Variant report

Variant	nsv972651
Chromosome Location	chr9:14203791-14205781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:14205523-14205859	A549	lung:	n/a	chr9:14205641-14205653
2	CEBPB	chr9:14205502-14205868	IMR90	lung:	n/a	chr9:14205641-14205653
3	CEBPB	chr9:14205459-14205853	Hela-S3	cervix:	n/a	chr9:14205641-14205653
4	CEBPB	chr9:14205407-14205944	A549	lung:	n/a	chr9:14205641-14205653
5	CEBPB	chr9:14205499-14205786	A549	lung:	n/a	chr9:14205641-14205653
6	E2F4	chr9:14205588-14205823	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr9:14205556-14205885	Hela-S3	cervix:	n/a	chr9:14205826-14205836
8	EP300	chr9:14205395-14206048	SK-N-SH	brain:	n/a	chr9:14205826-14205836
9	EP300	chr9:14205440-14205982	A549	lung:	n/a	chr9:14205826-14205836
10	EP300	chr9:14205446-14205811	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr9:14205424-14205871	SK-N-SH_RA	brain:	n/a	chr9:14205826-14205836
12	FOS	chr9:14205488-14205924	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr9:14205436-14205933	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr9:14205524-14205922	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr9:14205455-14205898	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr9:14205522-14205898	A549	lung:	n/a	n/a
17	FOSL2	chr9:14205402-14206025	SK-N-SH	brain:	n/a	n/a
18	FOSL2	chr9:14205435-14205988	A549	lung:	n/a	n/a
19	GATA3	chr9:14205287-14206094	SK-N-SH	brain:	n/a	chr9:14205318-14205328 chr9:14205614-14205627
20	GATA3	chr9:14205319-14206048	A549	lung:	n/a	chr9:14205614-14205627
21	GATA3	chr9:14205291-14206143	SK-N-SH	brain:	n/a	chr9:14205318-14205328 chr9:14205614-14205627
22	HA-E2F1	chr9:14203340-14203821	MCF-7	breast:	n/a	n/a
23	JUND	chr9:14205384-14206062	SK-N-SH	brain:	n/a	n/a
24	JUND	chr9:14205317-14206062	SK-N-SH	brain:	n/a	n/a
25	JUND	chr9:14205251-14205999	SK-N-SH	brain:	n/a	n/a
26	MAFF	chr9:14203673-14204029	HepG2	liver:	n/a	n/a
27	MAFF	chr9:14203701-14204000	K562	blood:	n/a	n/a
28	MAFK	chr9:14205563-14205899	IMR90	lung:	n/a	chr9:14205720-14205731 chr9:14205720-14205736 chr9:14205721-14205732 chr9:14205720-14205731
29	MAFK	chr9:14203775-14204015	K562	blood:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
30	MAFK	chr9:14203715-14203975	H1-hESC	embryonic stem cell:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
31	MAFK	chr9:14205533-14205906	Hela-S3	cervix:	n/a	chr9:14205720-14205731 chr9:14205720-14205736 chr9:14205721-14205732 chr9:14205720-14205731
32	MAFK	chr9:14203660-14204040	IMR90	lung:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
33	MAFK	chr9:14203679-14204036	HepG2	liver:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
34	MAFK	chr9:14203673-14204040	HepG2	liver:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
35	MAFK	chr9:14203712-14204035	Hela-S3	cervix:	n/a	chr9:14203845-14203859 chr9:14203849-14203866 chr9:14203846-14203857 chr9:14203846-14203861 chr9:14203846-14203862 chr9:14203846-14203857
36	MYC	chr9:14205457-14205917	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr9:14205415-14205907	MCF10A-Er-Src	breast:	n/a	n/a
38	NFIC	chr9:14205397-14205977	SK-N-SH	brain:	n/a	n/a
39	NFIC	chr9:14205298-14206068	SK-N-SH	brain:	n/a	n/a
40	PBX3	chr9:14205294-14206021	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr9:14205357-14206031	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr9:14205416-14205941	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr9:14205535-14205642	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr9:14205485-14205854	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr9:14205470-14205761	SK-N-SH_RA	brain:	n/a	n/a
46	RAD21	chr9:14205471-14205852	SK-N-SH_RA	brain:	n/a	n/a
47	RFX5	chr9:14203716-14203904	HepG2	liver:	n/a	n/a
48	RXRA	chr9:14205330-14205926	SK-N-SH	brain:	n/a	n/a
49	SIN3AK20	chr9:14205402-14205846	SK-N-SH	brain:	n/a	n/a
50	SP1	chr9:14205401-14205979	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14203657..14206657-chr9:14311874..14315004,3	MCF-7	breast:
2	chr9:14200461..14204358-chr9:14312033..14315867,4	MCF-7	breast:
3	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234982	TF binding region
ENSG00000147862	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961420	chr9:14203814-14203815	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190929117	chr9:14203886-14203887	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542259931	chr9:14203889-14203890	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568385360	chr9:14203929-14203930	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563129963	chr9:14203930-14203931	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2382460	chr9:14203942-14203943	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535930044	chr9:14203974-14203975	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1319981	chr9:14203996-14203997	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183980580	chr9:14204006-14204007	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10961421	chr9:14204010-14204011	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374046149	chr9:14204026-14204027	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535814754	chr9:14204052-14204053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62532547	chr9:14204068-14204069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545987983	chr9:14204069-14204070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572510409	chr9:14204081-14204082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541307881	chr9:14204114-14204115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142259752	chr9:14204221-14204222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372031349	chr9:14204230-14204231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188085195	