Variant report

Variant	esv1815486
Chromosome Location	chr1:196880875-196923025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

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	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
5	BATF	chr1:196920903-196921118	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:196902803-196903015	K562	blood:	n/a	n/a
7	BHLHE40	chr1:196920921-196921226	GM12878	blood:	n/a	n/a
8	CBX3	chr1:196902544-196903655	K562	blood:	n/a	n/a
9	CBX3	chr1:196902699-196903046	K562	blood:	n/a	n/a
10	CCNT2	chr1:196902726-196903313	K562	blood:	n/a	n/a
11	CEBPB	chr1:196910739-196910903	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:196916577-196916873	IMR90	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
13	CEBPB	chr1:196916588-196916860	HepG2	liver:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
14	CEBPB	chr1:196910749-196910930	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr1:196916603-196916881	A549	lung:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
16	CEBPB	chr1:196910745-196910996	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:196910800-196910933	K562	blood:	n/a	n/a
18	CEBPB	chr1:196916608-196916825	K562	blood:	n/a	chr1:196916715-196916728 chr1:196916716-196916727 chr1:196916717-196916726 chr1:196916715-196916726
19	CEBPB	chr1:196916630-196916864	H1-hESC	embryonic stem cell:	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	chr1:196903187-196903189	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:196903236-196903298	A549	lung:	n/a	n/a
23	CTCF	chr1:196903140-196903290	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr1:196903248-196903283	HepG2	liver:	n/a	n/a
25	CTCF	chr1:196903134-196903367	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:196903160-196903310	HepG2	liver:	n/a	n/a
27	CTCF	chr1:196903120-196903270	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr1:196881540-196881690	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:196903216-196903289	GM19240	blood:	n/a	n/a
30	CTCF	chr1:196903044-196903418	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:196903120-196903270	K562	blood:	n/a	n/a
32	CTCF	chr1:196903080-196903230	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:196903144-196903316	HepG2	liver:	n/a	n/a
34	CTCF	chr1:196903160-196903310	GM12871	blood:	n/a	n/a
35	CTCF	chr1:196890711-196890764	GM10248	blood:	n/a	n/a
36	CTCF	chr1:196890609-196890639	A549	lung:	n/a	n/a
37	CTCF	chr1:196903120-196903270	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr1:196903105-196903344	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr1:196895007-196895027	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr1:196903114-196903425	K562	blood:	n/a	n/a
41	CTCF	chr1:196920061-196920152	GM10248	blood:	n/a	n/a
42	CTCF	chr1:196903154-196903352	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr1:196903133-196903359	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:196903190-196903356	LNCaP	prostate:	n/a	n/a
45	CTCF	chr1:196903174-196903336	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:196903211-196903315	GM19239	blood:	n/a	n/a
47	CTCF	chr1:196903221-196903250	Fibrobl	skin:	n/a	n/a
48	CTCF	chr1:196902992-196903460	K562	blood:	n/a	n/a
49	CTCF	chr1:196922571-196922604	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr1:196903190-196903339	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196902941-196902991	Hepatocyte	liver:	n/a
2	chr1:196911888-196911938	IMR90	lung:	fetal
3	chr1:196911888-196911938	ovcar-3	ovarian:	n/a
4	chr1:196902941-196902991	Hela-S3	cervix:	n/a
5	chr1:196911888-196911938	SK-N-MC	brain:	n/a
6	chr1:196902941-196902991	BE2_C	brain:	n/a
7	chr1:196911888-196911938	AG09309	skin:	n/a
8	chr1:196902941-196902991	HIPEpiC	eye:	n/a
9	chr1:196911888-196911938	AG10803	skin:	n/a
10	chr1:196902941-196902991	HUVEC	blood vessel:	n/a
11	chr1:196902941-196902991	ProgFib	skin:	n/a
12	chr1:196902941-196902991	AG10803	skin:	n/a
13	chr1:196911888-196911938	HAEpiC	amniotic membrane:	n/a
14	chr1:196911888-196911938	Hepatocyte	liver:	n/a
15	chr1:196902941-196902991	LNCaP	prostate:	n/a
16	chr1:196911888-196911938	HEK293	kidney:	embryo
17	chr1:196902941-196902991	AG04449	skin:	fetal
18	chr1:196902941-196902991	HRCEpiC	kidney:	n/a
19	chr1:196902941-196902991	GM12892	blood:	n/a
20	chr1:196911888-196911938	AG09319	gingival:	n/a
21	chr1:196911888-196911938	H1-hESC	embryonic stem cell:	embryo
22	chr1:196902941-196902991	NB4	blood:	n/a
23	chr1:196902941-196902991	SK-N-MC	brain:	n/a
24	chr1:196902941-196902991	NH-A	brain:	n/a
25	chr1:196902941-196902991	HL-60	blood:	n/a
26	chr1:196911888-196911938	HCM	heart:	n/a
27	chr1:196911888-196911938	GM12878	blood:	n/a
28	chr1:196902941-196902991	HCM	heart:	n/a
29	chr1:196902941-196902991	HAEpiC	amniotic membrane:	n/a
30	chr1:196911888-196911938	Caco-2	colon:	n/a
31	chr1:196902941-196902991	HMEC	breast:	n/a
32	chr1:196911888-196911938	RPTEC	kidney:	n/a
33	chr1:196902941-196902991	GM06990	blood:	n/a
34	chr1:196911888-196911938	GM12892	blood:	n/a
35	chr1:196911888-196911938	HEEpiC	esophagus:	n/a
36	chr1:196911888-196911938	NH-A	brain:	n/a
37	chr1:196911888-196911938	PFSK-1	brain:	n/a
38	chr1:196911888-196911938	BJ	skin:	n/a
39	chr1:196902941-196902991	SK-N-SH_RA	brain:	n/a
40	chr1:196911888-196911938	SKMC	muscle:	n/a
41	chr1:196902941-196902991	NHDF-neo	bronchial:	n/a
42	chr1:196911888-196911938	T-47D	breast:	n/a
43	chr1:196911888-196911938	CMK	blood:	n/a
44	chr1:196902941-196902991	SAEC	small airway:	n/a
45	chr1:196911888-196911938	K562	blood:	n/a
46	chr1:196902941-196902991	AG04450	lung:	fetal
47	chr1:196902941-196902991	HEEpiC	esophagus:	n/a
48	chr1:196911888-196911938	HRPEpiC	eye:	n/a
49	chr1:196911888-196911938	Hela-S3	cervix:	n/a
50	chr1:196902941-196902991	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:196902868..196904408-chr1:196927162..196928980,2	K562	blood:
2	chr1:196918167..196920410-chr1:196924098..196925907,2	K562	blood:
3	chr1:196919526..196921876-chr1:197123089..197124599,2	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	chr1:196920030-196920158	NONHSAT008605
3	lnc-CFHR5-1	chr1:196918747-196918779	NONHSAT008606
4	lnc-CFHR5-1	chr1:196919982-196920157	NONHSAT008606
5	lnc-CFHR5-1	chr1:196912947-196913068	NONHSAT008607
6	lnc-CFHR5-1	chr1:196919982-196920069	NONHSAT008607
7	lnc-CFHR5-1	chr1:196918566-196918779	NONHSAT008607
8	lnc-CFHR5-1	chr1:196918585-196918779	NONHSAT008605
9	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008606
10	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008605
11	lnc-CFHR5-1	chr1:196912957-196913068	NONHSAT008608
12	lnc-CFHR5-1	chr1:196912988-196913068	NONHSAT008609

