Variant report

Variant	esv3364286
Chromosome Location	chr1:194410365-194598076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:535)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:194504737-194505069	K562	blood:	n/a	n/a
2	ATF1	chr1:194539567-194539748	K562	blood:	n/a	n/a
3	BATF	chr1:194447109-194447326	GM12878	blood:	n/a	n/a
4	BHLHE40	chr1:194504591-194504863	K562	blood:	n/a	n/a
5	CBX3	chr1:194479720-194479912	K562	blood:	n/a	n/a
6	CBX3	chr1:194479655-194479980	K562	blood:	n/a	n/a
7	CCNT2	chr1:194517300-194517500	K562	blood:	n/a	n/a
8	CEBPB	chr1:194574845-194575007	A549	lung:	n/a	chr1:194574939-194574950
9	CEBPB	chr1:194424402-194424677	A549	lung:	n/a	n/a
10	CEBPB	chr1:194574883-194575091	HepG2	liver:	n/a	chr1:194574939-194574950
11	CEBPB	chr1:194531531-194531792	HepG2	liver:	n/a	chr1:194531632-194531643
12	CEBPB	chr1:194538154-194538433	HepG2	liver:	n/a	chr1:194538275-194538286 chr1:194538274-194538287
13	CEBPB	chr1:194424423-194424710	IMR90	lung:	n/a	n/a
14	CEBPB	chr1:194531495-194531766	A549	lung:	n/a	chr1:194531632-194531643
15	CEBPB	chr1:194424471-194424668	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:194514268-194514460	K562	blood:	n/a	chr1:194514354-194514365
17	CEBPB	chr1:194465951-194466182	IMR90	lung:	n/a	chr1:194466086-194466097
18	CEBPB	chr1:194574841-194575055	H1-hESC	embryonic stem cell:	n/a	chr1:194574939-194574950
19	CEBPB	chr1:194465936-194466208	HepG2	liver:	n/a	chr1:194466086-194466097
20	CEBPB	chr1:194514201-194514523	HepG2	liver:	n/a	chr1:194514354-194514365
21	CEBPD	chr1:194504482-194504872	K562	blood:	n/a	n/a
22	CTCF	chr1:194493954-194494237	K562	blood:	n/a	n/a
23	CTCF	chr1:194435980-194436130	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr1:194435920-194436070	BJ	skin:	n/a	n/a
25	CTCF	chr1:194493960-194494110	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr1:194507740-194507890	RPTEC	kidney:	n/a	n/a
27	CTCF	chr1:194507670-194508021	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:194507570-194507916	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:194507700-194507850	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr1:194436000-194436150	HEK293	kidney:	n/a	n/a
31	CTCF	chr1:194537880-194538030	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr1:194435860-194436010	GM12870	blood:	n/a	n/a
33	CTCF	chr1:194435860-194436010	HAc	cerebellar:	n/a	n/a
34	CTCF	chr1:194507880-194508030	GM12871	blood:	n/a	n/a
35	CTCF	chr1:194507760-194507910	NHEK	skin:	n/a	n/a
36	CTCF	chr1:194435989-194436125	LNCaP	prostate:	n/a	n/a
37	CTCF	chr1:194435940-194436090	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr1:194537820-194537970	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:194507740-194507890	HCT-116	colon:	n/a	n/a
40	CTCF	chr1:194494040-194494190	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:194507720-194507870	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr1:194435940-194436090	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:194537880-194538030	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:194507762-194507788	GM10248	blood:	n/a	n/a
45	CTCF	chr1:194435940-194436090	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr1:194435940-194436090	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr1:194436013-194436054	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr1:194484429-194484500	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:194435944-194436092	A549	lung:	n/a	n/a
50	CTCF	chr1:194435980-194436130	HFF-Myc	foreskin:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
2	chr1:194583474..194584454-chr2:31059867..31060367,2	MCF-7	breast:
3	chr1:194519474..194521221-chr1:194527873..194530649,2	K562	blood:
4	chr1:194470680..194473383-chr1:194480491..194482592,2	K562	blood:
5	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
6	chr1:194583954..194584474-chr11:21332888..21333408,2	MCF-7	breast:
7	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
8	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
9	chr1:194583454..194584474-chr7:89057256..89058256,3	MCF-7	breast:
10	chr1:194583954..194584474-chr4:146024840..146025360,2	MCF-7	breast:
11	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
12	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
13	chr1:194583954..194584474-chr4:116457976..116458496,2	MCF-7	breast:
14	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
15	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
16	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
17	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:
18	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:
19	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
20	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
21	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
22	chr1:194470680..194473383-chr1:194480491..194482592,2	K562	blood:
23	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
24	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
25	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
26	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
27	chr1:194519474..194521221-chr1:194527873..194530649,2	K562	blood:
28	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
29	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-983P	TF binding region

Extended variants
information (count: 1217 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529366817	chr1:194411029-194411030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551199799	chr1:194411059-194411060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543763657	chr1:194411063-194411064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569449511	chr1:194411064-194411065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183931476	chr1:194411073-194411074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532658345	chr1:194411079-194411080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544637200	chr1:194411192-194411193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559697038	chr1:194411212-194411213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527416395	chr1:194411220-194411221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12068087	chr1:194411267-194411268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374539801	chr1:194411379-194411380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531485278	chr1:194411402-194411403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12064416	chr1:194411408-194411409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571607926	chr1:194411410-194411411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12025603	