chr9:14204233-14204234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563347343	chr9:14204258-14204259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547315411	chr9:14204273-14204274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192127014	chr9:14204287-14204288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146296327	chr9:14204288-14204289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528122524	chr9:14204308-14204309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547675064	chr9:14204328-14204329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570819841	chr9:14204336-14204337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533523731	chr9:14204345-14204346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184382957	chr9:14204369-14204370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570103521	chr9:14204376-14204377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61754862	chr9:14204396-14204397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549671376	chr9:14204402-14204403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555928551	chr9:14204403-14204404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113731990	chr9:14204426-14204427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570873398	chr9:14204443-14204444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556171178	chr9:14204464-14204465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566073165	chr9:14204480-14204481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187528327	chr9:14204483-14204484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558045697	chr9:14204508-14204509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368530551	chr9:14204543-14204544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543577511	chr9:14204597-14204598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556894290	chr9:14204600-14204601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192858781	chr9:14204615-14204616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540737556	chr9:14204633-14204634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559062144	chr9:14204639-14204640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528036355	chr9:14204643-14204644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569577901	chr9:14204662-14204663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139545842	chr9:14204681-14204682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372909599	chr9:14204713-14204714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550482725	chr9:14204721-14204722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73413860	chr9:14204735-14204736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
2	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
4	chr9:14198200-14204000	Enhancers	Colon Smooth Muscle	Colon
5	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:14199400-14205600	Weak transcription	Small Intestine	intestine
8	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
9	chr9:14199400-14207400	Weak transcription	Gastric	stomach
10	chr9:14199400-14209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:14200200-14205400	Weak transcription	NHDF-Ad	bronchial
13	chr9:14200200-14207200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:14200200-14207400	Weak transcription	Lung	lung
15	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:14201400-14204400	Enhancers	Fetal Brain Male	brain
17	chr9:14201600-14204000	Weak transcription	Left Ventricle	heart
18	chr9:14202200-14203800	Enhancers	Brain Germinal Matrix	brain
19	chr9:14202400-14204400	Enhancers	Fetal Stomach	stomach
20	chr9:14202800-14203800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:14203000-14203800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:14203000-14203800	Flanking Active TSS	NHEK	skin
23	chr9:14203000-14204000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:14203000-14204000	Enhancers	Stomach Mucosa	stomach
25	chr9:14203000-14206600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:14203000-14212000	Weak transcription	Fetal Intestine Small	intestine
27	chr9:14203200-14203800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:14203200-14203800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14203200-14203800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:14203200-14203800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:14203200-14203800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:14203200-14203800	Active TSS	Aorta	Aorta
33	chr9:14203200-14203800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr9:14203200-14203800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr9:14203200-14203800	Active TSS	Brain Substantia Nigra	brain
36	chr9:14203200-14203800	Enhancers	Fetal Muscle Leg	muscle
37	chr9:14203200-14203800	Active TSS	Psoas Muscle	Psoas
38	chr9:14203200-14203800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr9:14203200-14203800	Flanking Active TSS	HUVEC	blood vessel
40	chr9:14203200-14203800	Flanking Active TSS	Osteobl	bone
41	chr9:14203200-14204000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:14203200-14204000	Enhancers	HMEC	breast
43	chr9:14203200-14204000	Enhancers	NHLF	lung
44	chr9:14203400-14203800	Active TSS	Brain Angular Gyrus	brain
45	chr9:14203400-14203800	Active TSS	Brain Anterior Caudate	brain
46	chr9:14203400-14203800	Active TSS	Brain Hippocampus Middle	brain
47	chr9:14203400-14203800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:14203400-14203800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:14203400-14203800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr9:14203400-14203800	Flanking Active TSS	HSMM	muscle

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