Variant report

Variant	esv1819298
Chromosome Location	chr1:196878067-196922825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:196920683-196920808	K562	blood:	n/a	n/a
2	ATF2	chr1:196920857-196921198	GM12878	blood:	n/a	n/a
3	ATF2	chr1:196920798-196921176	GM12878	blood:	n/a	n/a
4	BATF	chr1:196920903-196921118	GM12878	blood:	n/a	n/a
5	BATF	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:196920921-196921226	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:196902803-196903015	K562	blood:	n/a	n/a
8	CBX3	chr1:196902699-196903046	K562	blood:	n/a	n/a
9	CBX3	chr1:196902544-196903655	K562	blood:	n/a	n/a
10	CCNT2	chr1:196902726-196903313	K562	blood:	n/a	n/a
11	CEBPB	chr1:196916603-196916881	A549	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
12	CEBPB	chr1:196916608-196916825	K562	blood:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
13	CEBPB	chr1:196910745-196910996	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:196916588-196916860	HepG2	liver:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
15	CEBPB	chr1:196910739-196910903	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:196910749-196910930	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:196916630-196916864	H1-hESC	embryonic stem cell:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
18	CEBPB	chr1:196910800-196910933	K562	blood:	n/a	n/a
19	CEBPB	chr1:196916577-196916873	IMR90	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
20	CEBPD	chr1:196910706-196910978	HepG2	liver:	n/a	n/a
21	CTCF	chr1:196903207-196903304	K562	blood:	n/a	n/a
22	CTCF	chr1:196879400-196879550	AG10803	skin:	n/a	n/a
23	CTCF	chr1:196903120-196903270	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr1:196879520-196879670	NHEK	skin:	n/a	n/a
25	CTCF	chr1:196879540-196879690	HMF	breast:	n/a	n/a
26	CTCF	chr1:196879480-196879630	HRE	kidney:	n/a	n/a
27	CTCF	chr1:196903144-196903316	HepG2	liver:	n/a	n/a
28	CTCF	chr1:196903044-196903418	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:196903160-196903310	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:196903134-196903367	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:196903133-196903359	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:196902741-196902748	K562	blood:	n/a	n/a
33	CTCF	chr1:196903174-196903336	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:196879420-196879570	AG09319	gingival:	n/a	n/a
35	CTCF	chr1:196903216-196903289	GM19240	blood:	n/a	n/a
36	CTCF	chr1:196879520-196879670	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr1:196879420-196879570	HRE	kidney:	n/a	n/a
38	CTCF	chr1:196879480-196879630	AG04449	skin:	n/a	n/a
39	CTCF	chr1:196879500-196879650	HMEC	breast:	n/a	n/a
40	CTCF	chr1:196879480-196879630	HPF	lung:	n/a	n/a
41	CTCF	chr1:196879560-196879710	HepG2	liver:	n/a	n/a
42	CTCF	chr1:196879320-196879470	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr1:196903236-196903298	A549	lung:	n/a	n/a
44	CTCF	chr1:196920061-196920152	GM10248	blood:	n/a	n/a
45	CTCF	chr1:196879419-196879667	IMR90	lung:	n/a	n/a
46	CTCF	chr1:196903120-196903270	K562	blood:	n/a	n/a
47	CTCF	chr1:196903120-196903270	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:196903200-196903350	GM12869	blood:	n/a	n/a
49	CTCF	chr1:196903259-196903299	Fibrobl	skin:	n/a	n/a
50	CTCF	chr1:196879525-196879586	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196911888-196911938	NH-A	brain:	n/a
