Variant report

Variant	nsv524115
Chromosome Location	chr4:26631178-26706342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:260)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:260 , 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	chr4:26693675-26693902	K562	blood:	n/a	n/a
2	ARID3A	chr4:26703022-26704108	K562	blood:	n/a	n/a
3	ATF1	chr4:26703388-26703759	K562	blood:	n/a	n/a
4	ATF2	chr4:26649342-26649807	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:26649333-26649777	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:26703327-26703786	K562	blood:	n/a	n/a
7	BCL11A	chr4:26649485-26649730	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr4:26693698-26693833	K562	blood:	n/a	n/a
9	BHLHE40	chr4:26703422-26703687	K562	blood:	n/a	n/a
10	BHLHE40	chr4:26701874-26702091	K562	blood:	n/a	n/a
11	BRCA1	chr4:26649660-26650055	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr4:26680913-26681214	K562	blood:	n/a	n/a
13	CBX3	chr4:26693569-26694127	K562	blood:	n/a	n/a
14	CBX3	chr4:26680779-26681312	K562	blood:	n/a	n/a
15	CCNT2	chr4:26703414-26703780	K562	blood:	n/a	chr4:26703610-26703630
16	CEBPB	chr4:26701817-26702090	K562	blood:	n/a	n/a
17	CEBPB	chr4:26686949-26687199	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:26693746-26693932	K562	blood:	n/a	n/a
19	CEBPB	chr4:26703325-26703868	HCT-116	colon:	n/a	n/a
20	CEBPB	chr4:26703315-26703678	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:26651015-26651207	K562	blood:	n/a	chr4:26651060-26651071
22	CEBPB	chr4:26651028-26651219	HepG2	liver:	n/a	chr4:26651060-26651071
23	CEBPB	chr4:26672155-26672408	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:26642813-26642913	HepG2	liver:	n/a	n/a
25	CEBPB	chr4:26703294-26703799	K562	blood:	n/a	n/a
26	CEBPB	chr4:26703207-26703893	HCT-116	colon:	n/a	n/a
27	CEBPB	chr4:26650945-26651212	IMR90	lung:	n/a	chr4:26651060-26651071
28	CEBPB	chr4:26701799-26702152	K562	blood:	n/a	n/a
29	CEBPB	chr4:26672177-26672377	IMR90	lung:	n/a	n/a
30	CEBPB	chr4:26703368-26703649	K562	blood:	n/a	n/a
31	CEBPB	chr4:26701848-26702061	K562	blood:	n/a	n/a
32	CEBPB	chr4:26672142-26672394	K562	blood:	n/a	n/a
33	CEBPB	chr4:26703274-26703832	K562	blood:	n/a	n/a
34	CEBPD	chr4:26693654-26693965	K562	blood:	n/a	n/a
35	CEBPD	chr4:26703330-26703794	K562	blood:	n/a	n/a
36	CEBPD	chr4:26703305-26703852	K562	blood:	n/a	n/a
37	CHD2	chr4:26693678-26693891	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr4:26649341-26649822	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr4:26652018-26652099	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr4:26688840-26688990	AG04450	lung:	n/a	n/a
41	CTCF	chr4:26642280-26642338	ProgFib	skin:	n/a	n/a
42	CTCF	chr4:26688860-26689010	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr4:26657393-26657425	LNCaP	prostate:	n/a	n/a
44	CTCF	chr4:26688840-26688990	HMF	breast:	n/a	n/a
45	CTCF	chr4:26703353-26703430	K562	blood:	n/a	n/a
46	CTCF	chr4:26688820-26688970	AG10803	skin:	n/a	n/a
47	CTCF	chr4:26642310-26642360	MCF-7	breast:	n/a	n/a
48	CUX1	chr4:26702756-26704289	K562	blood:	n/a	n/a
49	CUX1	chr4:26637530-26637787	K562	blood:	n/a	chr4:26637732-26637743 chr4:26637737-26637746 chr4:26637738-26637752
50	E2F4	chr4:26638779-26638979	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:26649548-26649598	AG09319	gingival:	n/a
2	chr4:26649548-26649598	HMEC	breast:	n/a
3	chr4:26649548-26649598	AG04450	lung:	fetal
4	chr4:26649548-26649598	HCT-116	colon:	n/a
5	chr4:26649548-26649598	BJ	skin:	n/a
6	chr4:26649548-26649598	SK-N-MC	brain:	n/a
7	chr4:26649548-26649598	T-47D	breast:	n/a
8	chr4:26649548-26649598	HEEpiC	esophagus:	n/a
9	chr4:26649548-26649598	SAEC	small airway:	n/a
10	chr4:26649548-26649598	IMR90	lung:	fetal
11	chr4:26649548-26649598	AG10803	skin:	n/a
12	chr4:26649548-26649598	NHBE	bronchial:	n/a
13	chr4:26649548-26649598	NB4	blood:	n/a
14	chr4:26649548-26649598	U87	brain:	n/a
15	chr4:26649548-26649598	AG04449	skin:	fetal
16	chr4:26649548-26649598	HRPEpiC	eye:	n/a
17	chr4:26649548-26649598	GM12878	blood:	n/a
18	chr4:26649548-26649598	HNPCEpiC	eye:	n/a
19	chr4:26649548-26649598	GM12892	blood:	n/a
20	chr4:26649548-26649598	A549	lung:	n/a
21	chr4:26649548-26649598	HUVEC	blood vessel:	n/a
22	chr4:26649548-26649598	HEK293	kidney:	embryo
23	chr4:26649548-26649598	HRE	kidney:	n/a
24	chr4:26649548-26649598	NT2-D1	testis:	n/a
25	chr4:26649548-26649598	PrEC	prostate:	n/a
26	chr4:26649548-26649598	GM19239	blood:	n/a
27	chr4:26649548-26649598	CMK	blood:	n/a
28	chr4:26649548-26649598	SK-N-SH_RA	brain:	n/a
29	chr4:26649548-26649598	MCF10A-Er-Src	breast:	n/a
30	chr4:26649548-26649598	HCM	heart:	n/a
31	chr4:26649548-26649598	HepG2	liver:	n/a
32	chr4:26649548-26649598	SK-N-SH	brain:	n/a
33	chr4:26649548-26649598	HCPEpiC	choroid plexus:	n/a
34	chr4:26649548-26649598	ovcar-3	ovarian:	n/a
35	chr4:26649548-26649598	MCF-7	breast:	n/a
