Variant report

Variant	esv2756735
Chromosome Location	chr20:23146607-23179604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:309)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:23174714-23174842	K562	blood:	n/a	n/a
2	ATF1	chr20:23174598-23174987	K562	blood:	n/a	n/a
3	BACH1	chr20:23174740-23174743	K562	blood:	n/a	n/a
4	BHLHE40	chr20:23161081-23161489	K562	blood:	n/a	n/a
5	BHLHE40	chr20:23159551-23159871	K562	blood:	n/a	n/a
6	BRCA1	chr20:23168432-23168802	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr20:23174571-23175027	K562	blood:	n/a	n/a
8	CEBPB	chr20:23174679-23174962	K562	blood:	n/a	n/a
9	CEBPB	chr20:23178667-23178730	Hela-S3	cervix:	n/a	chr20:23178684-23178695
10	CEBPB	chr20:23174577-23174972	K562	blood:	n/a	n/a
11	CEBPB	chr20:23174611-23174939	K562	blood:	n/a	n/a
12	CEBPB	chr20:23178686-23178697	A549	lung:	n/a	n/a
13	CEBPB	chr20:23174839-23174892	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:23178508-23178853	K562	blood:	n/a	chr20:23178684-23178695
15	CEBPB	chr20:23178512-23178800	HepG2	liver:	n/a	chr20:23178684-23178695
16	CEBPB	chr20:23155483-23155835	K562	blood:	n/a	n/a
17	CEBPB	chr20:23155468-23155819	K562	blood:	n/a	n/a
18	CEBPD	chr20:23174523-23175020	K562	blood:	n/a	n/a
19	CHD2	chr20:23174652-23174670	K562	blood:	n/a	n/a
20	CHD2	chr20:23168418-23168683	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr20:23159574-23159581	K562	blood:	n/a	n/a
22	CREB1	chr20:23174536-23175003	K562	blood:	n/a	chr20:23174773-23174786
23	CREB1	chr20:23174531-23175047	K562	blood:	n/a	chr20:23174773-23174786
24	CTCF	chr20:23168660-23168810	HEEpiC	esophagus:	n/a	chr20:23168746-23168759
25	CTCF	chr20:23159600-23159750	AG04450	lung:	n/a	n/a
26	CTCF	chr20:23159600-23159750	GM12871	blood:	n/a	n/a
27	CTCF	chr20:23159700-23159850	HMF	breast:	n/a	n/a
28	CTCF	chr20:23159640-23159790	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr20:23168520-23168670	HRE	kidney:	n/a	n/a
30	CTCF	chr20:23168633-23168638	MCF-7	breast:	n/a	n/a
31	CTCF	chr20:23159669-23159773	GM12891	blood:	n/a	n/a
32	CTCF	chr20:23159680-23159830	HCM	heart:	n/a	n/a
33	CTCF	chr20:23159682-23159781	GM12878	blood:	n/a	n/a
34	CTCF	chr20:23159966-23160027	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr20:23159529-23159801	K562	blood:	n/a	n/a
36	CTCF	chr20:23159640-23159802	Gliobla	brain:	n/a	n/a
37	CTCF	chr20:23159592-23159875	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr20:23159631-23159855	IMR90	lung:	n/a	n/a
39	CTCF	chr20:23159607-23159840	NHEK	skin:	n/a	n/a
40	CTCF	chr20:23159457-23159994	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:23152140-23152179	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr20:23167981-23168025	LNCaP	prostate:	n/a	n/a
43	CTCF	chr20:23159700-23159850	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr20:23159562-23159977	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:23168500-23168650	RPTEC	kidney:	n/a	n/a
46	CTCF	chr20:23159620-23159770	NB4	blood:	n/a	n/a
47	CTCF	chr20:23159676-23159774	ProgFib	skin:	n/a	n/a
48	CTCF	chr20:23159660-23159810	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:23159640-23159790	GM12865	blood:	n/a	n/a
