Variant report

Variant	nsv598557
Chromosome Location	chr5:70238324-70462636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:958)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70363439-70363749	GM12878	blood:	n/a	n/a
2	BATF	chr5:70280725-70281071	GM12878	blood:	n/a	n/a
3	BATF	chr5:70362170-70362374	GM12878	blood:	n/a	n/a
4	BATF	chr5:70362121-70362600	GM12878	blood:	n/a	n/a
5	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
6	BATF	chr5:70405611-70405957	GM12878	blood:	n/a	n/a
7	BATF	chr5:70363259-70363809	GM12878	blood:	n/a	n/a
8	BATF	chr5:70363039-70363251	GM12878	blood:	n/a	n/a
9	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70362110-70362487	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70363241-70363801	GM12878	blood:	n/a	chr5:70363563-70363572
12	BCL11A	chr5:70321231-70321752	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:70280732-70280977	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:70321346-70321632	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:70363265-70363860	GM12878	blood:	n/a	chr5:70363563-70363572
18	BCL11A	chr5:70405618-70405863	GM12878	blood:	n/a	n/a
19	BHLHE40	chr5:70308373-70308538	K562	blood:	n/a	n/a
20	BHLHE40	chr5:70309992-70310192	K562	blood:	n/a	n/a
21	BHLHE40	chr5:70435263-70435547	HepG2	liver:	n/a	n/a
22	BHLHE40	chr5:70363384-70363696	HepG2	liver:	n/a	chr5:70363608-70363624 chr5:70363624-70363640
23	CBX3	chr5:70362704-70364093	K562	blood:	n/a	n/a
24	CBX3	chr5:70363327-70363979	K562	blood:	n/a	n/a
25	CEBPB	chr5:70302942-70303152	HepG2	liver:	n/a	chr5:70303123-70303134 chr5:70303121-70303132 chr5:70303121-70303134
26	CEBPB	chr5:70303102-70303296	IMR90	lung:	n/a	chr5:70303123-70303134 chr5:70303121-70303132 chr5:70303121-70303134
27	CEBPB	chr5:70362066-70362404	K562	blood:	n/a	n/a
28	CEBPB	chr5:70362898-70363936	GM12878	blood:	n/a	n/a
29	CEBPB	chr5:70310098-70310378	HepG2	liver:	n/a	chr5:70310216-70310227
30	CEBPB	chr5:70362104-70362275	K562	blood:	n/a	n/a
31	CEBPB	chr5:70393343-70393363	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr5:70310102-70310319	K562	blood:	n/a	chr5:70310216-70310227
33	CEBPD	chr5:70363322-70363798	K562	blood:	n/a	n/a
34	CEBPD	chr5:70301831-70302230	K562	blood:	n/a	n/a
35	CTCF	chr5:70279907-70280011	GM10248	blood:	n/a	n/a
36	CTCF	chr5:70363469-70363742	Medullo	brain:	n/a	n/a
37	CTCF	chr5:70363343-70363808	K562	blood:	n/a	n/a
38	CTCF	chr5:70363584-70363712	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:70309500-70309650	HEK293	kidney:	n/a	n/a
40	CTCF	chr5:70363345-70363733	GM10248	blood:	n/a	n/a
41	CTCF	chr5:70309520-70309670	Caco-2	colon:	n/a	n/a
42	CTCF	chr5:70302937-70302985	Medullo	brain:	n/a	n/a
43	CTCF	chr5:70363389-70363760	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr5:70335083-70335203	Medullo	brain:	n/a	n/a
45	CTCF	chr5:70309504-70309625	HepG2	liver:	n/a	n/a
46	CTCF	chr5:70363628-70363698	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr5:70385770-70385788	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr5:70309471-70309695	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:70366045-70366103	GM10248	blood:	n/a	n/a
50	CTCF	chr5:70363591-70363716	GM19240	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70308497-70308547	HMEC	breast:	n/a
2	chr5:70320693-70320743	LNCaP	prostate:	n/a
3	chr5:70320693-70320743	AG09309	skin:	n/a
4	chr5:70246896-70246946	AG09319	gingival:	n/a
5	chr5:70320693-70320743	Jurkat	blood:	n/a
6	chr5:70309843-70309893	SAEC	small airway:	n/a
7	chr5:70309843-70309893	MCF10A-Er-Src	breast:	n/a
8	chr5:70320693-70320743	GM12892	blood:	n/a
9	chr5:70246896-70246946	U87	brain:	n/a
10	chr5:70246896-70246946	BJ	skin:	n/a
11	chr5:70320693-70320743	NT2-D1	testis:	n/a
12	chr5:70246896-70246946	GM12891	blood:	n/a
13	chr5:70372505-70372555	HepG2	liver:	n/a
14	chr5:70320693-70320743	HEK293	kidney:	embryo
15	chr5:70372505-70372555	CMK	blood:	n/a
16	chr5:70320693-70320743	Hepatocyte	liver:	n/a
17	chr5:70308497-70308547	HRCEpiC	kidney:	n/a
18	chr5:70309843-70309893	HUVEC	blood vessel:	n/a
19	chr5:70309843-70309893	HepG2	liver:	n/a
20	chr5:70309843-70309893	GM12878	blood:	n/a
21	chr5:70246896-70246946	MCF-7	breast:	n/a
22	chr5:70308497-70308547	CMK	blood:	n/a
23	chr5:70246896-70246946	Hela-S3	cervix:	n/a
24	chr5:70372505-70372555	ovcar-3	ovarian:	n/a
25	chr5:70372505-70372555	NB4	blood:	n/a
26	chr5:70309843-70309893	SK-N-MC	brain:	n/a
27	chr5:70309843-70309893	HEEpiC	esophagus:	n/a
28	chr5:70246896-70246946	GM12878	blood:	n/a
29	chr5:70308497-70308547	Caco-2	colon:	n/a
30	chr5:70320693-70320743	HCM	heart:	n/a
31	chr5:70372505-70372555	ECC-1	luminal epithelium:	n/a
32	chr5:70320693-70320743	PFSK-1	brain:	n/a
33	chr5:70372505-70372555	LNCaP	prostate:	n/a
34	chr5:70309843-70309893	Jurkat	blood:	n/a
35	chr5:70246896-70246946	IMR90	lung:	fetal
36	chr5:70372505-70372555	GM12878	blood:	n/a
