Variant report

Variant	nsv961803
Chromosome Location	chr2:87237012-87250650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:87248819-87249126	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:87238411-87238622	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:87241774-87242338	HepG2	liver:	n/a	n/a
4	CTCF	chr2:87247224-87247289	GM13976	blood:	n/a	n/a
5	CTCF	chr2:87248027-87248092	GM13976	blood:	n/a	n/a
6	CTCF	chr2:87248373-87248464	GM13976	blood:	n/a	n/a
7	CTCF	chr2:87244321-87244380	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:87239159-87239229	LNCaP	prostate:	n/a	n/a
9	FOSL2	chr2:87246112-87246633	HepG2	liver:	n/a	n/a
10	FOSL2	chr2:87248769-87249117	HepG2	liver:	n/a	n/a
11	FOSL2	chr2:87241526-87242653	HepG2	liver:	n/a	n/a
12	FOSL2	chr2:87241548-87242286	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:87248838-87249151	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:87250442-87250827	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:87248070-87248431	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:87242342-87242731	HepG2	liver:	n/a	n/a
17	FOSL2	chr2:87246087-87246700	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:87241414-87242615	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:87248635-87249266	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:87246100-87246715	HepG2	liver:	n/a	chr2:87246699-87246711
21	FOXA1	chr2:87244884-87245175	HepG2	liver:	n/a	n/a
22	FOXA1	chr2:87240029-87240441	HepG2	liver:	n/a	n/a
23	FOXA2	chr2:87248833-87249203	A549	lung:	n/a	n/a
24	HEY1	chr2:87246363-87246546	HepG2	liver:	n/a	n/a
25	HEY1	chr2:87241863-87242277	HepG2	liver:	n/a	n/a
26	HEY1	chr2:87248819-87248982	HepG2	liver:	n/a	n/a
27	HEY1	chr2:87246079-87246733	HepG2	liver:	n/a	n/a
28	HEY1	chr2:87248682-87249313	HepG2	liver:	n/a	n/a
29	HEY1	chr2:87245453-87245967	HepG2	liver:	n/a	n/a
30	JUND	chr2:87248844-87249055	HepG2	liver:	n/a	n/a
31	JUND	chr2:87241963-87242253	HepG2	liver:	n/a	n/a
32	JUND	chr2:87246260-87246472	HepG2	liver:	n/a	n/a
33	JUND	chr2:87249987-87250215	HepG2	liver:	n/a	chr2:87250142-87250150
34	JUND	chr2:87246228-87246588	HepG2	liver:	n/a	n/a
35	JUND	chr2:87241922-87242278	HepG2	liver:	n/a	n/a
36	JUND	chr2:87240768-87240960	HepG2	liver:	n/a	n/a
37	JUND	chr2:87241658-87241879	HepG2	liver:	n/a	n/a
38	MYBL2	chr2:87241785-87242483	HepG2	liver:	n/a	n/a
39	NR3C1	chr2:87241494-87242312	A549	lung:	n/a	n/a
40	POLR2A	chr2:87240339-87240343	A549	lung:	n/a	n/a
41	POLR2A	chr2:87248825-87248999	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:87241870-87242054	A549	lung:	n/a	n/a
43	POLR2A	chr2:87240403-87240523	A549	lung:	n/a	n/a
44	POLR2A	chr2:87240215-87240334	A549	lung:	n/a	n/a
45	REST	chr2:87241890-87242199	HepG2	liver:	n/a	n/a
46	RXRA	chr2:87243805-87244077	HepG2	liver:	n/a	n/a
47	RXRA	chr2:87245661-87245846	HepG2	liver:	n/a	n/a
48	RXRA	chr2:87246200-87246688	HepG2	liver:	n/a	n/a
49	RXRA	chr2:87246089-87246623	HepG2	liver:	n/a	n/a
50	RXRA	chr2:87241526-87242480	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87246221-87246271	SK-N-SH	brain:	n/a
2	chr2:87246221-87246271	SKMC	muscle:	n/a
3	chr2:87246221-87246271	GM12878	blood:	n/a
4	chr2:87246221-87246271	BE2_C	brain:	n/a
5	chr2:87246221-87246271	PrEC	prostate:	n/a
6	chr2:87238274-87238324	HAEpiC	amniotic membrane:	n/a
7	chr2:87246221-87246271	HAEpiC	amniotic membrane:	n/a
8	chr2:87238274-87238324	NHBE	bronchial:	n/a
9	chr2:87246221-87246271	AG09309	skin:	n/a
10	chr2:87246221-87246271	HIPEpiC	eye:	n/a
11	chr2:87246221-87246271	H1-hESC	embryonic stem cell:	embryo
12	chr2:87246221-87246271	GM12891	blood:	n/a
13	chr2:87238274-87238324	GM06990	blood:	n/a
14	chr2:87238274-87238324	HRE	kidney:	n/a
15	chr2:87238274-87238324	A549	lung:	n/a
16	chr2:87238274-87238324	U87	brain:	n/a
17	chr2:87246221-87246271	LNCaP	prostate:	n/a
18	chr2:87238274-87238324	Caco-2	colon:	n/a
19	chr2:87246221-87246271	MCF10A-Er-Src	breast:	n/a
20	chr2:87246221-87246271	RPTEC	kidney:	n/a
21	chr2:87238274-87238324	AG04450	lung:	fetal
22	chr2:87238274-87238324	AoSMC	blood vessel:	n/a
23	chr2:87246221-87246271	AG04449	skin:	fetal
24	chr2:87246221-87246271	HRCEpiC	kidney:	n/a
25	chr2:87246221-87246271	Jurkat	blood:	n/a
26	chr2:87238274-87238324	PANC-1	pancreas:	n/a
27	chr2:87246221-87246271	HCPEpiC	choroid plexus:	n/a
28	chr2:87238274-87238324	HEEpiC	esophagus:	n/a
29	chr2:87238274-87238324	SKMC	muscle:	n/a
30	chr2:87246221-87246271	BJ	skin:	n/a
31	chr2:87238274-87238324	CMK	blood:	n/a
32	chr2:87238274-87238324	GM12878	blood:	n/a
33	chr2:87238274-87238324	HCM	heart:	n/a
34	chr2:87238274-87238324	Hepatocyte	liver:	n/a
35	chr2:87246221-87246271	NHDF-neo	bronchial:	n/a
36	chr2:87246221-87246271	ProgFib	skin:	n/a
37	chr2:87238274-87238324	HNPCEpiC	eye:	n/a
38	chr2:87246221-87246271	HepG2	liver:	n/a
39	chr2:87246221-87246271	GM12892	blood:	n/a
40	chr2:87238274-87238324	BJ	skin:	n/a
41	chr2:87246221-87246271	GM06990	blood:	n/a
42	chr2:87238274-87238324	ProgFib	skin:	n/a
43	chr2:87246221-87246271	HMEC	breast:	n/a
44	chr2:87238274-87238324	BE2_C	brain:	n/a
45	chr2:87246221-87246271	AG09319	gingival:	n/a
46	chr2:87238274-87238324	HEK293	kidney:	embryo
47	chr2:87246221-87246271	ECC-1	luminal epithelium:	n/a
48	chr2:87246221-87246271	T-47D	breast:	n/a
49	chr2:87238274-87238324	HIPEpiC	eye:	n/a
50	chr2:87238274-87238324	RPTEC	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD8B-3	chr2:87244676-87245831	NONHSAT072124
2	lnc-CD8B-3	chr2:87239425-87240242	NONHSAT072124
3	lnc-CD8B-3	chr2:87243425-87243531	NONHSAT072124

