Variant report

Variant	nsv602110
Chromosome Location	chr6:32355683-32361821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:32361449-32361736	K562	blood:	n/a	n/a
2	CEBPB	chr6:32358387-32358668	HepG2	liver:	n/a	chr6:32358561-32358572
3	CEBPB	chr6:32358422-32358696	IMR90	lung:	n/a	chr6:32358561-32358572
4	CEBPB	chr6:32358447-32358706	K562	blood:	n/a	chr6:32358561-32358572
5	CTCF	chr6:32361564-32361763	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:32361569-32361778	NHEK	skin:	n/a	n/a
7	CTCF	chr6:32361605-32361698	K562	blood:	n/a	n/a
8	CTCF	chr6:32361610-32361734	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:32361520-32361670	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr6:32361605-32361688	LNCaP	prostate:	n/a	n/a
11	CTCF	chr6:32361642-32361709	GM19238	blood:	n/a	n/a
12	CTCF	chr6:32361582-32361742	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:32361677-32361711	GM19239	blood:	n/a	n/a
14	CTCF	chr6:32359380-32359530	K562	blood:	n/a	n/a
15	CTCF	chr6:32361640-32361790	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:32361560-32361710	HMF	breast:	n/a	n/a
17	CTCF	chr6:32361626-32361734	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:32361580-32361730	RPTEC	kidney:	n/a	n/a
19	CTCF	chr6:32361580-32361730	AG09319	gingival:	n/a	n/a
20	CTCF	chr6:32361560-32361710	RPTEC	kidney:	n/a	n/a
21	CTCF	chr6:32361625-32361671	GM10266	blood:	n/a	n/a
22	CTCF	chr6:32361586-32361682	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr6:32361513-32361763	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr6:32361580-32361730	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr6:32361534-32361736	K562	blood:	n/a	n/a
26	CTCF	chr6:32361600-32361750	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr6:32361546-32361749	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr6:32361520-32361670	HMEC	breast:	n/a	n/a
29	CTCF	chr6:32361626-32361730	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:32361520-32361670	HRE	kidney:	n/a	n/a
31	CTCF	chr6:32361520-32361670	AG09319	gingival:	n/a	n/a
32	CTCF	chr6:32361520-32361670	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:32361520-32361670	HMF	breast:	n/a	n/a
34	CTCF	chr6:32361580-32361730	SAEC	small airway:	n/a	n/a
35	CTCF	chr6:32361560-32361710	HPAF	blood vessel:	n/a	n/a
36	E2F4	chr6:32359182-32359325	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:32361577-32361729	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:32360825-32361050	MCF10A-Er-Src	breast:	n/a	chr6:32360922-32360932
39	FOS	chr6:32360843-32361020	MCF10A-Er-Src	breast:	n/a	chr6:32360922-32360932
40	FOS	chr6:32360874-32360986	MCF10A-Er-Src	breast:	n/a	chr6:32360922-32360932
41	FOS	chr6:32361537-32361712	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr6:32361187-32361782	HUVEC	blood vessel:	n/a	n/a
43	GATA2	chr6:32361175-32362118	HUVEC	blood vessel:	n/a	chr6:32362101-32362111
44	GATA2	chr6:32361460-32361746	SH-SY5Y	brain:	n/a	n/a
45	GATA2	chr6:32361366-32361719	K562	blood:	n/a	n/a
46	GATA3	chr6:32361282-32361876	MCF-7	breast:	n/a	n/a
47	JUN	chr6:32361294-32361892	HUVEC	blood vessel:	n/a	n/a
48	JUND	chr6:32361531-32361535	H1-hESC	embryonic stem cell:	n/a	n/a
49	KAP1	chr6:32361265-32362046	HEK293	kidney:	n/a	n/a
50	KAP1	chr6:32361237-32362053	U2OS	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32358023..32360400-chr6:32361196..32362901,2	K562	blood:
2	chr6:32212577..32213569-chr6:32361133..32362153,5	MCF-7	breast:
3	chr6:32360990..32362711-chr6:32363289..32364863,2	K562	blood:
4	chr6:32360881..32363601-chr6:32363763..32366001,3	MCF-7	breast:
5	chr6:32356860..32358519-chr6:32360443..32363333,2	MCF-7	breast:
6	chr6:32212479..32213374-chr6:32361354..32361920,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-DRA-1	chr6:32361226-32361468	NONHSAT108902
2	lnc-HLA-DRA-1	chr6:32359390-32359517	ENSG00000228962.1
3	lnc-HLA-DRA-1	chr6:32360320-32361134	XLOC_005254
4	lnc-HLA-DRA-1	chr6:32358287-32358530	ENSG00000228962.1
5	lnc-HLA-DRA-1	chr6:32361226-32361247	XLOC_005254
6	lnc-HLA-DRA-1	chr6:32358287-32358530	NONHSAT108902
7	lnc-HLA-DRA-1	chr6:32361226-32361463	ENSG00000228962.1
8	lnc-HLA-DRA-1	chr6:32359390-32359517	NONHSAT108902

