Variant report

Variant	esv8843
Chromosome Location	chr12:123181591-123195219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:123184951-123185203	GM12878	blood:	n/a	n/a
2	BATF	chr12:123184904-123185288	GM12878	blood:	n/a	n/a
3	BCL11A	chr12:123184925-123185178	GM12878	blood:	n/a	chr12:123185140-123185149
4	CBX3	chr12:123192855-123193151	K562	blood:	n/a	n/a
5	CEBPB	chr12:123187869-123188146	A549	lung:	n/a	n/a
6	CEBPB	chr12:123192061-123192396	A549	lung:	n/a	chr12:123192205-123192216
7	CEBPB	chr12:123187794-123188089	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:123187833-123188233	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:123194984-123195338	MCF-7	breast:	n/a	n/a
10	CEBPB	chr12:123192177-123192277	Hela-S3	cervix:	n/a	chr12:123192205-123192216
11	CEBPB	chr12:123192060-123192294	HepG2	liver:	n/a	chr12:123192205-123192216
12	CEBPB	chr12:123192198-123192210	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:123192059-123192377	IMR90	lung:	n/a	chr12:123192205-123192216
14	E2F4	chr12:123187896-123188134	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr12:123187913-123188259	GM12878	blood:	n/a	n/a
16	EBF1	chr12:123187949-123188264	GM12878	blood:	n/a	n/a
17	EP300	chr12:123187789-123188123	HepG2	liver:	n/a	n/a
18	FOS	chr12:123187821-123188180	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr12:123187796-123188158	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:123187570-123188311	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:123187706-123188305	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr12:123184573-123184941	HepG2	liver:	n/a	chr12:123184777-123184784 chr12:123184772-123184783 chr12:123184772-123184784 chr12:123184774-123184782
23	FOSL2	chr12:123193878-123194221	HepG2	liver:	n/a	n/a
24	FOXA1	chr12:123187806-123188302	HepG2	liver:	n/a	n/a
25	FOXA1	chr12:123187829-123188220	HepG2	liver:	n/a	n/a
26	FOXA2	chr12:123187936-123188118	HepG2	liver:	n/a	n/a
27	GATA2	chr12:123192789-123193089	K562	blood:	n/a	n/a
28	GATA2	chr12:123194868-123195095	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr12:123194897-123195387	MCF-7	breast:	n/a	n/a
30	GATA3	chr12:123194991-123195209	MCF-7	breast:	n/a	n/a
31	GATA3	chr12:123194628-123195408	MCF-7	breast:	n/a	n/a
32	GATA3	chr12:123193377-123193611	T-47D	breast:	n/a	n/a
33	HDAC2	chr12:123194915-123195367	MCF-7	breast:	n/a	n/a
34	HEY1	chr12:123187714-123188013	HepG2	liver:	n/a	n/a
35	IRF4	chr12:123184845-123185339	GM12878	blood:	n/a	n/a
36	IRF4	chr12:123184590-123185349	GM12878	blood:	n/a	n/a
37	JUND	chr12:123194874-123195301	MCF-7	breast:	n/a	n/a
38	JUND	chr12:123184699-123184834	HepG2	liver:	n/a	chr12:123184777-123184784 chr12:123184772-123184783 chr12:123184772-123184784 chr12:123184774-123184782
39	JUND	chr12:123184677-123184863	HepG2	liver:	n/a	chr12:123184777-123184784 chr12:123184772-123184783 chr12:123184772-123184784 chr12:123184774-123184782
40	MYC	chr12:123187728-123188305	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr12:123187750-123188250	MCF10A-Er-Src	breast:	n/a	n/a
42	NFIC	chr12:123184737-123185315	GM12878	blood:	n/a	n/a