No data

Variant related genes	Relation type
PLGLB1	TF binding region
PLGLB1	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62148336	chr2:87239696-87239697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs1586	chr2:87239747-87239748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1588	chr2:87239825-87239826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569652337	chr2:87240080-87240081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536926720	chr2:87240087-87240088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548955350	chr2:87240117-87240118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567446365	chr2:87240134-87240135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534479164	chr2:87240137-87240138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201498783	chr2:87243445-87243446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs199807815	chr2:87243478-87243479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs199986885	chr2:87243501-87243502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555266997	chr2:87243518-87243519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs202013509	chr2:87244806-87244807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201085460	chr2:87244921-87244922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536261474	chr2:87245515-87245516	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs372849384	chr2:87245549-87245550	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554255160	chr2:87246170-87246171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377440834	chr2:87246194-87246195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567184425	chr2:87246222-87246223	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs370594996	chr2:87246237-87246238	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs377236677	chr2:87246241-87246242	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs2138304	chr2:87246280-87246281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs534223188	chr2:87246485-87246486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558766876	chr2:87246491-87246492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577034024	chr2:87246518-87246519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544354263	chr2:87246578-87246579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200611872	chr2:87246586-87246587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201581110	chr2:87246609-87246610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62148342	chr2:87246686-87246687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs367587311	chr2:87248068-87248069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371464997	chr2:87248101-87248102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528429856	chr2:87248111-87248112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540521478	chr2:87248186-87248187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565134790	chr2:87248320-87248321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532348860	chr2:87248350-87248351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550762636	chr2:87248367-87248368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569010023	chr2:87248429-87248430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529735224	chr2:87248451-87248452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112428780	chr2:87248461-87248462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566335227	chr2:87248788-87248789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533741962	chr2:87248840-87248841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558829030	chr2:87248903-87248904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570782885	chr2:87248917-87248918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62148344	chr2:87249059-87249060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538064050	chr2:87249134-87249135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556322041	chr2:87249139-87249140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574905386	chr2:87249163-87249164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541952652	chr2:87249225-87249226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111706611	chr2:87249335-87249336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529837635	chr2:87249993-87249994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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