No data

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

Extended variants
information (count: 1154 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375778805	chr1:196880883-196880884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560024074	chr1:196880935-196880936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190685949	chr1:196880943-196880944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542650651	chr1:196880953-196880954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530294933	chr1:196880977-196880978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72485119	chr1:196881033-196881034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187714200	chr1:196881073-196881074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190733903	chr1:196881083-196881084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562314030	chr1:196881115-196881116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532879360	chr1:196881186-196881187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551021133	chr1:196881253-196881254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566348003	chr1:196881254-196881255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533831988	chr1:196881310-196881311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548694648	chr1:196881311-196881312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567985146	chr1:196881312-196881313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182893719	chr1:196881342-196881343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188259847	chr1:196881394-196881395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571838851	chr1:196881419-196881420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4044578	chr1:196881420-196881421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192940810	chr1:196881439-196881440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142653102	chr1:196881465-196881466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563255836	chr1:196881498-196881499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572436433	chr1:196881510-196881511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182901576	chr1:196881518-196881519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554643088	chr1:196881571-196881572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1853883	chr1:196881600-196881601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544067548	chr1:196881618-196881619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562351606	chr1:196881630-196881631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145740992	chr1:196881641-196881642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188054458	chr1:196881645-196881646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191392544	chr1:196881677-196881678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527381977	chr1:196881700-196881701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548992029	chr1:196881722-196881723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567125954	chr1:196881742-196881743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532061578	chr1:196881774-196881775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183651401	chr1:196881803-196881804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138667663	chr1:196881810-196881811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539274919	chr1:196881813-196881814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189488790	chr1:196881816-196881817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192437982	chr1:196881825-196881826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185353793	chr1:196881834-196881835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2478009	chr1:196881852-196881853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2478008	chr1:196881853-196881854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536319151	chr1:196881855-196881856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554964182	chr1:196881868-196881869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78464831	chr1:196881911-196881912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79088135	chr1:196881917-196881918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556085186	chr1:196881935-196881936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374646323	chr1:196881943-196881944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570424153	chr1:196881954-196881955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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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