Variant report

Variant	nsv1065607
Chromosome Location	chr18:45374658-45404751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:45397603-45397941	HepG2	liver:	n/a	chr18:45397770-45397786
2	BACH1	chr18:45391890-45391917	K562	blood:	n/a	n/a
3	BATF	chr18:45379443-45379821	GM12878	blood:	n/a	n/a
4	BATF	chr18:45379570-45379813	GM12878	blood:	n/a	n/a
5	BCL11A	chr18:45379557-45379920	GM12878	blood:	n/a	n/a
6	BCL11A	chr18:45379518-45379810	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:45379541-45379905	HepG2	liver:	n/a	n/a
8	CEBPB	chr18:45379586-45379786	K562	blood:	n/a	n/a
9	CEBPB	chr18:45390790-45391041	A549	lung:	n/a	n/a
10	CEBPB	chr18:45390754-45391063	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:45390727-45391043	IMR90	lung:	n/a	n/a
12	CEBPB	chr18:45389601-45389752	A549	lung:	n/a	n/a
13	CEBPB	chr18:45397656-45397855	HepG2	liver:	n/a	chr18:45397738-45397749
14	CEBPD	chr18:45379393-45379959	K562	blood:	n/a	n/a
15	CHD1	chr18:45380009-45380040	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr18:45403334-45403434	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr18:45403300-45403450	GM06990	blood:	n/a	n/a
18	CTCF	chr18:45397120-45397270	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr18:45391443-45391540	LNCaP	prostate:	n/a	n/a
20	CTCF	chr18:45403260-45403410	HPF	lung:	n/a	n/a
21	CTCF	chr18:45391466-45391531	Medullo	brain:	n/a	n/a
22	CTCF	chr18:45403240-45403390	GM12867	blood:	n/a	n/a
23	CTCF	chr18:45403300-45403423	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr18:45391380-45391530	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr18:45403320-45403470	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr18:45391400-45391550	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr18:45403240-45403390	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr18:45403320-45403470	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr18:45391452-45391621	GM12878	blood:	n/a	n/a
30	CTCF	chr18:45391444-45391551	MCF-7	breast:	n/a	n/a
31	CTCF	chr18:45397000-45397150	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr18:45397074-45397282	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr18:45403260-45403410	GM12878	blood:	n/a	n/a
34	CTCF	chr18:45379588-45379789	K562	blood:	n/a	n/a
35	CTCF	chr18:45403300-45403450	HCFaa	heart:	n/a	n/a
36	CTCF	chr18:45403260-45403410	AG04449	skin:	n/a	n/a
37	CTCF	chr18:45397147-45397225	GM12878	blood:	n/a	n/a
38	CTCF	chr18:45403240-45403390	HCM	heart:	n/a	n/a
39	CTCF	chr18:45403240-45403390	GM12864	blood:	n/a	n/a
40	CTCF	chr18:45391418-45391544	HepG2	liver:	n/a	n/a
41	CTCF	chr18:45403352-45403411	Medullo	brain:	n/a	n/a
42	CTCF	chr18:45391482-45391517	LNCaP	prostate:	n/a	n/a
43	CTCF	chr18:45397866-45397900	Fibrobl	skin:	n/a	n/a
44	CTCF	chr18:45391492-45391566	Lung_OC	lung:	n/a	n/a
45	CTCF	chr18:45399007-45399037	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr18:45397120-45397270	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr18:45397100-45397250	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr18:45403320-45403470	GM12874	blood:	n/a	n/a
49	CTCF	chr18:45391431-45391563	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr18:45403280-45403430	HPAF	blood vessel:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
2	chr18:45379137..45382377-chr18:45391896..45394821,3	K562	blood:
3	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
4	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
5	chr18:45372242..45375198-chr18:45455382..45457471,2	K562	blood:
6	chr18:45390223..45391741-chr18:45457289..45459666,2	MCF-7	breast:
7	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
8	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
9	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
10	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:
11	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
12	chr18:45367507..45370509-chr18:45371769..45374946,4	K562	blood:
13	chr17:57916192..57918375-chr18:45387752..45390655,2	MCF-7	breast:
14	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
15	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
16	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
17	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
18	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
19	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
20	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
21	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
22	chr18:45368468..45370509-chr18:45372236..45375671,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-5	chr18:45396844-45396935	NONHSAT059175
2	lnc-ZBTB7C-4	chr18:45404666-45404867	ENSG00000269365.1