2	chr1:196911888-196911938	AG09309	skin:	n/a
3	chr1:196902941-196902991	HIPEpiC	eye:	n/a
4	chr1:196911888-196911938	SAEC	small airway:	n/a
5	chr1:196902941-196902991	T-47D	breast:	n/a
6	chr1:196902941-196902991	ovcar-3	ovarian:	n/a
7	chr1:196911888-196911938	AoSMC	blood vessel:	n/a
8	chr1:196902941-196902991	LNCaP	prostate:	n/a
9	chr1:196902941-196902991	PFSK-1	brain:	n/a
10	chr1:196911888-196911938	HCT-116	colon:	n/a
11	chr1:196902941-196902991	PANC-1	pancreas:	n/a
12	chr1:196902941-196902991	HCT-116	colon:	n/a
13	chr1:196911888-196911938	MCF-7	breast:	n/a
14	chr1:196902941-196902991	HCM	heart:	n/a
15	chr1:196911888-196911938	CMK	blood:	n/a
16	chr1:196911888-196911938	HAEpiC	amniotic membrane:	n/a
17	chr1:196911888-196911938	HUVEC	blood vessel:	n/a
18	chr1:196902941-196902991	K562	blood:	n/a
19	chr1:196911888-196911938	ovcar-3	ovarian:	n/a
20	chr1:196911888-196911938	ProgFib	skin:	n/a
21	chr1:196902941-196902991	A549	lung:	n/a
22	chr1:196911888-196911938	K562	blood:	n/a
23	chr1:196902941-196902991	CMK	blood:	n/a
24	chr1:196911888-196911938	H1-hESC	embryonic stem cell:	embryo
25	chr1:196902941-196902991	Hepatocyte	liver:	n/a
26	chr1:196911888-196911938	LNCaP	prostate:	n/a
27	chr1:196902941-196902991	BJ	skin:	n/a
28	chr1:196911888-196911938	PrEC	prostate:	n/a
29	chr1:196902941-196902991	GM12878	blood:	n/a
30	chr1:196902941-196902991	SK-N-SH	brain:	n/a
31	chr1:196902941-196902991	PrEC	prostate:	n/a
32	chr1:196911888-196911938	HRCEpiC	kidney:	n/a
33	chr1:196911888-196911938	SK-N-MC	brain:	n/a
34	chr1:196911888-196911938	GM06990	blood:	n/a
35	chr1:196911888-196911938	PFSK-1	brain:	n/a
36	chr1:196902941-196902991	Caco-2	colon:	n/a
37	chr1:196902941-196902991	HRCEpiC	kidney:	n/a
38	chr1:196911888-196911938	NHBE	bronchial:	n/a
39	chr1:196911888-196911938	HRPEpiC	eye:	n/a
40	chr1:196902941-196902991	SK-N-SH_RA	brain:	n/a
41	chr1:196902941-196902991	NB4	blood:	n/a
42	chr1:196902941-196902991	HMEC	breast:	n/a
43	chr1:196911888-196911938	ECC-1	luminal epithelium:	n/a
44	chr1:196902941-196902991	HepG2	liver:	n/a
45	chr1:196902941-196902991	AG04450	lung:	fetal
46	chr1:196911888-196911938	PANC-1	pancreas:	n/a
47	chr1:196911888-196911938	T-47D	breast:	n/a
48	chr1:196902941-196902991	SK-N-MC	brain:	n/a
49	chr1:196911888-196911938	GM12878	blood:	n/a
50	chr1:196911888-196911938	MCF10A-Er-Src	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
2	chr1:196874466..196877134-chr1:196878401..196880151,2	MCF-7	breast:
3	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
4	chr1:196919526..196921876-chr1:197123089..197124599,2	K562	blood:
5	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFHR5-1	chr1:196919982-196920158	NONHSAT008608
2	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008605
3	lnc-CFHR5-1	chr1:196912988-196913068	NONHSAT008609
4	lnc-CFHR5-1	chr1:196919982-196920069	NONHSAT008607
5	lnc-CFHR5-1	chr1:196912957-196913068	NONHSAT008608
6	lnc-CFHR5-1	chr1:196920030-196920158	NONHSAT008605
7	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008606
8	lnc-CFHR5-1	chr1:196919982-196920157	NONHSAT008606
9	lnc-CFHR5-1	chr1:196918747-196918779	NONHSAT008606
10	lnc-CFHR5-1	chr1:196918585-196918779	NONHSAT008605
11	lnc-CFHR5-1	chr1:196912947-196913068	NONHSAT008607
12	lnc-CFHR5-1	chr1:196918566-196918779	NONHSAT008607