50	CTCF	chr20:23159620-23159770	GM12874	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23145826..23148563-chr20:23157728..23159717,2	MCF-7	breast:
2	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
3	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
4	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
5	chr20:23168385..23170767-chr20:23176309..23178503,2	MCF-7	breast:
6	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
7	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
8	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
9	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
10	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
11	chr20:23159717..23162468-chr20:23166819..23168990,2	MCF-7	breast:
12	chr20:23145677..23147489-chr20:23148679..23151441,2	MCF-7	breast:
13	chr20:23139207..23141620-chr20:23172771..23174787,2	K562	blood:
14	chr20:23028945..23029562-chr20:23159594..23160287,2	MCF-7	breast:
15	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
16	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
17	chr20:23127608..23130209-chr20:23149080..23150975,2	K562	blood:
18	chr20:23167380..23172469-chr20:23172590..23175556,6	K562	blood:
19	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
20	chr20:23009895..23012864-chr20:23158495..23160827,2	K562	blood:
21	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
22	chr20:23145826..23148563-chr20:23157728..23159717,2	MCF-7	breast:
23	chr20:23133916..23136553-chr20:23158776..23161352,2	K562	blood:
24	chr20:23178876..23181209-chr20:23183336..23185495,2	K562	blood:
25	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:
26	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
27	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:
28	chr20:23145677..23147489-chr20:23148679..23151441,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-2	chr20:23160769-23160845	XLOC_013489
2	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
3	lnc-CD93-3	chr20:23169415-23169661	XLOC_013690
4	lnc-SSTR4-2	chr20:23170420-23170907	XLOC_013489
5	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
6	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
7	lnc-SSTR4-2	chr20:23161048-23161165	XLOC_013489
8	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
9	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
10	lnc-SSTR4-2	chr20:23161048-23161165	XLOC_013489
11	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
12	lnc-SSTR4-2	chr20:23161048-23161430	XLOC_013489
13	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
14	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
15	lnc-SSTR4-2	chr20:23160814-23160845	XLOC_013489
16	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
17	lnc-SSTR4-2	chr20:23160769-23160884	XLOC_013489
18	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045
19	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
20	lnc-SSTR4-2	chr20:23168699-23168795	NONHSAT079045
21	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
22	lnc-SSTR4-2	chr20:23161692-23161853	XLOC_013489
23	lnc-SSTR4-2	chr20:23168765-23168795	XLOC_013489
24	lnc-SSTR4-2	chr20:23167037-23167077	XLOC_013489

