Variant report

Variant	nsv583746
Chromosome Location	chr2:179058818-179059599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:179059192-179059308	K562	blood:	n/a	n/a
2	BACH1	chr2:179058869-179058966	K562	blood:	n/a	n/a
3	BACH1	chr2:179058627-179059213	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr2:179058398-179059517	K562	blood:	n/a	n/a
5	CBX3	chr2:179058754-179059585	K562	blood:	n/a	n/a
6	CCNT2	chr2:179058576-179060455	K562	blood:	n/a	n/a
7	CEBPB	chr2:179058072-179059362	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr2:179058524-179059060	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr2:179059290-179059478	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:179058920-179060350	K562	blood:	n/a	n/a
11	CHD2	chr2:179058389-179060267	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:179059013-179059142	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr2:179059419-179059815	HepG2	liver:	n/a	n/a
14	CREB1	chr2:179058808-179059341	A549	lung:	n/a	n/a
15	CREB1	chr2:179058443-179058928	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr2:179058444-179058852	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr2:179058442-179059535	K562	blood:	n/a	n/a
18	CTBP2	chr2:179058381-179060303	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr2:179059460-179059610	HCM	heart:	n/a	chr2:179059554-179059563 chr2:179059553-179059566
20	CTCF	chr2:179059117-179059399	NHEK	skin:	n/a	n/a
21	CTCF	chr2:179059143-179059350	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr2:179059140-179059290	AG09309	skin:	n/a	n/a
23	CTCF	chr2:179059147-179059367	Gliobla	brain:	n/a	n/a
24	CTCF	chr2:179059109-179059246	GM13976	blood:	n/a	n/a
25	CTCF	chr2:179059180-179059330	HepG2	liver:	n/a	n/a
26	CTCF	chr2:179059140-179059290	AG04450	lung:	n/a	n/a
27	CTCF	chr2:179059140-179059290	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr2:179059160-179059310	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr2:179059080-179059230	GM12867	blood:	n/a	n/a
30	CTCF	chr2:179059100-179059250	GM12866	blood:	n/a	n/a
31	CTCF	chr2:179059113-179059402	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:179059220-179059370	GM12873	blood:	n/a	n/a
33	CTCF	chr2:179059160-179059310	HFF	foreskin:	n/a	n/a
34	CTCF	chr2:179059040-179059190	A549	lung:	n/a	chr2:179059040-179059053
35	CTCF	chr2:179059180-179059330	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr2:179059160-179059310	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:179059002-179059466	IMR90	lung:	n/a	chr2:179059040-179059053
38	CTCF	chr2:179059160-179059310	HCM	heart:	n/a	n/a
39	CTCF	chr2:179059200-179059350	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr2:179059140-179059290	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr2:179059067-179059367	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr2:179059180-179059330	GM12865	blood:	n/a	n/a
43	CTCF	chr2:179059560-179059710	HAc	cerebellar:	n/a	n/a
44	CTCF	chr2:179059160-179059310	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr2:179059143-179059335	GM19240	blood:	n/a	n/a
46	CTCF	chr2:179059157-179059387	GM12892	blood:	n/a	n/a
47	CTCF	chr2:179059174-179059370	GM19239	blood:	n/a	n/a
48	CTCF	chr2:179059110-179059406	K562	blood:	n/a	n/a
49	CTCF	chr2:179059200-179059350	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr2:179059122-179059404	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179059452-179059502	SK-N-SH_RA	brain:	n/a
2	chr2:179059440-179059490	T-47D	breast:	n/a
3	chr2:179059452-179059502	NHDF-neo	bronchial:	n/a
4	chr2:179059452-179059502	HCF	heart:	n/a
5	chr2:179059440-179059490	SK-N-SH_RA	brain:	n/a
6	chr2:179059440-179059490	NT2-D1	testis:	n/a
7	chr2:179059452-179059502	GM12878	blood:	n/a
8	chr2:179059440-179059490	Hepatocyte	liver:	n/a
9	chr2:179059452-179059502	ProgFib	skin:	n/a
10	chr2:179059440-179059490	LNCaP	prostate:	n/a
11	chr2:179059452-179059502	HRE	kidney:	n/a
12	chr2:179059440-179059490	SK-N-MC	brain:	n/a
13	chr2:179059452-179059502	SK-N-SH	brain:	n/a
14	chr2:179059452-179059502	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:179059440-179059490	PFSK-1	brain:	n/a
16	chr2:179059440-179059490	AG09309	skin:	n/a
17	chr2:179059440-179059490	HCM	heart:	n/a
18	chr2:179059452-179059502	AoSMC	blood vessel:	n/a
19	chr2:179059440-179059490	BJ	skin:	n/a
20	chr2:179059440-179059490	AG04449	skin:	fetal
21	chr2:179059452-179059502	PFSK-1	brain:	n/a
22	chr2:179059440-179059490	HEK293	kidney:	embryo
23	chr2:179059440-179059490	H1-hESC	embryonic stem cell:	embryo
24	chr2:179059452-179059502	AG09309	skin:	n/a
25	chr2:179059452-179059502	GM12892	blood:	n/a
26	chr2:179059440-179059490	IMR90	lung:	fetal
27	chr2:179059440-179059490	HCPEpiC	choroid plexus:	n/a
28	chr2:179059452-179059502	HL-60	blood:	n/a
29	chr2:179059440-179059490	HL-60	blood:	n/a
30	chr2:179059440-179059490	SAEC	small airway:	n/a
31	chr2:179059452-179059502	AG04450	lung:	fetal
32	chr2:179059440-179059490	GM06990	blood:	n/a
33	chr2:179059452-179059502	HEK293	kidney:	embryo
34	chr2:179059452-179059502	HNPCEpiC	eye:	n/a
35	chr2:179059452-179059502	NHBE	bronchial:	n/a
36	chr2:179059452-179059502	MCF10A-Er-Src	breast:	n/a
37	chr2:179059452-179059502	BE2_C	brain:	n/a
38	chr2:179059452-179059502	HCT-116	colon:	n/a
39	chr2:179059440-179059490	HEEpiC	esophagus:	n/a
40	chr2:179059452-179059502	HCM	heart:	n/a
41	chr2:179059452-179059502	HCPEpiC	choroid plexus:	n/a
42	chr2:179059452-179059502	HepG2	liver:	n/a
43	chr2:179059452-179059502	U87	brain:	n/a
44	chr2:179059440-179059490	HCF	heart:	n/a
45	chr2:179059440-179059490	GM12878	blood:	n/a
46	chr2:179059452-179059502	HRPEpiC	eye:	n/a
47	chr2:179059452-179059502	IMR90	lung:	fetal
48	chr2:179059440-179059490	SKMC	muscle:	n/a
49	chr2:179059452-179059502	Hepatocyte	liver:	n/a
50	chr2:179059452-179059502	K562	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178976797..178977610-chr2:179058506..179059074,2	MCF-7	breast:
2	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:
3	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
4	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
5	chr2:178979115..178980922-chr2:179059390..179062250,2	K562	blood:
6	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
7	chr2:179059539..179061742-chr2:179114111..179116745,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM45-9	chr2:179059216-179059401	NONHSAT075739