No data

Variant related genes	Relation type
CFHR2	TF binding region
CFHR2	CpG island

Extended variants
information (count: 1275 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541061525	chr1:196878095-196878096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559064664	chr1:196878101-196878102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530445191	chr1:196878110-196878111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548567259	chr1:196878130-196878131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115621551	chr1:196878132-196878133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184138208	chr1:196878144-196878145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564755197	chr1:196878149-196878150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552351634	chr1:196878176-196878177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190645018	chr1:196878179-196878180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373310236	chr1:196878182-196878183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181981788	chr1:196878188-196878189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138705491	chr1:196878235-196878236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186233367	chr1:196878281-196878282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190554489	chr1:196878284-196878285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554520592	chr1:196878317-196878318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576281780	chr1:196878347-196878348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537282828	chr1:196878356-196878357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558769265	chr1:196878390-196878391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181428582	chr1:196878394-196878395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61818954	chr1:196878475-196878476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529857590	chr1:196878508-196878509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6428376	chr1:196878538-196878539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185678969	chr1:196878554-196878555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376430731	chr1:196878559-196878560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117094455	chr1:196878596-196878597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548291654	chr1:196878625-196878626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542514889	chr1:196878673-196878674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377399459	chr1:196878782-196878783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191027955	chr1:196878787-196878788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182873954	chr1:196878835-196878836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2878725	chr1:196878858-196878859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569697026	chr1:196878867-196878868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564309612	chr1:196878873-196878874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528576358	chr1:196878903-196878904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187515563	chr1:196878976-196878977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148031133	chr1:196879006-196879007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141757921	chr1:196879007-196879008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146023933	chr1:196879008-196879009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545038231	chr1:196879009-196879010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192353133	chr1:196879057-196879058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201330642	chr1:196879099-196879100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536670636	chr1:196879112-196879113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558810069	chr1:196879114-196879115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183176337	chr1:196879143-196879144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552117202	chr1:196879167-196879168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187464658	chr1:196879172-196879173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552747636	chr1:196879175-196879176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574473542	chr1:196879214-196879215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372959206	chr1:196879217-196879218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570663018	chr1:196879236-196879237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196874800-196881400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:196875000-196881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:196877600-196882200	Weak transcription	Liver	Liver
4	chr1:196881200-196883000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:196881400-196881600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:196881400-196881800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:196881400-196882600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:196881400-196882600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:196881400-196882800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:196881600-196882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:196881800-196882600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:196882200-196883800	Strong transcription	Liver	Liver
13	chr1:196882600-196883000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:196882800-196883000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:196883800-196887000	Weak transcription	Liver	Liver
16	chr1:196895800-196896600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:196901400-196903000	Active TSS	K562	blood
18	chr1:196902600-196903200	Weak transcription	Right Atrium	heart
19	chr1:196903000-196903400	Flanking Active TSS	K562	blood
20	chr1:196903200-196903400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:196903200-196903400	ZNF genes & repeats	Right Atrium	heart
22	chr1:196910400-196910800	Enhancers	Liver	Liver
23	chr1:196910600-196911200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:196910600-196911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:196910800-196911000	Flanking Active TSS	Liver	Liver
26	chr1:196910800-196911200	Active TSS	HepG2	liver
27	chr1:196911000-196912000	Enhancers	Liver	Liver
28	chr1:196912000-196913200	Weak transcription	Liver	Liver
29	chr1:196913200-196916600	Active TSS	Liver	Liver
30	chr1:196916600-196917000	Flanking Active TSS	Liver	Liver
31	chr1:196917000-196917200	Active TSS	Liver	Liver
32	chr1:196917200-196917400	Flanking Active TSS	Liver	Liver
33	chr1:196917400-196919400	Genic enhancers	Liver	Liver
34	chr1:196919400-196923400	Strong transcription	Liver	Liver

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