Variant report

Variant	nsv961430
Chromosome Location	chr2:87113549-87140942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:87139150-87139771	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:87127838-87128027	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:87115235-87115769	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:87115244-87115439	K562	blood:	n/a	n/a
5	CEBPB	chr2:87115240-87115599	A549	lung:	n/a	n/a
6	CTCF	chr2:87127860-87128010	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr2:87127880-87128030	HCM	heart:	n/a	n/a
8	CTCF	chr2:87127919-87128068	GM13976	blood:	n/a	n/a
9	CTCF	chr2:87127860-87128010	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr2:87127860-87128010	Caco-2	colon:	n/a	n/a
11	CTCF	chr2:87127860-87128010	BJ	skin:	n/a	n/a
12	CTCF	chr2:87127880-87128030	NB4	blood:	n/a	n/a
13	CTCF	chr2:87127919-87128091	Fibrobl	skin:	n/a	n/a
14	CTCF	chr2:87127896-87128086	ProgFib	skin:	n/a	n/a
15	CTCF	chr2:87127860-87128010	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr2:87127943-87127960	GM13977	blood:	n/a	n/a
17	CTCF	chr2:87127967-87128018	GM12892	blood:	n/a	n/a
18	CTCF	chr2:87128000-87128150	AG04450	lung:	n/a	n/a
19	CTCF	chr2:87127903-87128100	LNCaP	prostate:	n/a	n/a
20	CTCF	chr2:87127900-87128050	HAc	cerebellar:	n/a	n/a
21	CTCF	chr2:87127860-87128010	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr2:87127892-87128091	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:87127860-87128010	HCFaa	heart:	n/a	n/a
24	CTCF	chr2:87127894-87128085	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:87127980-87128130	BJ	skin:	n/a	n/a
26	CTCF	chr2:87127898-87128064	NHEK	skin:	n/a	n/a
27	CTCF	chr2:87127847-87128117	K562	blood:	n/a	n/a
28	CTCF	chr2:87127884-87128078	A549	lung:	n/a	n/a
29	CTCF	chr2:87121271-87121380	GM10248	blood:	n/a	n/a
30	CTCF	chr2:87127907-87128075	LNCaP	prostate:	n/a	n/a
31	CTCF	chr2:87127860-87128054	A549	lung:	n/a	n/a
32	CTCF	chr2:87114715-87114818	GM20000	blood:	n/a	n/a
33	CTCF	chr2:87127860-87128010	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr2:87127860-87128010	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr2:87127980-87128130	WI-38	lung:	n/a	n/a
36	CTCF	chr2:87127817-87128188	K562	blood:	n/a	n/a
37	CTCF	chr2:87127860-87128010	GM12875	blood:	n/a	n/a
38	CTCF	chr2:87127852-87128108	A549	lung:	n/a	n/a
39	CTCF	chr2:87127880-87128099	Gliobla	brain:	n/a	n/a
40	CTCF	chr2:87127933-87128056	GM10266	blood:	n/a	n/a
41	CTCF	chr2:87124027-87124136	GM13976	blood:	n/a	n/a
42	CTCF	chr2:87127931-87128027	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr2:87127880-87128030	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr2:87127920-87128070	HRE	kidney:	n/a	n/a
45	CTCF	chr2:87127894-87128066	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr2:87127947-87128015	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:87127980-87128130	AG09319	gingival:	n/a	n/a
48	CTCF	chr2:87127916-87128079	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:87127980-87128130	HMF	breast:	n/a	n/a
50	CTCF	chr2:87127980-87128130	HCPEpiC	choroid plexus:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87137561-87137611	HCF	heart:	n/a
2	chr2:87140806-87140856	HCPEpiC	choroid plexus:	n/a
3	chr2:87137561-87137611	HEK293	kidney:	embryo
4	chr2:87137561-87137611	AoSMC	blood vessel:	n/a
5	chr2:87140809-87140859	GM12878	blood:	n/a
6	chr2:87140806-87140856	HL-60	blood:	n/a
7	chr2:87140809-87140859	NB4	blood:	n/a
8	chr2:87137561-87137611	AG09309	skin:	n/a
9	chr2:87140806-87140856	AG09319	gingival:	n/a
10	chr2:87140806-87140856	AG09309	skin:	n/a
11	chr2:87137561-87137611	HCPEpiC	choroid plexus:	n/a
12	chr2:87140809-87140859	H1-hESC	embryonic stem cell:	embryo
13	chr2:87140809-87140859	Caco-2	colon:	n/a
14	chr2:87140809-87140859	HEK293	kidney:	embryo
15	chr2:87140809-87140859	PANC-1	pancreas:	n/a
16	chr2:87140806-87140856	NH-A	brain:	n/a
17	chr2:87137561-87137611	NH-A	brain:	n/a
18	chr2:87140809-87140859	HRE	kidney:	n/a
19	chr2:87137561-87137611	LNCaP	prostate:	n/a
20	chr2:87137561-87137611	AG10803	skin:	n/a
21	chr2:87140809-87140859	A549	lung:	n/a
22	chr2:87140809-87140859	GM06990	blood:	n/a
23	chr2:87140806-87140856	MCF-7	breast:	n/a
24	chr2:87137561-87137611	SK-N-SH	brain:	n/a
25	chr2:87137561-87137611	GM12878	blood:	n/a
26	chr2:87137561-87137611	HRE	kidney:	n/a
27	chr2:87140806-87140856	PANC-1	pancreas:	n/a
28	chr2:87140806-87140856	PFSK-1	brain:	n/a
29	chr2:87140809-87140859	HNPCEpiC	eye:	n/a
30	chr2:87140806-87140856	Hela-S3	cervix:	n/a
31	chr2:87140809-87140859	HCM	heart:	n/a
32	chr2:87137561-87137611	H1-hESC	embryonic stem cell:	embryo
33	chr2:87140806-87140856	BJ	skin:	n/a
34	chr2:87137561-87137611	HRPEpiC	eye:	n/a
35	chr2:87137561-87137611	ovcar-3	ovarian:	n/a
36	chr2:87140809-87140859	SK-N-MC	brain:	n/a
37	chr2:87140809-87140859	MCF-7	breast:	n/a
38	chr2:87140809-87140859	HCF	heart:	n/a
39	chr2:87137561-87137611	RPTEC	kidney:	n/a
40	chr2:87137561-87137611	Hepatocyte	liver:	n/a
41	chr2:87140806-87140856	SKMC	muscle:	n/a
42	chr2:87140809-87140859	ovcar-3	ovarian:	n/a
43	chr2:87137561-87137611	ProgFib	skin:	n/a
44	chr2:87140809-87140859	Jurkat	blood:	n/a
45	chr2:87140809-87140859	SAEC	small airway:	n/a
46	chr2:87137561-87137611	Hela-S3	cervix:	n/a
47	chr2:87140809-87140859	AG10803	skin:	n/a
48	chr2:87140806-87140856	ECC-1	luminal epithelium:	n/a
49	chr2:87137561-87137611	SK-N-SH_RA	brain:	n/a
50	chr2:87140809-87140859	BJ	skin:	n/a