No data

Variant related genes	Relation type
ENSG00000267541	TF binding region
ENSG00000267541	chromatin interactions
ENSG00000167977	chromatin interactions
ENSG00000175387	chromatin interactions

Extended variants
information (count: 1239 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1239 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566263464	chr18:45374723-45374724	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191981331	chr18:45374738-45374739	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142494432	chr18:45374745-45374746	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77958995	chr18:45374758-45374759	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535943136	chr18:45374760-45374761	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555697224	chr18:45374791-45374792	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575670469	chr18:45374792-45374793	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150503321	chr18:45374824-45374825	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139429167	chr18:45374828-45374829	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184243744	chr18:45374835-45374836	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367537999	chr18:45374845-45374846	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372655472	chr18:45374871-45374872	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561086683	chr18:45374872-45374873	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377292093	chr18:45374913-45374914	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112162788	chr18:45374915-45374916	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574940841	chr18:45374933-45374934	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374287363	chr18:45374994-45374995	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1051066	chr18:45375015-45375016	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367537998	chr18:45375021-45375022	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2282656	chr18:45375054-45375055	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377290715	chr18:45375067-45375068	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372218727	chr18:45375075-45375076	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374864221	chr18:45375086-45375087	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532597059	chr18:45375101-45375102	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552816637	chr18:45375118-45375119	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147732220	chr18:45375123-45375124	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528799583	chr18:45375132-45375133	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368276908	chr18:45375138-45375139	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115230711	chr18:45375145-45375146	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112826329	chr18:45375152-45375153	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535930677	chr18:45375194-45375195	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528894839	chr18:45375199-45375200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142492956	chr18:45375200-45375201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565378139	chr18:45375211-45375212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9945835	chr18:45375217-45375218	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558538651	chr18:45375250-45375251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376291814	chr18:45375266-45375267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572217741	chr18:45375279-45375280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531143647	chr18:45375287-45375288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544433046	chr18:45375309-45375310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78937680	chr18:45375335-45375336	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574727662	chr18:45375339-45375340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543932140	chr18:45375358-45375359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563803655	chr18:45375365-45375366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577156507	chr18:45375369-45375370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527436203	chr18:45375390-45375391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559720815	chr18:45375395-45375396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528737306	chr18:45375448-45375449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548509923	chr18:45375534-45375535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561940108	chr18:45375592-45375593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:45355600-45375600	Strong transcription	Hela-S3	cervix
7	chr18:45355600-45375800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:45355600-45376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:45356000-45378000	Weak transcription	Small Intestine	intestine
10	chr18:45356200-45377800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
12	chr18:45356600-45376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:45358600-45376400	Strong transcription	Dnd41	blood
14	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:45359800-45375600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:45359800-45375600	Strong transcription	Fetal Thymus	thymus
17	chr18:45360000-45375400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr18:45360000-45375600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:45361400-45375600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:45361400-45375600	Strong transcription	A549	lung
21	chr18:45361400-45376000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:45362400-45375200	Strong transcription	Primary B cells from cord blood	blood
23	chr18:45362400-45375600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr18:45362600-45375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:45363000-45375800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr18:45363800-45375600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr18:45363800-45375600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:45363800-45376400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:45364000-45375400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr18:45364400-45375600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:45364600-45375600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:45364600-45376200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr18:45365200-45375800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr18:45365400-45375000	Strong transcription	GM12878-XiMat	blood
35	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
36	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
37	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
38	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
40	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
41	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:45367800-45375000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr18:45368000-45375400	Strong transcription	HSMM	muscle
44	chr18:45368200-45375800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
46	chr18:45368400-45377200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr18:45369200-45381200	Weak transcription	Brain Germinal Matrix	brain
49	chr18:45369600-45380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:45369600-45381800	Weak transcription	Rectal Smooth Muscle	rectum

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