Variant report

Variant	nsv962522
Chromosome Location	chr2:35421916-35453857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
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	CEBPB	chr2:35445413-35446047	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:35443522-35443545	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:35445796-35446016	A549	lung:	n/a	n/a
4	CEBPB	chr2:35445293-35445486	HepG2	liver:	n/a	chr2:35445377-35445388
5	CEBPB	chr2:35423649-35423835	HepG2	liver:	n/a	chr2:35423727-35423738
6	CEBPB	chr2:35451298-35451471	HepG2	liver:	n/a	chr2:35451382-35451393
7	CHD2	chr2:35453824-35453831	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:35424500-35424650	HepG2	liver:	n/a	n/a
9	CTCF	chr2:35424342-35424799	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr2:35424460-35424610	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:35424445-35424676	LNCaP	prostate:	n/a	n/a
12	CTCF	chr2:35424440-35424590	RPTEC	kidney:	n/a	n/a
13	CTCF	chr2:35424480-35424630	HepG2	liver:	n/a	n/a
14	CTCF	chr2:35424449-35424669	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr2:35424450-35424670	Gliobla	brain:	n/a	n/a
16	CTCF	chr2:35424460-35424610	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr2:35424463-35424655	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:35424509-35424620	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:35424500-35424650	BE2_C	brain:	n/a	n/a
20	CTCF	chr2:35424505-35424634	Medullo	brain:	n/a	n/a
21	CTCF	chr2:35440440-35440590	AG09309	skin:	n/a	n/a
22	CTCF	chr2:35424480-35424630	HRE	kidney:	n/a	n/a
23	CTCF	chr2:35424447-35424662	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:35424500-35424650	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:35424495-35424620	HepG2	liver:	n/a	n/a
26	CTCF	chr2:35424480-35424630	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr2:35424460-35424610	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr2:35424500-35424650	HRE	kidney:	n/a	n/a
29	CTCF	chr2:35424480-35424630	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr2:35424440-35424590	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:35424420-35424570	NHEK	skin:	n/a	n/a
32	CTCF	chr2:35424450-35424676	LNCaP	prostate:	n/a	n/a
33	CTCF	chr2:35424520-35424670	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:35424445-35424633	HepG2	liver:	n/a	n/a
35	CTCF	chr2:35424426-35424689	MCF-7	breast:	n/a	n/a
36	CTCF	chr2:35424440-35424590	BE2_C	brain:	n/a	n/a
37	CTCF	chr2:35424292-35424829	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:35424295-35424778	MCF-7	breast:	n/a	n/a
39	E2F4	chr2:35421631-35421987	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr2:35448451-35448651	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr2:35430974-35431131	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:35445454-35445825	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:35445533-35445832	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:35445501-35445871	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:35445519-35445838	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr2:35445474-35445791	MCF-7	breast:	n/a	n/a
47	FOXA1	chr2:35436494-35436691	T-47D	breast:	n/a	n/a
48	FOXA1	chr2:35424401-35424704	T-47D	breast:	n/a	n/a
49	FOXA1	chr2:35430048-35430314	T-47D	breast:	n/a	n/a
50	FOXA1	chr2:35424468-35424801	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35438569..35439074-chr2:35522272..35523184,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196085	TF binding region

Extended variants
information (count: 506 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541692234	chr2:35422427-35422428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561501828	chr2:35422466-35422467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530284370	chr2:35422488-35422489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550319967	chr2:35422497-35422498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563727395	chr2:35422516-35422517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192168098	chr2:35422538-35422539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534124484	chr2:35422540-35422541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550457822	chr2:35422572-35422573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549018824	chr2:35422582-35422583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566060385	chr2:35422587-35422588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184428937	chr2:35422628-35422629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548064384	chr2:35422648-35422649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534298217	chr2:35422664-35422665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138707181	chr2:35422693-35422694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571560303	chr2:35422736-35422737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555853004	chr2:35422776-35422777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187764279	chr2:35422843-35422844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570409002	chr2:35422850-35422851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371097990	chr2:35422851-35422852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547377212	chr2:35422885-35422886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539518562	chr2:35422897-35422898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552725062	chr2:35422898-35422899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34535393	chr2:35422956-35422957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142842154	chr2:35422959-35422960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541376884	chr2:35422975-35422976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79005244	chr2:35422986-35422987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376538121	chr2:35423000-35423001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543993696	chr2:35423023-35423024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563861918	chr2:35423057-35423058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72871165	chr2:35423079-35423080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536729311	chr2:35423102-35423103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546256784	chr2:35423105-35423106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559521664	chr2:35423184-35423185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528449162	chr2:35423244-35423245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146106671	chr2:35423249-35423250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567966017	chr2:35423258-35423259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556290190	chr2:35423268-35423269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139668160	chr2:35423271-35423272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550409414	chr2:35423326-35423327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77514023	chr2:35423333-35423334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539195411	chr2:35423337-35423338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553001915	chr2:35423344-35423345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566366432	chr2:35423346-35423347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2888153	chr2:35423374-35423375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372680463	chr2:35423387-35423388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537605621	chr2:35423391-35423392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575248231	chr2:35423430-35423431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544123075	chr2:35423450-35423451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78474195	chr2:35423455-35423456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193229789	chr2:35423486-35423487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35422400-35423200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:35422400-35423200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:35423000-35423200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:35423000-35423400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:35423200-35423400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:35423400-35428600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:35445600-35445800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:35445600-35446000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:35445800-35447800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:35452200-35452400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:35452200-35452600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:35452200-35454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:35452400-35453400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:35452400-35454800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:35452600-35453000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:35452600-35454600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:35453000-35453400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:35453000-35454000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:35453200-35453800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:35453200-35454400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:35453400-35453600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:35453400-35453600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:35453400-35454000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:35453600-35453800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:35453600-35454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:35453800-35454000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:35453800-35454200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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