Variant report

Variant	nsv563857
Chromosome Location	chr14:22392703-22408606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:22398475-22398574	H1-hESC	embryonic stem cell:	n/a	chr14:22398526-22398537
2	CEBPB	chr14:22398390-22398663	HepG2	liver:	n/a	chr14:22398526-22398537
3	CEBPB	chr14:22398448-22398633	A549	lung:	n/a	chr14:22398526-22398537
4	CEBPB	chr14:22397017-22397228	HepG2	liver:	n/a	n/a
5	CTCF	chr14:22401937-22402130	MCF-7	breast:	n/a	chr14:22402052-22402070
6	CTCF	chr14:22401850-22402256	A549	lung:	n/a	chr14:22402052-22402070
7	CTCF	chr14:22392760-22392910	GM12871	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
8	CTCF	chr14:22392720-22392870	GM06990	blood:	n/a	n/a
9	CTCF	chr14:22402020-22402170	HMF	breast:	n/a	chr14:22402052-22402070
10	CTCF	chr14:22401960-22402110	NHEK	skin:	n/a	chr14:22402052-22402070
11	CTCF	chr14:22392780-22392930	Caco-2	colon:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
12	CTCF	chr14:22402041-22402080	MCF-7	breast:	n/a	chr14:22402052-22402070
13	CTCF	chr14:22392800-22392950	GM12868	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
14	CTCF	chr14:22402000-22402150	HCPEpiC	choroid plexus:	n/a	chr14:22402052-22402070
15	CTCF	chr14:22392760-22392910	GM12864	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
16	CTCF	chr14:22392827-22392905	HepG2	liver:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
17	CTCF	chr14:22392840-22392990	GM12867	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
18	CTCF	chr14:22392840-22392987	GM12878	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
19	CTCF	chr14:22392826-22392984	Spleen_OC	spleen:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
20	CTCF	chr14:22402000-22402150	HMEC	breast:	n/a	chr14:22402052-22402070
21	CTCF	chr14:22401974-22402150	Hela-S3	cervix:	n/a	chr14:22402052-22402070
22	CTCF	chr14:22392820-22392970	HEK293	kidney:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
23	CTCF	chr14:22401756-22402277	MCF-7	breast:	n/a	chr14:22402052-22402070
24	CTCF	chr14:22401960-22402110	GM12873	blood:	n/a	chr14:22402052-22402070
25	CTCF	chr14:22401960-22402110	GM12867	blood:	n/a	chr14:22402052-22402070
26	CTCF	chr14:22401940-22402090	GM12868	blood:	n/a	chr14:22402052-22402070
27	CTCF	chr14:22401911-22402210	Spleen_OC	spleen:	n/a	chr14:22402052-22402070
28	CTCF	chr14:22401964-22402119	MCF-7	breast:	n/a	chr14:22402052-22402070
29	CTCF	chr14:22392825-22392971	MCF-7	breast:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
30	CTCF	chr14:22402040-22402190	GM12865	blood:	n/a	chr14:22402052-22402070
31	CTCF	chr14:22401960-22402110	HCT-116	colon:	n/a	chr14:22402052-22402070
32	CTCF	chr14:22402040-22402190	HVMF	connective:	n/a	chr14:22402052-22402070
33	CTCF	chr14:22401940-22402090	HEK293	kidney:	n/a	chr14:22402052-22402070
34	CTCF	chr14:22401960-22402110	GM12878	blood:	n/a	chr14:22402052-22402070
35	CTCF	chr14:22392800-22392950	GM12864	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
36	CTCF	chr14:22401980-22402130	Hela-S3	cervix:	n/a	chr14:22402052-22402070
37	CTCF	chr14:22401940-22402090	HEEpiC	esophagus:	n/a	chr14:22402052-22402070
38	CTCF	chr14:22392820-22392970	GM12869	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
39	CTCF	chr14:22402000-22402150	HepG2	liver:	n/a	chr14:22402052-22402070
40	CTCF	chr14:22392847-22392972	GM19240	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
41	CTCF	chr14:22401983-22402096	Pancreas_OC	pancreas:	n/a	chr14:22402052-22402070
42	CTCF	chr14:22401886-22402174	MCF-7	breast:	n/a	chr14:22402052-22402070
43	CTCF	chr14:22392680-22392830	A549	lung:	n/a	n/a
44	CTCF	chr14:22402020-22402170	GM12866	blood:	n/a	chr14:22402052-22402070
45	CTCF	chr14:22392740-22392890	HepG2	liver:	n/a	n/a
46	CTCF	chr14:22392831-22392955	GM19239	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
47	CTCF	chr14:22401873-22402122	H1-hESC	embryonic stem cell:	n/a	chr14:22402052-22402070
48	CTCF	chr14:22401940-22402090	GM06990	blood:	n/a	chr14:22402052-22402070
49	CTCF	chr14:22401987-22402110	HepG2	liver:	n/a	chr14:22402052-22402070
50	CTCF	chr14:22392840-22392990	Caco-2	colon:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899