No data

Variant related genes	Relation type
RNA5SP478	TF binding region
ENSG00000230387	TF binding region
ENSG00000230387	chromatin interactions
ENSG00000234646	chromatin interactions
ENSG00000178726	chromatin interactions
ENSG00000230492	chromatin interactions
ENSG00000201527	chromatin interactions
FOXC1	miRNA target sites
MLLT4	miRNA target sites
FILIP1L	miRNA target sites
VDAC1	miRNA target sites
RASA4	miRNA target sites
FOXF2	miRNA target sites
FOSL2	miRNA target sites
FOXJ3	miRNA target sites
FOXD1	miRNA target sites
LPIN3	miRNA target sites
ZNF609	miRNA target sites

Extended variants
information (count: 1164 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16985047	chr20:23146607-23146608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528156178	chr20:23146610-23146611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374954864	chr20:23146615-23146616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562656138	chr20:23146628-23146629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370112390	chr20:23146645-23146646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146534644	chr20:23146671-23146672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373826792	chr20:23146690-23146691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188807936	chr20:23146751-23146752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532298848	chr20:23146777-23146778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6113969	chr20:23146784-23146785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35397096	chr20:23146793-23146794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560917558	chr20:23146802-23146803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530051027	chr20:23146808-23146809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149419661	chr20:23146846-23146847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75501808	chr20:23146861-23146862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566510478	chr20:23146869-23146870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6113970	chr20:23146878-23146879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368926251	chr20:23146891-23146892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180782042	chr20:23146907-23146908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552176730	chr20:23146937-23146938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6113971	chr20:23146941-23146942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374087512	chr20:23146975-23146976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185496316	chr20:23147015-23147016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537501766	chr20:23147101-23147102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547807641	chr20:23147109-23147110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548803549	chr20:23147129-23147130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568554913	chr20:23147135-23147136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534533179	chr20:23147137-23147138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550878636	chr20:23147166-23147167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566058856	chr20:23147169-23147170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6076034	chr20:23147178-23147179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114601612	chr20:23147228-23147229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539468993	chr20:23147246-23147247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548716837	chr20:23147274-23147275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190347523	chr20:23147275-23147276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576170365	chr20:23147276-23147277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78359855	chr20:23147277-23147278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537415177	chr20:23147326-23147327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114095188	chr20:23147333-23147334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561166354	chr20:23147334-23147335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6106609	chr20:23147338-23147339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6113972	chr20:23147372-23147373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6106610	chr20:23147388-23147389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532645440	chr20:23147423-23147424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552231362	chr20:23147428-23147429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540389865	chr20:23147461-23147462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560471456	chr20:23147485-23147486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114339412	chr20:23147497-23147498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182210909	chr20:23147498-23147499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562455744	chr20:23147504-23147505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23142800-23146800	Enhancers	Fetal Intestine Large	intestine
2	chr20:23142800-23148000	Weak transcription	NH-A	brain
3	chr20:23143000-23148000	Weak transcription	NHDF-Ad	bronchial
4	chr20:23143200-23147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:23143400-23148000	Weak transcription	NHEK	skin
6	chr20:23143800-23147400	Weak transcription	Esophagus	oesophagus
7	chr20:23144000-23148400	Weak transcription	Right Atrium	heart
8	chr20:23144000-23150800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr20:23144000-23151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23144400-23147000	Enhancers	Fetal Intestine Small	intestine
11	chr20:23145200-23150800	Weak transcription	Lung	lung
12	chr20:23145400-23146800	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:23145400-23147800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:23146000-23147600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:23146200-23150800	Weak transcription	Spleen	Spleen
16	chr20:23146400-23149400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr20:23146400-23149400	Weak transcription	Gastric	stomach
18	chr20:23146600-23146800	Enhancers	Small Intestine	intestine
19	chr20:23146600-23146800	Enhancers	Stomach Smooth Muscle	stomach
20	chr20:23147200-23148200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:23147400-23147600	Enhancers	Esophagus	oesophagus
22	chr20:23147400-23148200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:23147800-23148200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:23148000-23148200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr20:23148000-23148200	Enhancers	Osteobl	bone
26	chr20:23148000-23148400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:23148000-23148400	Enhancers	NHDF-Ad	bronchial
28	chr20:23148000-23148600	Enhancers	NH-A	brain
29	chr20:23148000-23148600	Enhancers	NHEK	skin
30	chr20:23149400-23149800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr20:23149400-23150000	Active TSS	Gastric	stomach
32	chr20:23150800-23151000	Enhancers	Lung	lung
33	chr20:23150800-23151000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr20:23150800-23151200	Enhancers	Spleen	Spleen
35	chr20:23151000-23152200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr20:23152200-23152800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr20:23157400-23157800	Enhancers	HUVEC	blood vessel
38	chr20:23157600-23157800	Enhancers	Adipose Nuclei	Adipose
39	chr20:23157800-23158800	Weak transcription	HUVEC	blood vessel
40	chr20:23158200-23158600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:23158400-23159600	Enhancers	Adipose Nuclei	Adipose
42	chr20:23158600-23159200	Enhancers	Left Ventricle	heart
43	chr20:23158600-23159200	Enhancers	Pancreas	Pancrea
44	chr20:23158600-23159400	Enhancers	Lung	lung
45	chr20:23158600-23159600	Enhancers	Right Atrium	heart
46	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:23158600-23160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:23158600-23161400	Enhancers	Spleen	Spleen
50	chr20:23158600-23161800	Enhancers	Skeletal Muscle Male	skeletal muscle

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