Variant report

Variant	nsv874474
Chromosome Location	chr2:87108211-87179612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:570)
CpG islands
(count:855)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:87175466-87175692	GM12878	blood:	n/a	n/a
2	BATF	chr2:87173943-87174225	GM12878	blood:	n/a	n/a
3	BATF	chr2:87175080-87175332	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:87173900-87174131	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:87175051-87175280	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:87139150-87139771	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:87148865-87149486	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:87175133-87175338	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:87179250-87179502	HepG2	liver:	n/a	n/a
10	BHLHE40	chr2:87127838-87128027	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:87170080-87170298	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:87156441-87156552	HepG2	liver:	n/a	chr2:87156493-87156504
13	CEBPB	chr2:87115240-87115599	A549	lung:	n/a	n/a
14	CEBPB	chr2:87115235-87115769	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:87115244-87115439	K562	blood:	n/a	n/a
16	CEBPB	chr2:87156331-87156654	HepG2	liver:	n/a	chr2:87156493-87156504
17	CEBPB	chr2:87163148-87163254	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:87142393-87142608	A549	lung:	n/a	chr2:87142537-87142546 chr2:87142537-87142546
19	CTCF	chr2:87127893-87128161	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:87127852-87128108	A549	lung:	n/a	n/a
21	CTCF	chr2:87127880-87128030	HMEC	breast:	n/a	n/a
22	CTCF	chr2:87127892-87128091	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:87127860-87128010	NHEK	skin:	n/a	n/a
24	CTCF	chr2:87127813-87128149	A549	lung:	n/a	n/a
25	CTCF	chr2:87175075-87175446	A549	lung:	n/a	n/a
26	CTCF	chr2:87127860-87128010	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:87127980-87128130	BJ	skin:	n/a	n/a
28	CTCF	chr2:87175600-87175636	A549	lung:	n/a	n/a
29	CTCF	chr2:87175161-87175392	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:87127880-87128099	Gliobla	brain:	n/a	n/a
31	CTCF	chr2:87127844-87128144	K562	blood:	n/a	n/a
32	CTCF	chr2:87175578-87175688	GM19240	blood:	n/a	n/a
33	CTCF	chr2:87127860-87128010	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr2:87127920-87128070	HRE	kidney:	n/a	n/a
35	CTCF	chr2:87175212-87175379	Medullo	brain:	n/a	n/a
36	CTCF	chr2:87127844-87128076	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr2:87175593-87175751	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr2:87174791-87176015	A549	lung:	n/a	n/a
39	CTCF	chr2:87127860-87128010	AG09319	gingival:	n/a	n/a
40	CTCF	chr2:87127817-87128188	K562	blood:	n/a	n/a
41	CTCF	chr2:87175085-87175421	K562	blood:	n/a	n/a
42	CTCF	chr2:87127860-87128010	AG04449	skin:	n/a	n/a
43	CTCF	chr2:87170684-87170741	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:87127967-87128018	GM12892	blood:	n/a	n/a
45	CTCF	chr2:87127980-87128130	AG09309	skin:	n/a	n/a
46	CTCF	chr2:87127960-87128110	HMF	breast:	n/a	n/a
47	CTCF	chr2:87175288-87175303	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr2:87127932-87128092	K562	blood:	n/a	n/a
49	CTCF	chr2:87175584-87175683	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:87175201-87175343	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87141088-87141138	PrEC	prostate:	n/a
2	chr2:87141088-87141138	PrEC	prostate:	n/a
3	chr2:87157745-87157795	NB4	blood:	n/a
4	chr2:87137561-87137611	Hela-S3	cervix:	n/a
5	chr2:87170602-87170652	HMEC	breast:	n/a
6	chr2:87140809-87140859	NB4	blood:	n/a
7	chr2:87170602-87170652	BJ	skin:	n/a
8	chr2:87170602-87170652	IMR90	lung:	fetal
9	chr2:87157227-87157277	HCM	heart:	n/a
10	chr2:87170602-87170652	AG04449	skin:	fetal
11	chr2:87161889-87161939	NH-A	brain:	n/a
12	chr2:87141088-87141138	MCF10A-Er-Src	breast:	n/a
13	chr2:87157745-87157795	BE2_C	brain:	n/a
14	chr2:87140809-87140859	HL-60	blood:	n/a
15	chr2:87157745-87157795	Hela-S3	cervix:	n/a
16	chr2:87157804-87157854	NHDF-neo	bronchial:	n/a
17	chr2:87170602-87170652	ECC-1	luminal epithelium:	n/a
18	chr2:87157804-87157854	Hela-S3	cervix:	n/a
19	chr2:87157547-87157597	NH-A	brain:	n/a
20	chr2:87140806-87140856	HRCEpiC	kidney:	n/a
21	chr2:87157547-87157597	ProgFib	skin:	n/a
22	chr2:87140809-87140859	HEEpiC	esophagus:	n/a
23	chr2:87157804-87157854	AoSMC	blood vessel:	n/a
24	chr2:87157227-87157277	HCPEpiC	choroid plexus:	n/a
25	chr2:87157547-87157597	RPTEC	kidney:	n/a
26	chr2:87157227-87157277	ECC-1	luminal epithelium:	n/a
27	chr2:87169392-87169442	AG09309	skin:	n/a
28	chr2:87157745-87157795	RPTEC	kidney:	n/a
29	chr2:87169392-87169442	HepG2	liver:	n/a
30	chr2:87140809-87140859	IMR90	lung:	fetal
31	chr2:87157745-87157795	NHDF-neo	bronchial:	n/a
32	chr2:87161889-87161939	AG09309	skin:	n/a
33	chr2:87169392-87169442	AG09319	gingival:	n/a
34	chr2:87161889-87161939	HCF	heart:	n/a
35	chr2:87161889-87161939	AG04449	skin:	fetal
36	chr2:87137561-87137611	NT2-D1	testis:	n/a
37	chr2:87169982-87170032	GM06990	blood:	n/a
38	chr2:87142071-87142121	HCPEpiC	choroid plexus:	n/a
39	chr2:87169982-87170032	Hepatocyte	liver:	n/a
40	chr2:87157804-87157854	HAEpiC	amniotic membrane:	n/a
41	chr2:87140806-87140856	T-47D	breast:	n/a
42	chr2:87161889-87161939	HL-60	blood:	n/a
43	chr2:87141088-87141138	U87	brain:	n/a
44	chr2:87157547-87157597	AG09309	skin:	n/a
45	chr2:87169982-87170032	SKMC	muscle:	n/a
46	chr2:87169999-87170049	BE2_C	brain:	n/a
47	chr2:87157804-87157854	Jurkat	blood:	n/a
48	chr2:87170602-87170652	H1-hESC	embryonic stem cell:	embryo
49	chr2:87140809-87140859	RPTEC	kidney:	n/a
50	chr2:87170602-87170652	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLGLB1-2	chr2:87161585-87161945	NONHSAT072123