No data

Variant related genes	Relation type
RGPD1	TF binding region
ENSG00000213605	TF binding region
RGPD1	CpG island
ENSG00000213605	CpG island

Extended variants
information (count: 157 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544185757	chr2:87113625-87113626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114823415	chr2:87113669-87113670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374869150	chr2:87114739-87114740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554099149	chr2:87114752-87114753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528839617	chr2:87114927-87114928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541363556	chr2:87114967-87114968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559615549	chr2:87115022-87115023	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533375871	chr2:87115037-87115038	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551543567	chr2:87115053-87115054	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200531159	chr2:87115065-87115066	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531037989	chr2:87115077-87115078	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549169661	chr2:87115082-87115083	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567692454	chr2:87115116-87115117	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372580166	chr2:87115120-87115121	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535014769	chr2:87115294-87115295	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs554139884	chr2:87115374-87115375	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565968015	chr2:87115404-87115405	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563959046	chr2:87115416-87115417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539711597	chr2:87115422-87115423	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531118057	chr2:87115425-87115426	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574586850	chr2:87115427-87115428	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs11886787	chr2:87115469-87115470	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs576107817	chr2:87115492-87115493	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537156734	chr2:87115510-87115511	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183203557	chr2:87115532-87115533	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573625232	chr2:87115546-87115547	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540601714	chr2:87115547-87115548	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559654690	chr2:87115601-87115602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188087779	chr2:87115693-87115694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs58540921	chr2:87115743-87115744	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528531593	chr2:87115971-87115972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547034498	chr2:87116064-87116065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571643242	chr2:87116192-87116193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373115533	chr2:87116218-87116219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539746157	chr2:87116222-87116223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185328695	chr2:87116262-87116263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546760470	chr2:87116291-87116292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569869868	chr2:87116313-87116314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187527016	chr2:87116336-87116337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192431002	chr2:87116346-87116347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573386328	chr2:87116358-87116359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534377932	chr2:87116384-87116385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552570695	chr2:87116410-87116411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs536952098	chr2:87123509-87123510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533222494	chr2:87123534-87123535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551306441	chr2:87123540-87123541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185845500	chr2:87123623-87123624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369966586	chr2:87123647-87123648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555033844	chr2:87123760-87123761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566968503	chr2:87123783-87123784	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87115000-87115600	Active TSS	Hela-S3	cervix
2	chr2:87123400-87123800	Enhancers	Thymus	Thymus
3	chr2:87123400-87125000	Enhancers	Fetal Thymus	thymus
4	chr2:87137400-87137800	Enhancers	HepG2	liver
5	chr2:87140600-87141000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:87140600-87141200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:87140600-87141200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:87140600-87141200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:87140800-87141200	Active TSS	Placenta	Placenta

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