225060	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540331066	chr2:35225073-35225074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs560109340	chr2:35225146-35225147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559410702	chr2:35225160-35225161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114676565	chr2:35225161-35225162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548990352	chr2:35225172-35225173	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs569158438	chr2:35225189-35225190	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376257735	chr2:35225192-35225193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs184049624	chr2:35227894-35227895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561454056	chr2:35228567-35228568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530448971	chr2:35228577-35228578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191752184	chr2:35228591-35228592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570241997	chr2:35228635-35228636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183481460	chr2:35228638-35228639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs115012546	chr2:35228644-35228645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551856948	chr2:35228679-35228680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188163293	chr2:35228681-35228682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535756326	chr2:35237670-35237671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs555495838	chr2:35237675-35237676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs79361480	chr2:35237676-35237677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs527609090	chr2:35237678-35237679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs371313907	chr2:35237680-35237681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377728799	chr2:35237700-35237701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs149761727	chr2:35237720-35237721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7570891	chr2:35237721-35237722	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182408935	chr2:35238139-35238140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs373182286	chr2:35238143-35238144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548896549	chr2:35238166-35238167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs574008094	chr2:35241355-35241356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs542798428	chr2:35241376-35241377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs377327130	chr2:35241387-35241388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs7599426	chr2:35241398-35241399	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181293983	chr2:35241406-35241407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs564704139	chr2:35241513-35241514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs527315763	chr2:35241515-35241516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547003191	chr2:35241525-35241526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560384164	chr2:35241534-35241535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs531010047	chr2:35241592-35241593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs143793823	chr2:35241653-35241654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs189803231	chr2:35241675-35241676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs569473476	chr2:35241676-35241677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs534384203	chr2:35263054-35263055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554453076	chr2:35263066-35263067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79958963	chr2:35263096-35263097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536716095	chr2:35263106-35263107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556403364	chr2:35263152-35263153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576338719	chr2:35263171-35263172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77269765	chr2:35263174-35263175	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35263000-35263200	Enhancers	Esophagus	oesophagus
2	chr2:35263200-35265200	Weak transcription	Esophagus	oesophagus
3	chr2:35265200-35265400	Enhancers	Esophagus	oesophagus
4	chr2:35265400-35265600	Weak transcription	Esophagus	oesophagus

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