No data

Variant related genes	Relation type
RGPD1	TF binding region
ENSG00000213605	TF binding region
ENSG00000231351	TF binding region
ENSG00000226114	TF binding region
RGPD1	CpG island
ENSG00000213605	CpG island
ENSG00000231351	CpG island
ENSG00000226114	CpG island

Extended variants
information (count: 995 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:995 , 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	rs181153197	chr2:87113177-87113178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560188492	chr2:87113199-87113200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113040270	chr2:87113227-87113228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552219605	chr2:87113277-87113278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530573445	chr2:87113281-87113282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570434483	chr2:87113282-87113283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538542636	chr2:87113304-87113305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147791706	chr2:87113348-87113349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568605294	chr2:87113353-87113354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs536047146	chr2:87113359-87113360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554005060	chr2:87113407-87113408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572193728	chr2:87113433-87113434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62147416	chr2:87113435-87113436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557749442	chr2:87113504-87113505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575980098	chr2:87113509-87113510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567311824	chr2:87113544-87113545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544185757	chr2:87113625-87113626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs114823415	chr2:87113669-87113670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374869150	chr2:87114739-87114740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554099149	chr2:87114752-87114753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528839617	chr2:87114927-87114928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541363556	chr2:87114967-87114968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559615549	chr2:87115022-87115023	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533375871	chr2:87115037-87115038	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551543567	chr2:87115053-87115054	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200531159	chr2:87115065-87115066	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531037989	chr2:87115077-87115078	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549169661	chr2:87115082-87115083	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567692454	chr2:87115116-87115117	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372580166	chr2:87115120-87115121	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535014769	chr2:87115294-87115295	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs554139884	chr2:87115374-87115375	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565968015	chr2:87115404-87115405	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs563959046	chr2:87115416-87115417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539711597	chr2:87115422-87115423	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531118057	chr2:87115425-87115426	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs574586850	chr2:87115427-87115428	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11886787	chr2:87115469-87115470	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576107817	chr2:87115492-87115493	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537156734	chr2:87115510-87115511	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183203557	chr2:87115532-87115533	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573625232	chr2:87115546-87115547	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540601714	chr2:87115547-87115548	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559654690	chr2:87115601-87115602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs188087779	chr2:87115693-87115694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs58540921	chr2:87115743-87115744	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528531593	chr2:87115971-87115972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547034498	chr2:87116064-87116065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571643242	chr2:87116192-87116193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs373115533	chr2:87116218-87116219	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 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
10	chr2:87141000-87141400	Active TSS	Left Ventricle	heart
11	chr2:87141000-87141400	Active TSS	Ovary	ovary
12	chr2:87141000-87142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:87141200-87142000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:87141200-87142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:87141200-87142000	Weak transcription	Placenta	Placenta
16	chr2:87142000-87142400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:87142000-87142400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:87142000-87142400	Active TSS	Placenta	Placenta
19	chr2:87142000-87142600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:87142200-87142400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:87142200-87142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:87142400-87173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:87142600-87171600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:87154400-87155600	Weak transcription	HepG2	liver
25	chr2:87155600-87156800	Enhancers	HepG2	liver
26	chr2:87169400-87171000	Weak transcription	Placenta	Placenta
27	chr2:87171000-87172400	Strong transcription	Placenta	Placenta
28	chr2:87171000-87173000	Enhancers	Fetal Thymus	thymus
29	chr2:87171600-87171800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:87171800-87173800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:87172400-87174000	Weak transcription	Placenta	Placenta
32	chr2:87174800-87175000	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links