Variant report

Variant	nsv961925
Chromosome Location	chr2:208892380-208897020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:208896418-208896921	A549	lung:	n/a	n/a
2	CEBPB	chr2:208896407-208896915	MCF-7	breast:	n/a	n/a
3	CEBPB	chr2:208896463-208896849	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:208896343-208896834	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:208896423-208896786	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:208896380-208896873	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:208896544-208896735	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr2:208896408-208896786	MCF-7	breast:	n/a	n/a
9	CEBPB	chr2:208896356-208896887	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:208896463-208896824	A549	lung:	n/a	n/a
11	CEBPB	chr2:208896012-208896072	A549	lung:	n/a	chr2:208896031-208896042
12	CEBPB	chr2:208896502-208896775	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:208896445-208896879	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr2:208896006-208896067	K562	blood:	n/a	chr2:208896031-208896042
15	CEBPD	chr2:208896470-208896771	HepG2	liver:	n/a	n/a
16	CEBPD	chr2:208896391-208896849	HepG2	liver:	n/a	n/a
17	CTCF	chr2:208893265-208893301	Kidney_OC	kidney:	n/a	n/a
18	EP300	chr2:208896404-208896893	HepG2	liver:	n/a	n/a
19	EP300	chr2:208896185-208896883	HepG2	liver:	n/a	n/a
20	EP300	chr2:208896503-208896779	HepG2	liver:	n/a	n/a
21	FOXA1	chr2:208896510-208896730	T-47D	breast:	n/a	n/a
22	FOXA1	chr2:208896235-208896942	HepG2	liver:	n/a	n/a
23	FOXA1	chr2:208896220-208896993	HepG2	liver:	n/a	n/a
24	FOXA1	chr2:208896291-208896892	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:208896244-208896944	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:208896503-208896750	T-47D	breast:	n/a	n/a
27	FOXA2	chr2:208896143-208897183	HepG2	liver:	n/a	n/a
28	FOXA2	chr2:208896269-208896834	HepG2	liver:	n/a	n/a
29	FOXA2	chr2:208896353-208896868	A549	lung:	n/a	n/a
30	HDAC2	chr2:208896314-208896862	HepG2	liver:	n/a	chr2:208896714-208896728 chr2:208896716-208896730
31	HDAC2	chr2:208896333-208896884	HepG2	liver:	n/a	chr2:208896714-208896728 chr2:208896716-208896730
32	HNF4A	chr2:208896470-208896748	HepG2	liver:	n/a	n/a
33	HNF4A	chr2:208896504-208896736	HepG2	liver:	n/a	n/a
34	HNF4G	chr2:208896380-208896814	HepG2	liver:	n/a	n/a
35	JUN	chr2:208895925-208896095	HepG2	liver:	n/a	chr2:208896030-208896043
36	JUN	chr2:208896511-208896759	HepG2	liver:	n/a	n/a
37	JUND	chr2:208895929-208896142	HepG2	liver:	n/a	n/a
38	JUND	chr2:208892263-208892437	K562	blood:	n/a	chr2:208892342-208892351
39	JUND	chr2:208896387-208896710	HepG2	liver:	n/a	n/a
40	MAFF	chr2:208893433-208893614	HepG2	liver:	n/a	chr2:208893545-208893563
41	MAFK	chr2:208893390-208893656	HepG2	liver:	n/a	n/a
42	MAFK	chr2:208893543-208893579	HepG2	liver:	n/a	n/a
43	MBD4	chr2:208896348-208896958	HepG2	liver:	n/a	n/a
44	MYBL2	chr2:208896248-208896902	HepG2	liver:	n/a	n/a
45	MYBL2	chr2:208896175-208896965	HepG2	liver:	n/a	n/a
46	NFIC	chr2:208896255-208896947	HepG2	liver:	n/a	n/a
47	NFIC	chr2:208896227-208896870	HepG2	liver:	n/a	n/a
48	RAD21	chr2:208896484-208896765	HepG2	liver:	n/a	n/a
49	RAD21	chr2:208896384-208896898	HepG2	liver:	n/a	n/a
50	RAD21	chr2:208896442-208896747	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:208892815-208892865	NT2-D1	testis:	n/a
2	chr2:208892815-208892865	PrEC	prostate:	n/a
3	chr2:208892815-208892865	MCF10A-Er-Src	breast:	n/a
4	chr2:208892815-208892865	U87	brain:	n/a
5	chr2:208892815-208892865	BE2_C	brain:	n/a
6	chr2:208892815-208892865	SAEC	small airway:	n/a
7	chr2:208892815-208892865	HCM	heart:	n/a
8	chr2:208892815-208892865	Jurkat	blood:	n/a
9	chr2:208892815-208892865	HCPEpiC	choroid plexus:	n/a
10	chr2:208892815-208892865	MCF-7	breast:	n/a
11	chr2:208892815-208892865	HCF	heart:	n/a
12	chr2:208892815-208892865	RPTEC	kidney:	n/a
13	chr2:208892815-208892865	Hela-S3	cervix:	n/a
14	chr2:208892815-208892865	HUVEC	blood vessel:	n/a
15	chr2:208892815-208892865	T-47D	breast:	n/a
16	chr2:208892815-208892865	LNCaP	prostate:	n/a
17	chr2:208892815-208892865	ovcar-3	ovarian:	n/a
18	chr2:208892815-208892865	NB4	blood:	n/a
19	chr2:208892815-208892865	AoSMC	blood vessel:	n/a
20	chr2:208892815-208892865	K562	blood:	n/a
21	chr2:208892815-208892865	HMEC	breast:	n/a
22	chr2:208892815-208892865	AG04450	lung:	fetal
23	chr2:208892815-208892865	HCT-116	colon:	n/a
24	chr2:208892815-208892865	IMR90	lung:	fetal
25	chr2:208892815-208892865	GM19239	blood:	n/a
26	chr2:208892815-208892865	SKMC	muscle:	n/a
27	chr2:208892815-208892865	SK-N-SH_RA	brain:	n/a
28	chr2:208892815-208892865	NHBE	bronchial:	n/a
29	chr2:208892815-208892865	AG04449	skin:	fetal