43	NR2F2	chr12:123194844-123195369	MCF-7	breast:	n/a	n/a
44	NR2F2	chr12:123192809-123193203	K562	blood:	n/a	n/a
45	NR2F2	chr12:123194900-123195374	MCF-7	breast:	n/a	n/a
46	PAX5	chr12:123184834-123185208	GM12878	blood:	n/a	chr12:123185140-123185149
47	POLR2A	chr12:123187704-123188015	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:123187655-123188092	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:123186895-123186998	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr12:123193902-123193996	MCF-7	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123189256-123189306	HCF	heart:	n/a
2	chr12:123187474-123187524	BJ	skin:	n/a
3	chr12:123188078-123188128	CMK	blood:	n/a
4	chr12:123187529-123187579	BJ	skin:	n/a
5	chr12:123188078-123188128	PFSK-1	brain:	n/a
6	chr12:123189256-123189306	SK-N-SH_RA	brain:	n/a
7	chr12:123189236-123189286	NH-A	brain:	n/a
8	chr12:123187474-123187524	Jurkat	blood:	n/a
9	chr12:123187529-123187579	HCT-116	colon:	n/a
10	chr12:123187529-123187579	SAEC	small airway:	n/a
11	chr12:123188078-123188128	HRCEpiC	kidney:	n/a
12	chr12:123187529-123187579	NHBE	bronchial:	n/a
13	chr12:123189256-123189306	HEEpiC	esophagus:	n/a
14	chr12:123189236-123189286	GM19239	blood:	n/a
15	chr12:123189236-123189286	HIPEpiC	eye:	n/a
16	chr12:123187474-123187524	GM19239	blood:	n/a
17	chr12:123187474-123187524	HCT-116	colon:	n/a
18	chr12:123187073-123187123	AG04449	skin:	fetal
19	chr12:123187474-123187524	SAEC	small airway:	n/a
20	chr12:123187073-123187123	U87	brain:	n/a
21	chr12:123189236-123189286	AG09309	skin:	n/a
22	chr12:123187529-123187579	CMK	blood:	n/a
23	chr12:123187073-123187123	Jurkat	blood:	n/a
24	chr12:123187529-123187579	RPTEC	kidney:	n/a
25	chr12:123188078-123188128	Jurkat	blood:	n/a
26	chr12:123188078-123188128	AoSMC	blood vessel:	n/a
27	chr12:123189236-123189286	K562	blood:	n/a
28	chr12:123189236-123189286	A549	lung:	n/a
29	chr12:123187474-123187524	HRPEpiC	eye:	n/a
30	chr12:123189236-123189286	GM12891	blood:	n/a
31	chr12:123187073-123187123	H1-hESC	embryonic stem cell:	embryo
32	chr12:123189256-123189306	NHBE	bronchial:	n/a
33	chr12:123188078-123188128	Hepatocyte	liver:	n/a
34	chr12:123187474-123187524	HEEpiC	esophagus:	n/a
35	chr12:123189236-123189286	AG04449	skin:	fetal
36	chr12:123189236-123189286	PrEC	prostate:	n/a
37	chr12:123188078-123188128	K562	blood:	n/a
38	chr12:123187529-123187579	NB4	blood:	n/a
39	chr12:123187073-123187123	SKMC	muscle:	n/a
40	chr12:123187529-123187579	HRPEpiC	eye:	n/a
41	chr12:123188078-123188128	HCF	heart:	n/a
42	chr12:123189256-123189306	AG04450	lung:	fetal
43	chr12:123187474-123187524	AG04449	skin:	fetal
44	chr12:123187474-123187524	HIPEpiC	eye:	n/a
45	chr12:123187474-123187524	HCPEpiC	choroid plexus:	n/a
46	chr12:123189236-123189286	HMEC	breast:	n/a
47	chr12:123187073-123187123	Caco-2	colon:	n/a
48	chr12:123189236-123189286	AG10803	skin:	n/a
49	chr12:123187073-123187123	HEEpiC	esophagus:	n/a
50	chr12:123187529-123187579	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123186486..123188573-chr12:123199930..123201817,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DENR-2	chr12:123185843-123186416	NONHSAT031529