36	chr4:26649548-26649598	Hela-S3	cervix:	n/a
37	chr4:26649548-26649598	AG09309	skin:	n/a
38	chr4:26649548-26649598	HIPEpiC	eye:	n/a
39	chr4:26649548-26649598	RPTEC	kidney:	n/a
40	chr4:26649548-26649598	GM12891	blood:	n/a
41	chr4:26649548-26649598	NHDF-neo	bronchial:	n/a
42	chr4:26649548-26649598	ECC-1	luminal epithelium:	n/a
43	chr4:26649548-26649598	Caco-2	colon:	n/a
44	chr4:26649548-26649598	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:26649548-26649598	HAEpiC	amniotic membrane:	n/a
46	chr4:26649548-26649598	HRCEpiC	kidney:	n/a
47	chr4:26649548-26649598	SKMC	muscle:	n/a
48	chr4:26649548-26649598	HL-60	blood:	n/a
49	chr4:26649548-26649598	Jurkat	blood:	n/a
50	chr4:26649548-26649598	GM06990	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:26680851..26682433-chr4:26686053..26687602,2	K562	blood:
2	chr4:26667642..26669884-chr4:26673933..26676753,2	K562	blood:
3	chr4:26662958..26665135-chr4:26667444..26669654,2	K562	blood:
4	chr4:26662958..26665135-chr4:26667444..26669654,2	K562	blood:
5	chr4:26674755..26676897-chr4:26682042..26683729,2	K562	blood:
6	chr4:26682077..26683738-chr4:26702158..26703835,2	K562	blood:
7	chr4:26684070..26686725-chr4:26688088..26690746,2	K562	blood:
8	chr4:26680851..26682433-chr4:26686053..26687602,2	K562	blood:
9	chr4:26625799..26628669-chr4:26629385..26631315,2	K562	blood:
10	chr4:26682077..26683738-chr4:26702158..26703835,2	K562	blood:
11	chr4:26674755..26676897-chr4:26682042..26683729,2	K562	blood:
12	chr4:26667642..26669884-chr4:26673933..26676753,2	K562	blood:
13	chr4:26684070..26686725-chr4:26688088..26690746,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200999	TF binding region
ENSG00000265627	TF binding region
ENSG00000200999	CpG island
ENSG00000265627	CpG island

Extended variants
information (count: 2821 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2821 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12233876	chr4:26631178-26631179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187981549	chr4:26631219-26631220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114815822	chr4:26631252-26631253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs260959	chr4:26631268-26631269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559380421	chr4:26631289-26631290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543960756	chr4:26631316-26631317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191436090	chr4:26631377-26631378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184691914	chr4:26631402-26631403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138017034	chr4:26631427-26631428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190744707	chr4:26631437-26631438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537082897	chr4:26631458-26631459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181675828	chr4:26631481-26631482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557409682	chr4:26631518-26631519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143378456	chr4:26631687-26631688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535606709	chr4:26631764-26631765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76379640	chr4:26631770-26631771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76998615	chr4:26631772-26631773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75497918	chr4:26631809-26631810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572017501	chr4:26631839-26631840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534731019	chr4:26631887-26631888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557602809	chr4:26631964-26631965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577545532	chr4:26632076-26632077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186857394	chr4:26632132-26632133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145784027	chr4:26632161-26632162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79358182	chr4:26632172-26632173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542762422	chr4:26632220-26632221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559918487	chr4:26632268-26632269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577208020	chr4:26632270-26632271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190001324	chr4:26632280-26632281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375315906	chr4:26632294-26632295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115527310	chr4:26632309-26632310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181121430	chr4:26632336-26632337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116787253	chr4:26632342-26632343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139687100	chr4:26632417-26632418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79395417	