30	chr2:208892815-208892865	HAEpiC	amniotic membrane:	n/a
31	chr2:208892815-208892865	PANC-1	pancreas:	n/a
32	chr2:208892815-208892865	BJ	skin:	n/a
33	chr2:208892815-208892865	GM12878	blood:	n/a
34	chr2:208892815-208892865	AG09319	gingival:	n/a
35	chr2:208892815-208892865	PFSK-1	brain:	n/a
36	chr2:208892815-208892865	A549	lung:	n/a
37	chr2:208892815-208892865	H1-hESC	embryonic stem cell:	embryo
38	chr2:208892815-208892865	SK-N-MC	brain:	n/a
39	chr2:208892815-208892865	GM12892	blood:	n/a
40	chr2:208892815-208892865	HEEpiC	esophagus:	n/a
41	chr2:208892815-208892865	HRPEpiC	eye:	n/a
42	chr2:208892815-208892865	HepG2	liver:	n/a
43	chr2:208892815-208892865	SK-N-SH	brain:	n/a
44	chr2:208892815-208892865	ProgFib	skin:	n/a
45	chr2:208892815-208892865	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:208892815-208892865	HNPCEpiC	eye:	n/a
47	chr2:208892815-208892865	AG09309	skin:	n/a
48	chr2:208892815-208892865	NHDF-neo	bronchial:	n/a
49	chr2:208892815-208892865	Caco-2	colon:	n/a
50	chr2:208892815-208892865	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:208888754..208891719-chr2:208894965..208896572,2	K562	blood:
2	chr2:208888881..208890563-chr2:208892977..208895909,2	K562	blood:
3	chr2:208613239..208615639-chr2:208892236..208894699,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHM3	TF binding region
ENSG00000185078	TF binding region
PLEKHM3	CpG island
ENSG00000185078	CpG island
ENSG00000178385	chromatin interactions
ENSG00000163249	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs560560226	chr2:208892469-208892470	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541769348	chr2:208892520-208892521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374395146	chr2:208892539-208892540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114260838	chr2:208892597-208892598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369638666	chr2:208892599-208892600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547324880	chr2:208892607-208892608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568551185	chr2:208892623-208892624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117241571	chr2:208892642-208892643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561930983	chr2:208892643-208892644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73066744	chr2:208892679-208892680	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370533220	chr2:208892680-208892681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549594121	chr2:208892681-208892682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13018735	chr2:208892742-208892743	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536051806	chr2:208892763-208892764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549737429	chr2:208892778-208892779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550702362	chr2:208892795-208892796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554652478	chr2:208892815-208892816	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116109342	chr2:208892816-208892817	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558098554	chr2:208892818-208892819	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577944017	chr2:208892819-208892820	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1965865	chr2:208892836-208892837	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371957433	chr2:208892898-208892899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374151563	chr2:208892900-208892901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537032131	chr2:208892958-208892959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79092542	chr2:208892959-208892960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529265242	chr2:208892964-208892965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541586470	chr2:208892997-208892998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144932458	chr2:208893064-208893065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs1466185	chr2:208893139-208893140	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184380020	chr2:208893157-208893158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564142213	chr2:208893213-208893214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532767343	chr2:208893279-208893280	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549891816	chr2:208893304-208893305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190488718	chr2:208893326-208893327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549115866	chr2:208893345-208893346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529518626	chr2:208893350-208893351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182196371	chr2:208893396-208893397	