No.	Distal block	Cell Line	Cell type
1	chr14:22381710..22382649-chr14:22401797..22402492,3	MCF-7	breast:
2	chr10:88513529..88515426-chr14:22404451..22405951,2	K562	blood:
3	chr14:22384435..22387181-chr14:22391820..22393820,2	MCF-7	breast:
4	chr14:22388102..22388976-chr14:22401807..22402500,2	MCF-7	breast:
5	chr14:22336451..22337308-chr14:22401460..22402246,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AE000662.92.1-10	chr14:22392658-22392811	NONHSAT035717
2	lnc-AE000662.92.1-10	chr14:22392662-22392811	NONHSAT035718
3	lnc-AE000662.92.1-10	chr14:22392607-22392811	NONHSAT035715
4	lnc-AE000662.92.1-10	chr14:22392628-22392831	NONHSAT035716

Variant related genes	Relation type
TRAV9-2	TF binding region
ENSG00000211788	chromatin interactions
ENSG00000211791	chromatin interactions

Extended variants
information (count: 666 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8021861	chr14:22392703-22392704	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73595132	chr14:22392718-22392719	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17197620	chr14:22392760-22392761	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs117541445	chr14:22392774-22392775	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs8008040	chr14:22392807-22392808	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369927923	chr14:22392818-22392819	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs267603932	chr14:22392819-22392820	Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs35379740	chr14:22392838-22392839	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs17112255	chr14:22392845-22392846	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370071188	chr14:22392849-22392850	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372434720	chr14:22392902-22392903	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528062825	chr14:22392909-22392910	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556566797	chr14:22392910-22392911	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554302537	chr14:22392970-22392971	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76791097	chr14:22392979-22392980	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs8007442	chr14:22392983-22392984	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367899535	chr14:22392986-22392987	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12882476	chr14:22393086-22393087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532382043	chr14:22393114-22393115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141955459	chr14:22393118-22393119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs8006384	chr14:22393124-22393125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs8007645	chr14:22393148-22393149	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs531993122	chr14:22393154-22393155	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115228655	chr14:22393174-22393175	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568644440	chr14:22393182-22393183	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs8007794	chr14:22393199-22393200	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs8007804	chr14:22393214-22393215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566588330	chr14:22393240-22393241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs8007829	chr14:22393246-22393247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs8012874	chr14:22393266-22393267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568767387	chr14:22393267-22393268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201209200	chr14:22393295-22393296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35954874	chr14:22393352-22393353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139109583	chr14:22393354-22393355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377191138	chr14:22393382-22393383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116056119	chr14:22393434-22393435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs36012830	chr14:22393439-22393440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35167138	chr14:22393446-22393447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145117669	chr14:22393458-22393459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35583044	chr14:22393465-22393466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562856793	chr14:22393511-22393512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34567185	chr14:22393513-22393514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34808520	chr14:22393541-22393542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368476068	chr14:22393567-22393568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562404158	chr14:22393574-22393575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74692207	chr14:22393596-22393597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548054863	chr14:22393602-22393603	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141724318	chr14:22393607-22393608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532189691	chr14:22393639-22393640	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371193180	chr14:22393651-22393652	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22389200-22395200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:22391400-22393200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:22391400-22393400	Enhancers	HUVEC	blood vessel
4	chr14:22391600-22392800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr14:22391800-22393200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:22392000-22392800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:22392000-22392800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr14:22392000-22393000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:22392200-22392800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr14:22392200-22392800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:22392200-22392800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr14:22392200-22392800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr14:22392200-22393000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:22392200-22393000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:22392200-22393000	Flanking Active TSS	Thymus	Thymus
16	chr14:22392200-22393200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr14:22392400-22392800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr14:22392400-22392800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr14:22392400-22392800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:22392400-22392800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr14:22392400-22392800	Flanking Active TSS	Fetal Thymus	thymus
22	chr14:22392400-22392800	Flanking Active TSS	Dnd41	blood
23	chr14:22392400-22393000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:22392400-22393000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:22392600-22392800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:22392600-22393000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:22392600-22394200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:22392800-22393600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:22392800-22393600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:22392800-22393800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:22392800-22394000	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:22392800-22394000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:22392800-22394200	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:22392800-22394200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:22392800-22394200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:22392800-22394400	Enhancers	Primary B cells from cord blood	blood
37	chr14:22392800-22394400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:22392800-22394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:22392800-22394400	Enhancers	Fetal Thymus	thymus
40	chr14:22392800-22394400	Enhancers	Dnd41	blood
41	chr14:22392800-22395000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:22393000-22393600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:22393000-22394200	Enhancers	Thymus	Thymus
44	chr14:22393000-22394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:22393000-22395000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:22393000-22399800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:22393200-22394200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:22393200-22394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:22393200-22395200	Enhancers	Primary T cells from cord blood	blood
50	chr14:22393600-22393800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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