Variant report

Variant	esv3394120
Chromosome Location	chr22:23431352-23435850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23433414..23435124-chr22:23436092..23438297,2	MCF-7	breast:
2	chr22:23435451..23438238-chr22:23506678..23508386,2	K562	blood:
3	chr22:23145494..23147180-chr22:23431987..23434426,2	K562	blood:

Extended variants
information (count: 184 )
Associated
traits (count: 206 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11704214	chr22:23431376-23431377	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8136097	chr22:23431380-23431381	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184034341	chr22:23431392-23431393	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376739104	chr22:23431406-23431407	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547343627	chr22:23431439-23431440	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567163577	chr22:23431449-23431450	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377491399	chr22:23431451-23431452	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552561098	chr22:23431466-23431467	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113536837	chr22:23431482-23431483	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537918496	chr22:23431521-23431522	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554773083	chr22:23431587-23431588	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13433645	chr22:23431737-23431738	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188430244	chr22:23431757-23431758	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4822354	chr22:23431763-23431764	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576722451	chr22:23431779-23431780	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573735839	chr22:23431808-23431809	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs539050025	chr22:23431853-23431854	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs13433646	chr22:23431856-23431857	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147313988	chr22:23431896-23431897	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs180941821	chr22:23431912-23431913	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs141034541	chr22:23431963-23431964	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs574976222	chr22:23431966-23431967	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs185888783	chr22:23431971-23431972	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs540828585	chr22:23432017-23432018	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543246951	chr22:23432025-23432026	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553575510	chr22:23432052-23432053	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532817021	chr22:23432086-23432087	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375343410	chr22:23432098-23432099	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190796256	chr22:23432143-23432144	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531710935	chr22:23432163-23432164	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548429123	chr22:23432181-23432182	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568531751	chr22:23432204-23432205	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142255300	chr22:23432206-23432207	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182138453	chr22:23432207-23432208	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570423464	chr22:23432229-23432230	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6003502	chr22:23432234-23432235	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs187221043	chr22:23432263-23432264	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577286073	chr22:23432264-23432265	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374855283	chr22:23432268-23432269	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575974693	chr22:23432308-23432309	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545410307	chr22:23432320-23432321	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191651870	chr22:23432364-23432365	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9612229	chr22:23432450-23432451	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555219565	chr22:23432473-23432474	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368376737	chr22:23432480-23432481	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572126645	chr22:23432523-23432524	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373260732	chr22:23432560-23432561	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560637841	chr22:23432598-23432599	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5759584	chr22:23432644-23432645	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs546209737	chr22:23432653-23432654	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:206)

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
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	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
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	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
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Developmental delay	21147756	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23413600-23440600	Strong transcription	Right Atrium	heart
2	chr22:23416000-23452800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:23416800-23435000	Weak transcription	Fetal Brain Male	brain
4	chr22:23420600-23435000	Weak transcription	Brain Germinal Matrix	brain
5	chr22:23420800-23437000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:23425800-23433000	Weak transcription	Fetal Brain Female	brain
7	chr22:23426400-23437800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr22:23427400-23437000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:23427800-23447600	Weak transcription	Fetal Intestine Small	intestine
10	chr22:23428000-23433400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:23428600-23431400	Enhancers	Primary B cells from peripheral blood	blood
12	chr22:23428600-23431600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:23428800-23436600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:23429600-23431600	Bivalent Enhancer	K562	blood
15	chr22:23429600-23432200	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:23430200-23431600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr22:23430200-23431600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr22:23430200-23438000	Enhancers	Brain Substantia Nigra	brain
19	chr22:23430400-23431400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:23430400-23431400	Enhancers	Brain Anterior Caudate	brain
21	chr22:23430400-23431600	Enhancers	Esophagus	oesophagus
22	chr22:23430400-23431600	Enhancers	Pancreas	Pancrea
23	chr22:23430400-23431600	Enhancers	Spleen	Spleen
24	chr22:23430400-23432000	Enhancers	Right Ventricle	heart
25	chr22:23430400-23432000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr22:23430400-23432200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:23430400-23433000	Enhancers	Gastric	stomach
28	chr22:23430600-23432000	Weak transcription	Brain Angular Gyrus	brain
29	chr22:23430600-23432000	Enhancers	Ovary	ovary
30	chr22:23430600-23432800	Enhancers	Adipose Nuclei	Adipose
31	chr22:23430600-23437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:23430600-23448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:23430800-23432400	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:23430800-23433000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr22:23431000-23431400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr22:23431000-23431600	Enhancers	Hela-S3	cervix
37	chr22:23431000-23432000	Weak transcription	Stomach Mucosa	stomach
38	chr22:23431000-23433400	Weak transcription	HepG2	liver
39	chr22:23431000-23444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:23431200-23431600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr22:23431200-23431800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr22:23431200-23433000	Weak transcription	Primary B cells from cord blood	blood
43	chr22:23431200-23434200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr22:23431200-23436200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr22:23431200-23437800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:23431400-23432200	Weak transcription	Brain Anterior Caudate	brain
47	chr22:23431400-23433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:23431400-23444400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:23431600-23432600	Weak transcription	Spleen	Spleen
50	chr22:23431600-23439800	Weak transcription	Pancreas	Pancrea

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