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs55883450	chr2:208893424-208893425	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112054671	chr2:208893435-208893436	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs61563158	chr2:208893436-208893437	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs145106477	chr2:208893439-208893440	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs397818862	chr2:208893440-208893441	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566397516	chr2:208893460-208893461	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs535362963	chr2:208893509-208893510	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs56720876	chr2:208893529-208893530	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551765168	chr2:208893537-208893538	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs79133612	chr2:208893542-208893543	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs140880857	chr2:208893589-208893590	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs537042103	chr2:208893593-208893594	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs62190904	chr2:208893649-208893650	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208890800-208895400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:208890800-208896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:208890800-208899400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:208891000-208894800	Weak transcription	Psoas Muscle	Psoas
5	chr2:208891000-208895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:208891000-208895400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:208891000-208895400	Weak transcription	Lung	lung
8	chr2:208891000-208896000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:208891000-208896000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:208891000-208896000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:208891000-208896200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:208891000-208896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:208891000-208896200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:208891000-208896200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:208891000-208896400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:208891000-208896400	Weak transcription	GM12878-XiMat	blood
17	chr2:208891000-208896400	Weak transcription	HMEC	breast
18	chr2:208891000-208904200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:208891000-208905400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:208891200-208895400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:208891200-208895600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:208891800-208894200	Weak transcription	HepG2	liver
23	chr2:208892200-208895200	Weak transcription	Placenta	Placenta
24	chr2:208894200-208896200	Enhancers	HepG2	liver
25	chr2:208894400-208895800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:208895200-208899200	Enhancers	Placenta	Placenta
27	chr2:208895400-208895800	Enhancers	Lung	lung
28	chr2:208895400-208896600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:208895400-208897000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:208895400-208897600	Enhancers	Fetal Intestine Small	intestine
31	chr2:208895400-208897800	Enhancers	Fetal Intestine Large	intestine
32	chr2:208895600-208897400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:208895800-208897400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:208896000-208896600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:208896000-208897400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:208896000-208897400	Enhancers	Adipose Nuclei	Adipose
37	chr2:208896200-208896600	Enhancers	Ovary	ovary
38	chr2:208896200-208896600	Flanking Active TSS	HepG2	liver
39	chr2:208896200-208896800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:208896200-208896800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:208896200-208897000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:208896200-208897000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:208896200-208897000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:208896400-208896800	Enhancers	HMEC	breast
45	chr2:208896400-208897200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:208896400-208897200	Enhancers	GM12878-XiMat	blood
47	chr2:208896400-208897400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:208896600-208898400	Enhancers	HepG2	liver
49	chr2:208896600-208901000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:208896600-208907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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