37	chr5:70246896-70246946	HMEC	breast:	n/a
38	chr5:70308497-70308547	ProgFib	skin:	n/a
39	chr5:70246896-70246946	HepG2	liver:	n/a
40	chr5:70308497-70308547	Hepatocyte	liver:	n/a
41	chr5:70372505-70372555	U87	brain:	n/a
42	chr5:70309843-70309893	PFSK-1	brain:	n/a
43	chr5:70246896-70246946	Hepatocyte	liver:	n/a
44	chr5:70309843-70309893	CMK	blood:	n/a
45	chr5:70320693-70320743	AG04450	lung:	fetal
46	chr5:70308497-70308547	PrEC	prostate:	n/a
47	chr5:70320693-70320743	HAEpiC	amniotic membrane:	n/a
48	chr5:70320693-70320743	MCF10A-Er-Src	breast:	n/a
49	chr5:70309843-70309893	GM19239	blood:	n/a
50	chr5:70309843-70309893	RPTEC	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-1	chr5:70329997-70330227	ENSG00000254353
2	lnc-NAIP-1	chr5:70360952-70361049	NONHSAT101997
3	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
4	lnc-GTF2H2-1	chr5:70328995-70329470	ENSG00000254353
5	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
6	lnc-NAIP-1	chr5:70363123-70363465	NONHSAT101997
7	lnc-NAIP-1	chr5:70358579-70358623	NONHSAT101997
8	lnc-SMN1-2	chr5:70378669-70379081	NONHSAT101998

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SMN2	hsa-miR-132-3p	chr5:70248617-70248638
2	GTF2H2	hsa-miR-30a-5p	chr5:70331287-70331308
3	SMN2	hsa-miR-30a-5p	chr5:70248784-70248805
4	SMN2	hsa-miR-186-5p	chr5:70248811-70248834

Variant related genes	Relation type
ENSG00000251634	TF binding region
NAIP	TF binding region
ENSG00000238451	TF binding region
ENSG00000230847	TF binding region
CDH12P4	TF binding region
GTF2H2	TF binding region
ENSG00000254353	TF binding region
SMN1	TF binding region
ENSG00000251634	CpG island
NAIP	CpG island
ENSG00000238451	CpG island
ENSG00000230847	CpG island
CDH12P4	CpG island
GTF2H2	CpG island
ENSG00000254353	CpG island
SMN1	CpG island

Extended variants
information (count: 1050 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77491186	chr5:70238324-70238325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75991011	chr5:70238354-70238355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4915	chr5:70238373-70238374	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs80145309	chr5:70238628-70238629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529177121	chr5:70239642-70239643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547276642	chr5:70239654-70239655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199914491	chr5:70239655-70239656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559327671	chr5:70240033-70240034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533151631	chr5:70240036-70240037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562235784	chr5:70240056-70240057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76920869	chr5:70240060-70240061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551243363	chr5:70240061-70240062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79784540	chr5:70240540-70240541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551335741	chr5:70241398-70241399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372443544	chr5:70241399-70241400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540134415	chr5:70241461-70241462	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs77871384	chr5:70241938-70241939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs104893932	chr5:70241953-70241954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs104893922	chr5:70241984-70241985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77301881	chr5:70241992-70241993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569742819	chr5:70242033-70242034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537109840	chr5:70242034-70242035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549021588	chr5:70245766-70245767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575400248	chr5:70245830-70245831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs212225	chr5:70245876-70245877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567249557	chr5:70245908-70245909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535379327	chr5:70245928-70245929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369715778	chr5:70245937-70245938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190526531	chr5:70246015-70246016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578148208	chr5:70246089-70246090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539230320	chr5:70246093-70246094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373410010	chr5:70246167-70246168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2515824	chr5:70246175-70246176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557235445	chr5:70246239-70246240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567115648	chr5:70246245-70246246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575353659	