No data

Variant related genes	Relation type
OSBPL6	TF binding region
OSBPL6	CpG island
ENSG00000180228	chromatin interactions
ENSG00000155636	chromatin interactions
ENSG00000204311	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561394726	chr2:179058842-179058843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs187854145	chr2:179058872-179058873	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs375638797	chr2:179058914-179058915	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs548684768	chr2:179058916-179058917	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs334125	chr2:179058924-179058925	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528177151	chr2:179058933-179058934	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs150883299	chr2:179058968-179058969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs138440334	chr2:179058975-179058976	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs536825742	chr2:179059113-179059114	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs550882877	chr2:179059118-179059119	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567435702	chr2:179059188-179059189	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs529728126	chr2:179059225-179059226	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs373036124	chr2:179059226-179059227	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs536693397	chr2:179059242-179059243	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs553087121	chr2:179059274-179059275	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs143920076	chr2:179059301-179059302	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs539141780	chr2:179059400-179059401	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs559060793	chr2:179059447-179059448	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs575930859	chr2:179059472-179059473	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544455819	chr2:179059474-179059475	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561659372	chr2:179059502-179059503	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575030691	chr2:179059530-179059531	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540875947	chr2:179059533-179059534	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376739168	chr2:179059581-179059582	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs528043748	chr2:179059583-179059584	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179059000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:179058000-179060800	Active TSS	NHLF	lung
3	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
4	chr2:179058200-179059000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:179058200-179059000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:179058200-179059200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr2:179058200-179059400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:179058200-179059800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:179058200-179060400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:179058200-179060400	Active TSS	Colon Smooth Muscle	Colon
11	chr2:179058200-179060400	Active TSS	Left Ventricle	heart
12	chr2:179058200-179060400	Active TSS	Rectal Smooth Muscle	rectum
13	chr2:179058200-179060600	Active TSS	Right Ventricle	heart
14	chr2:179058200-179060600	Active TSS	NHDF-Ad	bronchial
15	chr2:179058200-179060800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:179058200-179060800	Active TSS	Right Atrium	heart
17	chr2:179058200-179061000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:179058400-179059000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr2:179058400-179059000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr2:179058400-179059000	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr2:179058400-179059000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr2:179058400-179059200	Active TSS	Colonic Mucosa	Colon
23	chr2:179058400-179059400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:179058400-179059400	Bivalent/Poised TSS	Thymus	Thymus
25	chr2:179058400-179059800	Active TSS	Esophagus	oesophagus
26	chr2:179058400-179059800	Active TSS	Lung	lung
27	chr2:179058400-179060000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:179058400-179060000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:179058400-179060400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:179058400-179060400	Active TSS	Aorta	Aorta
31	chr2:179058400-179060400	Active TSS	HSMM	muscle
32	chr2:179058400-179060600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:179058400-179060800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:179058400-179060800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:179058400-179060800	Active TSS	Fetal Kidney	kidney
36	chr2:179058400-179061000	Active TSS	Ovary	ovary
37	chr2:179058400-179061400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:179058400-179061400	Active TSS	Psoas Muscle	Psoas
39	chr2:179058600-179059000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:179058600-179059000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr2:179058600-179059000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:179058600-179059000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:179058600-179059000	Active TSS	Fetal Heart	heart
44	chr2:179058600-179059200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:179058600-179059200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:179058600-179059600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr2:179058600-179059600	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr2:179058600-179059800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr2:179058600-179059800	Active TSS	Duodenum Mucosa	Duodenum
50	chr2:179058600-179059800	Weak transcription	Fetal Brain Male	brain

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