Variant report

Variant	esv2763260
Chromosome Location	chr22:31141521-31185000
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	ARID3A	chr22:31178603-31178978	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:31159846-31160054	HepG2	liver:	n/a	n/a
3	ATF2	chr22:31141519-31142307	GM12878	blood:	n/a	n/a
4	ATF2	chr22:31141576-31142087	GM12878	blood:	n/a	n/a
5	BATF	chr22:31141686-31141994	GM12878	blood:	n/a	n/a
6	BATF	chr22:31159807-31160100	GM12878	blood:	n/a	n/a
7	BATF	chr22:31141691-31141942	GM12878	blood:	n/a	n/a
8	BATF	chr22:31142018-31142440	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:31141602-31141986	GM12878	blood:	n/a	n/a
10	BCLAF1	chr22:31141667-31142037	GM12878	blood:	n/a	n/a
11	BHLHE40	chr22:31151459-31151687	K562	blood:	n/a	n/a
12	BHLHE40	chr22:31178613-31178939	HepG2	liver:	n/a	n/a
13	BHLHE40	chr22:31141699-31142171	GM12878	blood:	n/a	n/a
14	BHLHE40	chr22:31164077-31164084	K562	blood:	n/a	n/a
15	CEBPB	chr22:31162269-31162467	HepG2	liver:	n/a	n/a
16	CEBPB	chr22:31178599-31179087	MCF-7	breast:	n/a	chr22:31178840-31178851
17	CEBPB	chr22:31145572-31145707	K562	blood:	n/a	n/a
18	CEBPB	chr22:31178752-31179032	A549	lung:	n/a	chr22:31178840-31178851
19	CEBPB	chr22:31178677-31178961	Hela-S3	cervix:	n/a	chr22:31178840-31178851
20	CEBPB	chr22:31159792-31160244	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr22:31178412-31178968	A549	lung:	n/a	chr22:31178840-31178851
22	CEBPB	chr22:31178522-31179069	A549	lung:	n/a	chr22:31178840-31178851
23	CEBPB	chr22:31182366-31182569	HepG2	liver:	n/a	chr22:31182477-31182488
24	CEBPB	chr22:31159882-31160176	A549	lung:	n/a	n/a
25	CEBPB	chr22:31178640-31178998	IMR90	lung:	n/a	chr22:31178840-31178851
26	CEBPB	chr22:31178491-31179017	HepG2	liver:	n/a	chr22:31178840-31178851
27	CEBPB	chr22:31178756-31178931	K562	blood:	n/a	chr22:31178840-31178851
28	CHD1	chr22:31151217-31152156	IMR90	lung:	n/a	n/a
29	CHD1	chr22:31159727-31160257	IMR90	lung:	n/a	n/a
30	CHD1	chr22:31142026-31142218	GM12878	blood:	n/a	n/a
31	CHD2	chr22:31151407-31151716	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr22:31159949-31160238	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr22:31152120-31152270	HBMEC	blood vessel:	n/a	chr22:31152133-31152151 chr22:31152135-31152156 chr22:31152136-31152149
34	CTCF	chr22:31151100-31151250	HAc	cerebellar:	n/a	n/a
35	CTCF	chr22:31150920-31151070	AG09309	skin:	n/a	n/a
36	CTCF	chr22:31159860-31160010	GM06990	blood:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
37	CTCF	chr22:31151480-31151630	GM12864	blood:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582
38	CTCF	chr22:31151500-31151650	Caco-2	colon:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582
39	CTCF	chr22:31151268-31151852	K562	blood:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582
40	CTCF	chr22:31159781-31160056	K562	blood:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
41	CTCF	chr22:31151540-31151690	GM12869	blood:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582
42	CTCF	chr22:31159880-31160030	HRE	kidney:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
43	CTCF	chr22:31159860-31160010	AG09309	skin:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
44	CTCF	chr22:31159818-31160045	MCF-7	breast:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
45	CTCF	chr22:31151430-31151742	GM19238	blood:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582
46	CTCF	chr22:31159778-31160057	SK-N-SH_RA	brain:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
47	CTCF	chr22:31159840-31159990	HBMEC	blood vessel:	n/a	chr22:31159915-31159931 chr22:31159914-31159932 chr22:31159916-31159937
48	CTCF	chr22:31159860-31160010	AG04450	lung:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
49	CTCF	chr22:31159698-31160214	MCF-7	breast:	n/a	chr22:31159915-31159931 chr22:31159983-31159991 chr22:31159914-31159932 chr22:31159916-31159937
50	CTCF	chr22:31151372-31151724	H1-hESC	embryonic stem cell:	n/a	chr22:31151568-31151581 chr22:31151566-31151584 chr22:31151569-31151579 chr22:31151561-31151582

