Variant report

Variant	nsv979226
Chromosome Location	chr2:95401169-95404486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:95403001-95403134	MCF-7	breast:	n/a	n/a
2	CTCF	chr2:95402980-95403130	HCT-116	colon:	n/a	n/a
3	CTCF	chr2:95402884-95403183	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:95401495-95401631	GM12892	blood:	n/a	n/a
5	CTCF	chr2:95402934-95403163	HepG2	liver:	n/a	n/a
6	CTCF	chr2:95401460-95401686	Fibrobl	skin:	n/a	n/a
7	CTCF	chr2:95401458-95401665	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr2:95401476-95401671	A549	lung:	n/a	n/a
9	CTCF	chr2:95401478-95401658	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:95401533-95401655	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr2:95401510-95401606	Lung_OC	lung:	n/a	n/a
12	CTCF	chr2:95402960-95403110	A549	lung:	n/a	n/a
13	CTCF	chr2:95403054-95403087	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:95402930-95403136	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:95401567-95401625	LNCaP	prostate:	n/a	n/a
16	CTCF	chr2:95402980-95403130	HepG2	liver:	n/a	n/a
17	CTCF	chr2:95402963-95403230	K562	blood:	n/a	n/a
18	CTCF	chr2:95401489-95401617	GM19238	blood:	n/a	n/a
19	CTCF	chr2:95402973-95403147	K562	blood:	n/a	n/a
20	CTCF	chr2:95401476-95401654	ProgFib	skin:	n/a	n/a
21	CTCF	chr2:95401560-95401710	GM06990	blood:	n/a	n/a
22	CTCF	chr2:95402920-95403070	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:95401347-95401678	K562	blood:	n/a	n/a
24	CTCF	chr2:95401320-95401470	GM12873	blood:	n/a	n/a
25	CTCF	chr2:95402920-95403070	K562	blood:	n/a	n/a
26	CTCF	chr2:95402982-95403174	HepG2	liver:	n/a	n/a
27	CTCF	chr2:95402988-95403154	A549	lung:	n/a	n/a
28	CTCF	chr2:95402961-95403191	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:95403016-95403096	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:95401540-95401690	GM12868	blood:	n/a	n/a
31	CTCF	chr2:95402990-95403144	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:95403000-95403150	HepG2	liver:	n/a	n/a
33	CTCF	chr2:95402920-95403070	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:95403055-95403083	HepG2	liver:	n/a	n/a
35	CTCF	chr2:95401562-95401620	GM10266	blood:	n/a	n/a
36	CTCF	chr2:95401553-95401605	GM13977	blood:	n/a	n/a
37	CTCF	chr2:95402962-95403331	K562	blood:	n/a	n/a
38	CTCF	chr2:95401473-95401663	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr2:95403000-95403150	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:95401510-95401625	GM19239	blood:	n/a	n/a
41	CTCF	chr2:95402884-95403257	K562	blood:	n/a	n/a
42	CTCF	chr2:95401340-95401490	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:95401471-95401646	Medullo	brain:	n/a	n/a
44	CTCF	chr2:95401660-95401810	HEK293	kidney:	n/a	n/a
45	CTCF	chr2:95401464-95401671	NHEK	skin:	n/a	n/a
46	CTCF	chr2:95401459-95401637	K562	blood:	n/a	n/a
47	CTCF	chr2:95401340-95401490	RPTEC	kidney:	n/a	n/a
48	CTCF	chr2:95402980-95403130	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:95402920-95403070	HCT-116	colon:	n/a	n/a
50	CTCF	chr2:95401340-95401490	HRE	kidney:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:95401381-95401431	HCM	heart:	n/a
2	chr2:95401381-95401431	HCM	heart:	n/a
3	chr2:95403737-95403787	U87	brain:	n/a
4	chr2:95403737-95403787	PFSK-1	brain:	n/a
5	chr2:95403063-95403113	PFSK-1	brain:	n/a
6	chr2:95401381-95401431	HRE	kidney:	n/a
7	chr2:95401381-95401431	PANC-1	pancreas:	n/a
8	chr2:95403063-95403113	ovcar-3	ovarian:	n/a
9	chr2:95401381-95401431	HIPEpiC	eye:	n/a
10	chr2:95403063-95403113	HCPEpiC	choroid plexus:	n/a
11	chr2:95401381-95401431	HL-60	blood:	n/a
12	chr2:95401381-95401431	HMEC	breast:	n/a
13	chr2:95403063-95403113	GM12878	blood:	n/a
14	chr2:95401381-95401431	ovcar-3	ovarian:	n/a
15	chr2:95403063-95403113	HRE	kidney:	n/a
16	chr2:95401381-95401431	HCPEpiC	choroid plexus:	n/a
17	chr2:95403737-95403787	Hela-S3	cervix:	n/a
18	chr2:95403737-95403787	HepG2	liver:	n/a
19	chr2:95401381-95401431	SKMC	muscle:	n/a
20	chr2:95403063-95403113	U87	brain:	n/a
21	chr2:95403063-95403113	NHBE	bronchial:	n/a
22	chr2:95401381-95401431	BE2_C	brain:	n/a
23	chr2:95403737-95403787	Jurkat	blood:	n/a
24	chr2:95401381-95401431	NH-A	brain:	n/a
25	chr2:95403737-95403787	HRCEpiC	kidney:	n/a
26	chr2:95403063-95403113	NT2-D1	testis:	n/a
27	chr2:95403063-95403113	SK-N-SH	brain:	n/a
28	chr2:95401381-95401431	NT2-D1	testis:	n/a
29	chr2:95403063-95403113	AG09309	skin:	n/a
30	chr2:95403063-95403113	Hepatocyte	liver:	n/a
31	chr2:95403063-95403113	IMR90	lung:	fetal
32	chr2:95401381-95401431	H1-hESC	embryonic stem cell:	embryo
33	chr2:95403737-95403787	HL-60	blood:	n/a
34	chr2:95403737-95403787	HAEpiC	amniotic membrane:	n/a
35	chr2:95401381-95401431	HCF	heart:	n/a
36	chr2:95401381-95401431	SK-N-SH_RA	brain:	n/a
37	chr2:95403737-95403787	Caco-2	colon:	n/a
38	chr2:95401381-95401431	ProgFib	skin:	n/a
39	chr2:95403063-95403113	HMEC	breast:	n/a
40	chr2:95403737-95403787	HCT-116	colon:	n/a
41	chr2:95401381-95401431	AG10803	skin:	n/a
42	chr2:95403737-95403787	IMR90	lung:	fetal
43	chr2:95401381-95401431	GM12878	blood:	n/a
44	chr2:95403737-95403787	HCF	heart:	n/a
45	chr2:95403737-95403787	HCM	heart:	n/a
46	chr2:95403063-95403113	AG09319	gingival:	n/a
47	chr2:95403063-95403113	Jurkat	blood:	n/a
48	chr2:95403063-95403113	HCM	heart:	n/a
49	chr2:95403063-95403113	AoSMC	blood vessel:	n/a
50	chr2:95403737-95403787	GM12878	blood:	n/a