chr5:70246273-70246274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200860043	chr5:70246488-70246489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542688670	chr5:70246508-70246509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112240973	chr5:70246523-70246524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374090296	chr5:70246527-70246528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560982493	chr5:70246668-70246669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572894032	chr5:70246745-70246746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540977118	chr5:70246789-70246790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559605094	chr5:70246797-70246798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533038284	chr5:70246820-70246821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377124062	chr5:70246834-70246835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554559198	chr5:70246846-70246847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58904338	chr5:70246847-70246848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182485579	chr5:70246863-70246864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114181047	chr5:70246867-70246868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Disease	19212409	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70238000-70257800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:70238800-70247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:70239000-70252400	Weak transcription	Liver	Liver
4	chr5:70239400-70252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:70244400-70253000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:70244600-70250800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:70244800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:70245000-70253000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:70245000-70257600	Weak transcription	Fetal Stomach	stomach
10	chr5:70245200-70250600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:70245200-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:70245200-70258200	Weak transcription	Fetal Thymus	thymus
13	chr5:70245400-70252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:70246400-70252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:70246400-70252800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:70246400-70256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:70246400-70258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:70246600-70252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:70246800-70247400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:70247000-70259600	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:70247600-70248200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:70247600-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:70247600-70253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:70247800-70248200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:70247800-70248200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:70248200-70251600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:70248200-70256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:70248600-70251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:70248600-70251400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:70248600-70251400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:70248600-70251400	Weak transcription	Thymus	Thymus
32	chr5:70249000-70250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:70249200-70258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:70249200-70266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:70249400-70257600	Weak transcription	Dnd41	blood
36	chr5:70249600-70257800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:70249800-70252200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:70249800-70252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:70249800-70252200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:70249800-70252200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:70250600-70251600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:70250800-70251000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:70250800-70251000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:70250800-70251200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:70250800-70251200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:70251000-70251200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:70251000-70251600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:70251200-70251600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:70251200-70257800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:70251600-70256600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links