Variant report

Variant	nsv10087
Chromosome Location	chr2:95340538-95413280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:95350794-95351086	GM12878	blood:	n/a	chr2:95350961-95350971 chr2:95350965-95350975
2	CEBPD	chr2:95410683-95411224	K562	blood:	n/a	n/a
3	CTCF	chr2:95412298-95412346	GM13976	blood:	n/a	n/a
4	CTCF	chr2:95402961-95403191	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:95401567-95401625	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:95402948-95403274	K562	blood:	n/a	n/a
7	CTCF	chr2:95402988-95403154	A549	lung:	n/a	n/a
8	CTCF	chr2:95401510-95401625	GM19239	blood:	n/a	n/a
9	CTCF	chr2:95402920-95403070	K562	blood:	n/a	n/a
10	CTCF	chr2:95401471-95401646	Medullo	brain:	n/a	n/a
11	CTCF	chr2:95403000-95403150	HepG2	liver:	n/a	n/a
12	CTCF	chr2:95400347-95400365	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr2:95403054-95403087	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:95401660-95401810	HEK293	kidney:	n/a	n/a
15	CTCF	chr2:95401473-95401663	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr2:95403000-95403150	K562	blood:	n/a	n/a
17	CTCF	chr2:95402963-95403230	K562	blood:	n/a	n/a
18	CTCF	chr2:95402920-95403070	BE2_C	brain:	n/a	n/a
19	CTCF	chr2:95351017-95351054	GM10248	blood:	n/a	n/a
20	CTCF	chr2:95401489-95401617	GM19238	blood:	n/a	n/a
21	CTCF	chr2:95403016-95403096	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr2:95403055-95403083	HepG2	liver:	n/a	n/a
23	CTCF	chr2:95402973-95403147	K562	blood:	n/a	n/a
24	CTCF	chr2:95373826-95373887	GM13976	blood:	n/a	n/a
25	CTCF	chr2:95401347-95401678	K562	blood:	n/a	n/a
26	CTCF	chr2:95401340-95401490	RPTEC	kidney:	n/a	n/a
27	CTCF	chr2:95402962-95403331	K562	blood:	n/a	n/a
28	CTCF	chr2:95402982-95403159	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:95401562-95401620	GM10266	blood:	n/a	n/a
30	CTCF	chr2:95402960-95403110	A549	lung:	n/a	n/a
31	CTCF	chr2:95369698-95369761	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:95402884-95403183	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:95401478-95401658	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:95402982-95403174	HepG2	liver:	n/a	n/a
35	CTCF	chr2:95401510-95401606	Lung_OC	lung:	n/a	n/a
36	CTCF	chr2:95403001-95403134	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:95402920-95403070	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:95401459-95401637	K562	blood:	n/a	n/a
39	CTCF	chr2:95391380-95391530	K562	blood:	n/a	n/a
40	CTCF	chr2:95402884-95403257	K562	blood:	n/a	n/a
41	CTCF	chr2:95401476-95401671	A549	lung:	n/a	n/a
42	CTCF	chr2:95350837-95350897	A549	lung:	n/a	n/a
43	CTCF	chr2:95401483-95401624	K562	blood:	n/a	n/a
44	CTCF	chr2:95411015-95411060	GM13976	blood:	n/a	n/a
45	CTCF	chr2:95402974-95403167	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:95401340-95401490	HRE	kidney:	n/a	n/a
47	CTCF	chr2:95402980-95403130	HepG2	liver:	n/a	n/a
48	CTCF	chr2:95401502-95401653	GM12891	blood:	n/a	n/a
49	CTCF	chr2:95412700-95412748	Lung_OC	lung:	n/a	n/a
50	CTCF	chr2:95402920-95403070	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:95403737-95403787	GM19239	blood:	n/a
2	chr2:95398021-95398071	HEEpiC	esophagus:	n/a
3	chr2:95403063-95403113	H1-hESC	embryonic stem cell:	embryo
4	chr2:95398021-95398071	AG04450	lung:	fetal
5	chr2:95401381-95401431	HRPEpiC	eye:	n/a
6	chr2:95403737-95403787	AG09319	gingival:	n/a
7	chr2:95400764-95400814	IMR90	lung:	fetal
8	chr2:95403063-95403113	HIPEpiC	eye:	n/a
9	chr2:95401381-95401431	MCF10A-Er-Src	breast:	n/a
10	chr2:95403063-95403113	HAEpiC	amniotic membrane:	n/a
11	chr2:95403063-95403113	ECC-1	luminal epithelium:	n/a
12	chr2:95400764-95400814	HIPEpiC	eye:	n/a
13	chr2:95403063-95403113	GM12891	blood:	n/a
14	chr2:95400764-95400814	H1-hESC	embryonic stem cell:	embryo
15	chr2:95403737-95403787	NT2-D1	testis:	n/a
16	chr2:95398021-95398071	HIPEpiC	eye:	n/a
17	chr2:95400764-95400814	NB4	blood:	n/a
18	chr2:95403737-95403787	MCF-7	breast:	n/a
19	chr2:95401381-95401431	AG04450	lung:	fetal
20	chr2:95401381-95401431	HCPEpiC	choroid plexus:	n/a
21	chr2:95401381-95401431	HEK293	kidney:	embryo
22	chr2:95403737-95403787	AG04449	skin:	fetal
23	chr2:95398021-95398071	GM19239	blood:	n/a
24	chr2:95403063-95403113	SKMC	muscle:	n/a
25	chr2:95403063-95403113	HUVEC	blood vessel:	n/a
26	chr2:95398021-95398071	HNPCEpiC	eye:	n/a
27	chr2:95400764-95400814	BJ	skin:	n/a
28	chr2:95403063-95403113	Caco-2	colon:	n/a
29	chr2:95403063-95403113	HRCEpiC	kidney:	n/a
30	chr2:95403063-95403113	Hepatocyte	liver:	n/a
31	chr2:95403063-95403113	PANC-1	pancreas:	n/a
32	chr2:95398021-95398071	AG04449	skin:	fetal
33	chr2:95403737-95403787	SKMC	muscle:	n/a
34	chr2:95403737-95403787	GM12892	blood:	n/a
35	chr2:95398021-95398071	Hepatocyte	liver:	n/a
36	chr2:95401381-95401431	GM12878	blood:	n/a
37	chr2:95398021-95398071	AoSMC	blood vessel:	n/a
38	chr2:95400764-95400814	PANC-1	pancreas:	n/a
39	chr2:95400764-95400814	HEK293	kidney:	embryo
40	chr2:95398021-95398071	AG09319	gingival:	n/a
41	chr2:95400764-95400814	Caco-2	colon:	n/a
42	chr2:95401381-95401431	GM06990	blood:	n/a
43	chr2:95403737-95403787	Caco-2	colon:	n/a
44	chr2:95401381-95401431	ovcar-3	ovarian:	n/a
45	chr2:95403063-95403113	HepG2	liver:	n/a
46	chr2:95400764-95400814	HEEpiC	esophagus:	n/a
47	chr2:95400764-95400814	HCPEpiC	choroid plexus:	n/a
48	chr2:95403737-95403787	PANC-1	pancreas:	n/a
49	chr2:95400764-95400814	PFSK-1	brain:	n/a
50	chr2:95400764-95400814	NH-A	brain:	n/a