No.	Distal block	Cell Line	Cell type
1	chr22:31030229..31031056-chr22:31150888..31151995,5	MCF-7	breast:
2	chr22:31159719..31160356-chr22:31478339..31479320,2	K562	blood:
3	chr22:31029021..31032982-chr22:31149993..31154499,6	MCF-7	breast:
4	chr22:31030000..31032034-chr22:31150706..31152049,22	MCF-7	breast:
5	chr22:30951003..30951874-chr22:31151091..31151667,2	MCF-7	breast:
6	chr22:31159533..31160378-chr22:31286324..31287027,3	MCF-7	breast:
7	chr22:31001044..31001817-chr22:31150992..31151551,2	MCF-7	breast:
8	chr22:31158219..31160716-chr22:31317751..31319382,2	K562	blood:
9	chr22:31030010..31031947-chr22:31150155..31152228,24	K562	blood:
10	chr22:31029207..31031940-chr22:31149913..31152746,3	MCF-7	breast:
11	chr22:31138448..31141256-chr22:31142885..31145479,3	MCF-7	breast:
12	chr22:31147020..31149382-chr22:31151081..31153329,2	K562	blood:
13	chr22:31000969..31001915-chr22:31151437..31152043,2	MCF-7	breast:
14	chr22:31090327..31091007-chr22:31151212..31152113,2	MCF-7	breast:
15	chr22:31030523..31032317-chr22:31149700..31152237,3	K562	blood:
16	chr22:31159331..31161030-chr22:31286318..31287902,10	MCF-7	breast:
17	chr22:31147020..31149382-chr22:31151081..31153329,2	K562	blood:
18	chr22:31090243..31091477-chr22:31151138..31152055,3	MCF-7	breast:
19	chr22:31150005..31151673-chr22:31152647..31154968,2	MCF-7	breast:
20	chr22:31158390..31161654-chr22:31315788..31318935,3	MCF-7	breast:
21	chr22:20772349..20772857-chr22:31151086..31151590,2	K562	blood:
22	chr22:31150005..31151673-chr22:31152647..31154968,2	MCF-7	breast:
23	chr22:31031196..31033170-chr22:31143142..31145233,2	K562	blood:
24	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:
25	chr22:30683911..30684563-chr22:31150961..31152038,3	K562	blood:
26	chr22:31166197..31167896-chr22:31176157..31178787,2	MCF-7	breast:
27	chr22:31030531..31032317-chr22:31150732..31152918,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35E4-2	chr22:31166570-31166668	NONHSAT084810
2	lnc-SLC35E4-2	chr22:31160323-31160379	NONHSAT084810

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000239282	chromatin interactions
ENSG00000100036	chromatin interactions
ENSG00000184792	chromatin interactions
ENSG00000183963	chromatin interactions
ENSG00000235989	chromatin interactions

Extended variants
information (count: 1527 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185790779	chr22:31141526-31141527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549575258	chr22:31141532-31141533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9609072	chr22:31141541-31141542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376977327	chr22:31141654-31141655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71328868	chr22:31141677-31141678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35040353	chr22:31141719-31141720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148875413	chr22:31141773-31141774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552528275	chr22:31141843-31141844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143571105	chr22:31141855-31141856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114703072	chr22:31141899-31141900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554716572	chr22:31141929-31141930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574993637	chr22:31142114-31142115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77019079	chr22:31142136-31142137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569269970	chr22:31142175-31142176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371477554	chr22:31142182-31142183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577593483	chr22:31142278-31142279	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189051395	chr22:31142288-31142289	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538150025	chr22:31142342-31142343	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10427627	chr22:31142343-31142344	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140875613	chr22:31142411-31142412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141787267	chr22:31142418-31142419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571920028	chr22:31142420-31142421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541025352	chr22:31142428-31142429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34500140	chr22:31142472-31142473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57566955	chr22:31142493-31142494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374037725	chr22:31142506-31142507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568623651	chr22:31142507-31142508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368310619	chr22:31142510-31142511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372067269	chr22:31142592-31142593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560610037	chr22:31142610-31142611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192307695	chr22:31142619-31142620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549563099	chr22:31142667-31142668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564021816	chr22:31142668-31142669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563176730	chr22:31142721-31142722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532352424	chr22:31142736-31142737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12158477	chr22:31142760-31142761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184559349	chr22:31142843-31142844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534667996	chr22:31142861-31142862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548602867	chr22:31142933-31142934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568562319	chr22:31142954-31142955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188578426	chr22:31142956-31142957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557576920	chr22:31142984-31142985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553870568	chr22:31142993-31142994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538861145	chr22:31143014-31143015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577036315	chr22:31143034-31143035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553344524	chr22:31143058-31143059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533084203	chr22:31143088-31143089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181460059	chr22:31143091-31143092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554192195	chr22:31143109-31143110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs136350	chr22:31143110-31143111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
3	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31134000-31141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
7	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:31137600-31147200	Weak transcription	Aorta	Aorta
10	chr22:31137600-31147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31137600-31153000	Weak transcription	Gastric	stomach
12	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:31139200-31145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
17	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
18	chr22:31139600-31148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
20	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
21	chr22:31140400-31145400	Weak transcription	Lung	lung
22	chr22:31140400-31149000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:31140600-31146000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:31140800-31143000	Weak transcription	K562	blood
25	chr22:31141400-31141600	Flanking Active TSS	GM12878-XiMat	blood
26	chr22:31141400-31142200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr22:31141600-31141800	Enhancers	GM12878-XiMat	blood
28	chr22:31141800-31142000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:31141800-31142000	Flanking Active TSS	GM12878-XiMat	blood
30	chr22:31142000-31142200	Enhancers	GM12878-XiMat	blood
31	chr22:31142200-31142400	Flanking Active TSS	GM12878-XiMat	blood
32	chr22:31142400-31143200	Enhancers	GM12878-XiMat	blood
33	chr22:31143000-31143800	Enhancers	K562	blood
34	chr22:31143400-31143800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:31143800-31145800	Weak transcription	K562	blood
36	chr22:31144800-31145200	Enhancers	Brain Angular Gyrus	brain
37	chr22:31145000-31146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:31145200-31149200	Weak transcription	Brain Angular Gyrus	brain
39	chr22:31145800-31146000	Enhancers	Lung	lung
40	chr22:31145800-31146200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:31145800-31146400	Enhancers	K562	blood
42	chr22:31146000-31146400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr22:31146000-31146400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:31146200-31146400	Enhancers	HSMM	muscle
45	chr22:31146200-31149800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:31146200-31152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:31146400-31148000	Weak transcription	HSMM	muscle
48	chr22:31146400-31149800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr22:31147600-31148200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:31147800-31148200	Enhancers	Spleen	Spleen

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