No data

Variant related genes	Relation type
CNN2P8	TF binding region
ENSG00000227265	TF binding region
CNN2P8	CpG island
ENSG00000227265	CpG island

Extended variants
information (count: 147 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180966725	chr2:95401245-95401246	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs565727726	chr2:95401299-95401300	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs446751	chr2:95401301-95401302	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs453467	chr2:95401318-95401319	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs533103459	chr2:95401324-95401325	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566865064	chr2:95401377-95401378	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs446646	chr2:95401381-95401382	Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs551604780	chr2:95401409-95401410	Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs185912353	chr2:95401433-95401434	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537218338	chr2:95401442-95401443	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555194834	chr2:95401462-95401463	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567399837	chr2:95401487-95401488	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113203441	chr2:95401490-95401491	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534689463	chr2:95401497-95401498	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553042511	chr2:95401562-95401563	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs559159353	chr2:95401634-95401635	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs577705609	chr2:95401635-95401636	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs11896475	chr2:95401667-95401668	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs558389019	chr2:95401668-95401669	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs571081232	chr2:95401718-95401719	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs576576413	chr2:95401726-95401727	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs538400914	chr2:95401764-95401765	Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs369460894	chr2:95401851-95401852	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs562128474	chr2:95401855-95401856	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs371964427	chr2:95401911-95401912	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556465548	chr2:95401918-95401919	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs541124503	chr2:95401919-95401920	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs1746195	chr2:95401995-95401996	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs200980758	chr2:95402017-95402018	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs191605153	chr2:95402021-95402022	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201550693	chr2:95402071-95402072	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs112701895	chr2:95402091-95402092	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs200571325	chr2:95402101-95402102	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs1746193	chr2:95402113-95402114	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs200125322	chr2:95402123-95402124	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs200748756	chr2:95402146-95402147	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs574719804	chr2:95402164-95402165	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs369167700	chr2:95402208-95402209	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs1746192	chr2:95402218-95402219	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541520874	chr2:95402233-95402234	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs141828540	chr2:95402234-95402235	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181316154	chr2:95402235-95402236	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs372944580	chr2:95402252-95402253	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs545483547	chr2:95402298-95402299	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115939987	chr2:95402303-95402304	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs1746191	chr2:95402306-95402307	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs564375463	chr2:95402357-95402358	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs186370478	chr2:95402365-95402366	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs117041292	chr2:95402816-95402817	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs142166818	chr2:95402828-95402829	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Breast cancer	21785460	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95401200-95402400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:95401400-95401600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:95401400-95402000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:95402800-95403000	Enhancers	K562	blood

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