No data

Variant related genes	Relation type
CNN2P8	TF binding region
CNN2P11	TF binding region
ENSG00000234837	TF binding region
ENSG00000227265	TF binding region
CNN2P8	CpG island
CNN2P11	CpG island
ENSG00000234837	CpG island
ENSG00000227265	CpG island

Extended variants
information (count: 317 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10184908	chr2:95391243-95391244	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566526931	chr2:95391266-95391267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77305441	chr2:95391342-95391343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs36065156	chr2:95391361-95391362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533573603	chr2:95391372-95391373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561603880	chr2:95391381-95391382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573442333	chr2:95391387-95391388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552178326	chr2:95391393-95391394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570097408	chr2:95391407-95391408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538986825	chr2:95391421-95391422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540853214	chr2:95391442-95391443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564929855	chr2:95391451-95391452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557226203	chr2:95391458-95391459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575434891	chr2:95391464-95391465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536810512	chr2:95391471-95391472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532221445	chr2:95391483-95391484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573317873	chr2:95391486-95391487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550447238	chr2:95391496-95391497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540358186	chr2:95391500-95391501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373632238	chr2:95391506-95391507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79316637	chr2:95391530-95391531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544522189	chr2:95391535-95391536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562732383	chr2:95391541-95391542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529864126	chr2:95391554-95391555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562481053	chr2:95391557-95391558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs13389674	chr2:95391568-95391569	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183045237	chr2:95391570-95391571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551845631	chr2:95391575-95391576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570157295	chr2:95391579-95391580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562454904	chr2:95393999-95394000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs146219357	chr2:95394011-95394012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564728162	chr2:95394055-95394056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531954698	chr2:95394112-95394113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550075234	chr2:95394212-95394213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562284901	chr2:95394224-95394225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs365712	chr2:95398090-95398091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189763664	chr2:95398091-95398092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs559780632	chr2:95398109-95398110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12328674	chr2:95398156-95398157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143647858	chr2:95398171-95398172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556145600	chr2:95398651-95398652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200529833	chr2:95398657-95398658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574589293	chr2:95398660-95398661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541631156	chr2:95398676-95398677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3896173	chr2:95398725-95398726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372383939	chr2:95398747-95398748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368646603	chr2:95398775-95398776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559892687	chr2:95398779-95398780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371681833	chr2:95398827-95398828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375439954	chr2:95398855-95398856	Inactive region	TF binding region	1 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95391200-95391600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:95400600-95401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:95401200-95402400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:95401400-95401600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:95401400-95402000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:95402800-95403000	Enhancers	K562	blood

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