chr1:194411435-194411436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538915314	chr1:194411570-194411571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137891272	chr1:194411596-194411597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533685452	chr1:194411612-194411613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185113990	chr1:194411620-194411621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566033575	chr1:194411674-194411675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190115023	chr1:194411690-194411691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555001202	chr1:194411692-194411693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576457792	chr1:194411710-194411711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544035724	chr1:194411711-194411712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557455538	chr1:194411725-194411726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558711716	chr1:194411841-194411842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577144854	chr1:194411865-194411866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370354912	chr1:194411868-194411869	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541296660	chr1:194411900-194411901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368610928	chr1:194411908-194411909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34185324	chr1:194411916-194411917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559732118	chr1:194411943-194411944	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181811897	chr1:194411984-194411985	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542358132	chr1:194412013-194412014	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144257395	chr1:194412054-194412055	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551773316	chr1:194412057-194412058	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375219316	chr1:194412098-194412099	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531295350	chr1:194412121-194412122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12121722	chr1:194412148-194412149	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565047763	chr1:194412151-194412152	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186319916	chr1:194412152-194412153	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114860962	chr1:194412164-194412165	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191222572	chr1:194412191-194412192	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76063065	chr1:194412201-194412202	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548282850	chr1:194412202-194412203	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12121745	chr1:194412218-194412219	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537124782	chr1:194412226-194412227	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180808659	chr1:194412242-194412243	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139593527	chr1:194412280-194412281	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576988580	chr1:194412301-194412302	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194411000-194413800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194411400-194411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:194411400-194412000	Enhancers	Brain Substantia Nigra	brain
4	chr1:194411400-194412200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:194411400-194413400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:194411600-194412000	Enhancers	Brain Angular Gyrus	brain
7	chr1:194411600-194412000	Enhancers	Brain Anterior Caudate	brain
8	chr1:194411600-194412000	Enhancers	Brain Hippocampus Middle	brain
9	chr1:194411600-194412000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:194411600-194412400	Enhancers	Brain Germinal Matrix	brain
11	chr1:194411600-194412400	Enhancers	Fetal Brain Female	brain
12	chr1:194411800-194412000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:194412000-194412400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:194412000-194412400	Active TSS	Brain Substantia Nigra	brain
15	chr1:194412000-194412600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:194412000-194412600	Active TSS	Brain Angular Gyrus	brain
17	chr1:194412000-194412800	Active TSS	Brain Anterior Caudate	brain
18	chr1:194412000-194412800	Active TSS	Brain Hippocampus Middle	brain
19	chr1:194412200-194412400	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:194412200-194412600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:194412200-194412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:194412200-194412600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:194412200-194412800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:194412400-194412600	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr1:194412400-194412600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr1:194412400-194413200	Weak transcription	Brain Germinal Matrix	brain
27	chr1:194412600-194412800	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:194412600-194413200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:194412600-194413600	Enhancers	Brain Substantia Nigra	brain
30	chr1:194412600-194413800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:194412800-194413400	Enhancers	Brain Anterior Caudate	brain
32	chr1:194413200-194413400	Enhancers	Brain Germinal Matrix	brain
33	chr1:194413200-194413800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:194413600-194413800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:194437200-194437600	Active TSS	Right Atrium	heart
36	chr1:194443200-194444400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:194443200-194444400	Enhancers	Fetal Brain Male	brain
38	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:194443800-194444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:194444000-194444200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:194444400-194445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:194445800-194446600	Enhancers	Fetal Heart	heart
45	chr1:194446200-194446800	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:194446400-194447600	Enhancers	Primary B cells from cord blood	blood
47	chr1:194446600-194446800	Enhancers	Right Ventricle	heart
48	chr1:194470600-194471000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:194479800-194480200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:194480200-194484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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