No data

Variant related genes	Relation type
HCG23	TF binding region
ENSG00000228962	chromatin interactions
DKK2	miRNA target sites

Extended variants
information (count: 365 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9268473	chr6:32355683-32355684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566326916	chr6:32355712-32355713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17202252	chr6:32355724-32355725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117727445	chr6:32355745-32355746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561013962	chr6:32355785-32355786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117898181	chr6:32355792-32355793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141134821	chr6:32355795-32355796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117439800	chr6:32355803-32355804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17208601	chr6:32355808-32355809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539121174	chr6:32355831-32355832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17208608	chr6:32355858-32355859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117395472	chr6:32355884-32355885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58821517	chr6:32355908-32355909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554973409	chr6:32355909-32355910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191360087	chr6:32355944-32355945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528367176	chr6:32355946-32355947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144845359	chr6:32355952-32355953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62402731	chr6:32355981-32355982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117057894	chr6:32356004-32356005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60440756	chr6:32356019-32356020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529007393	chr6:32356072-32356073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62402732	chr6:32356097-32356098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs146796469	chr6:32356102-32356103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148922613	chr6:32356151-32356152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78312903	chr6:32356201-32356202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67512154	chr6:32356242-32356243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs56921274	chr6:32356265-32356266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533796514	chr6:32356267-32356268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72843281	chr6:32356272-32356273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs60219037	chr6:32356307-32356308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553966255	chr6:32356340-32356341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369581425	chr6:32356343-32356344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs66955287	chr6:32356356-32356357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371568452	chr6:32356357-32356358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7771136	chr6:32356409-32356410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554919534	chr6:32356418-32356419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62402733	chr6:32356440-32356441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62402734	chr6:32356489-32356490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140970034	chr6:32356490-32356491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146772388	chr6:32356515-32356516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139218018	chr6:32356549-32356550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62402735	chr6:32356573-32356574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568251858	chr6:32356606-32356607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147532464	chr6:32356648-32356649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183841965	chr6:32356649-32356650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186979775	chr6:32356665-32356666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62402736	chr6:32356667-32356668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540120921	chr6:32356676-32356677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62402737	chr6:32356684-32356685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192802677	chr6:32356692-32356693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
2	chr6:32351400-32365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:32354800-32356000	Enhancers	GM12878-XiMat	blood
4	chr6:32354800-32356200	Enhancers	Fetal Intestine Small	intestine
5	chr6:32355000-32356000	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:32355000-32356400	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:32355200-32356200	Enhancers	Stomach Mucosa	stomach
8	chr6:32355400-32356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:32355400-32356200	Enhancers	Fetal Intestine Large	intestine
10	chr6:32355600-32358000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:32355800-32356400	Enhancers	Fetal Lung	lung
12	chr6:32356000-32357200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:32356000-32358000	Weak transcription	GM12878-XiMat	blood
14	chr6:32356000-32361400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:32356400-32364200	Weak transcription	Fetal Lung	lung
16	chr6:32356800-32360800	Weak transcription	Right Atrium	heart
17	chr6:32357200-32358600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:32358000-32358200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:32358000-32358400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:32358000-32358400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:32358000-32358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:32358000-32358400	Enhancers	GM12878-XiMat	blood
23	chr6:32358400-32360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:32358400-32361400	Weak transcription	GM12878-XiMat	blood
25	chr6:32358600-32360400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:32359600-32361200	Weak transcription	Fetal Brain Male	brain
27	chr6:32360400-32361000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:32360400-32362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:32360600-32361000	Enhancers	Left Ventricle	heart
30	chr6:32360600-32361000	Enhancers	NHEK	skin
31	chr6:32360600-32361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:32360600-32361200	Enhancers	HUVEC	blood vessel
33	chr6:32360600-32362000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:32360800-32361000	Enhancers	Right Atrium	heart
35	chr6:32360800-32361000	Enhancers	Spleen	Spleen
36	chr6:32360800-32361200	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:32360800-32361600	Enhancers	HMEC	breast
38	chr6:32360800-32362000	Enhancers	Fetal Muscle Leg	muscle
39	chr6:32360800-32362000	Enhancers	Hela-S3	cervix
40	chr6:32360800-32362800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:32360800-32362800	Enhancers	Esophagus	oesophagus
44	chr6:32361000-32361400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:32361000-32361800	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:32361000-32362200	Flanking Active TSS	NHEK	skin
47	chr6:32361000-32370600	Weak transcription	Spleen	Spleen
48	chr6:32361200-32361400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:32361200-32361400	Enhancers	Fetal Kidney	kidney
50	chr6:32361200-32361400	Flanking Active TSS	HUVEC	blood vessel

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