No data

Variant related genes	Relation type
ENSG00000256249	TF binding region
HCAR2	TF binding region
ENSG00000256249	CpG island
HCAR2	CpG island
ENSG00000255398	chromatin interactions

Extended variants
information (count: 743 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546721789	chr12:123181652-123181653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571325595	chr12:123181658-123181659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs645491	chr12:123181661-123181662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113041737	chr12:123181671-123181672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147311657	chr12:123181685-123181686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57423963	chr12:123181749-123181750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569162584	chr12:123181768-123181769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183751752	chr12:123181840-123181841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs509548	chr12:123181855-123181856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572701313	chr12:123181856-123181857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533696590	chr12:123181866-123181867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558640818	chr12:123181911-123181912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577237059	chr12:123181919-123181920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371559046	chr12:123181984-123181985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544621627	chr12:123181987-123181988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374135521	chr12:123181996-123181997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575117994	chr12:123182002-123182003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112540344	chr12:123182028-123182029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149434927	chr12:123182054-123182055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188471592	chr12:123182096-123182097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143857115	chr12:123182117-123182118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565013913	chr12:123182125-123182126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532089879	chr12:123182148-123182149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528534577	chr12:123182149-123182150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs643285	chr12:123182151-123182152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568753394	chr12:123182164-123182165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536598503	chr12:123182202-123182203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181359053	chr12:123182220-123182221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185839265	chr12:123182225-123182226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566392377	chr12:123182243-123182244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190542120	chr12:123182278-123182279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558306036	chr12:123182308-123182309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535010	chr12:123182310-123182311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs7972971	chr12:123182332-123182333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182212637	chr12:123182335-123182336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372262670	chr12:123182369-123182370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542205452	chr12:123182406-123182407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77606554	chr12:123182412-123182413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187304646	chr12:123182470-123182471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536270525	chr12:123182484-123182485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190900397	chr12:123182493-123182494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182480939	chr12:123182516-123182517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552979017	chr12:123182522-123182523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546449996	chr12:123182547-123182548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186970116	chr12:123182574-123182575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72083262	chr12:123182575-123182576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4038534	chr12:123182598-123182599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377007003	chr12:123182609-123182610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71445280	chr12:123182610-123182611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55943771	chr12:123182611-123182612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123166600-123187800	Weak transcription	A549	lung
2	chr12:123174000-123199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:123176400-123182000	Weak transcription	Adipose Nuclei	Adipose
4	chr12:123176400-123182400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:123180600-123182400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:123181000-123181800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:123181200-123182200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:123181200-123182400	Enhancers	Placenta	Placenta
9	chr12:123181200-123183000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:123181200-123183000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:123181600-123182600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:123181600-123182600	Enhancers	HMEC	breast
13	chr12:123181600-123182600	Enhancers	NHEK	skin
14	chr12:123181800-123185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:123182000-123182600	Enhancers	Adipose Nuclei	Adipose
16	chr12:123182200-123184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:123182400-123182600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:123182400-123182800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:123182400-123182800	Weak transcription	Placenta	Placenta
20	chr12:123182400-123183000	Enhancers	Primary T cells from cord blood	blood
21	chr12:123182600-123183800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:123182600-123185200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:123182600-123185200	Weak transcription	HMEC	breast
24	chr12:123182600-123185400	Weak transcription	NHEK	skin
25	chr12:123182800-123183000	Enhancers	Placenta	Placenta
26	chr12:123182800-123185200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:123183000-123185000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:123183000-123185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:123183000-123185400	Weak transcription	Placenta	Placenta
30	chr12:123183800-123184800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:123184000-123188800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:123184200-123185800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123184800-123185200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:123185000-123185400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:123185200-123185400	Active TSS	Adipose Nuclei	Adipose
36	chr12:123185200-123185800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:123185200-123186000	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr12:123185200-123186000	Enhancers	HMEC	breast
39	chr12:123185200-123186000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:123185200-123187200	Active TSS	Esophagus	oesophagus
41	chr12:123185400-123185600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:123185400-123185600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:123185400-123185600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:123185400-123185600	Enhancers	Placenta	Placenta
45	chr12:123185400-123185600	Flanking Active TSS	NHEK	skin
46	chr12:123185400-123186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:123185400-123186800	Active TSS	Primary hematopoietic stem cells	blood
48	chr12:123185400-123188200	Active TSS	Primary B cells from cord blood	blood
49	chr12:123185600-123185800	Active TSS	Adipose Nuclei	Adipose
50	chr12:123185600-123185800	Enhancers	NHEK	skin

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