chr4:26632418-26632419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185864491	chr4:26632465-26632466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569919350	chr4:26632477-26632478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138899265	chr4:26632525-26632526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149331276	chr4:26632551-26632552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368333005	chr4:26632651-26632652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559441675	chr4:26632748-26632749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565853973	chr4:26632821-26632822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111658108	chr4:26632838-26632839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144539388	chr4:26632928-26632929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557833499	chr4:26632965-26632966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs260960	chr4:26632984-26632985	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536606568	chr4:26632993-26632994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79468263	chr4:26633005-26633006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115864459	chr4:26633016-26633017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189842047	chr4:26633032-26633033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26606400-26656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:26608800-26643600	Weak transcription	Fetal Heart	heart
3	chr4:26609600-26640000	Weak transcription	Left Ventricle	heart
4	chr4:26609600-26649400	Weak transcription	Psoas Muscle	Psoas
5	chr4:26609800-26632400	Weak transcription	Primary B cells from cord blood	blood
6	chr4:26611200-26639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:26613200-26634400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:26613400-26639600	Weak transcription	Fetal Brain Female	brain
9	chr4:26613800-26634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:26613800-26657200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:26614000-26633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:26614000-26638800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:26614000-26640600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:26614200-26641400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:26615000-26642000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:26615200-26634200	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:26615400-26638800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:26615600-26641800	Weak transcription	Brain Germinal Matrix	brain
19	chr4:26615600-26642000	Weak transcription	Aorta	Aorta
20	chr4:26615800-26635000	Weak transcription	Thymus	Thymus
21	chr4:26615800-26640200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:26616600-26639400	Weak transcription	Adipose Nuclei	Adipose
23	chr4:26616600-26641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:26616600-26641800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:26616600-26662600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:26617200-26642200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:26618000-26640400	Weak transcription	NH-A	brain
28	chr4:26618200-26634800	Weak transcription	Ovary	ovary
29	chr4:26618200-26638600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:26618200-26639800	Weak transcription	Fetal Brain Male	brain
31	chr4:26618200-26640000	Weak transcription	Fetal Intestine Large	intestine
32	chr4:26618200-26657200	Weak transcription	Pancreas	Pancrea
33	chr4:26618400-26639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:26618400-26642000	Weak transcription	Esophagus	oesophagus
35	chr4:26618600-26640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:26619600-26639600	Weak transcription	HSMMtube	muscle
37	chr4:26619600-26645600	Weak transcription	Spleen	Spleen
38	chr4:26619800-26634600	Weak transcription	Fetal Lung	lung
39	chr4:26619800-26640000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:26620000-26634400	Weak transcription	Primary T cells from cord blood	blood
41	chr4:26620200-26635600	Weak transcription	Liver	Liver
42	chr4:26620200-26642200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:26620400-26639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:26620600-26643800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:26621200-26642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:26621800-26639000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:26622000-26632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:26622000-26640600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:26622000-26641000	Weak transcription	HMEC	breast
50	chr4:26622000-26642400	Weak transcription	Brain Cingulate Gyrus	brain

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