Variant report

Variant	nsv882024
Chromosome Location	chr5:70072721-70498086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2233)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:2233 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70111622-70111924	GM12878	blood:	n/a	n/a
2	BATF	chr5:70196502-70196766	GM12878	blood:	n/a	n/a
3	BATF	chr5:70363259-70363809	GM12878	blood:	n/a	n/a
4	BATF	chr5:70473270-70473572	GM12878	blood:	n/a	n/a
5	BATF	chr5:70079574-70079848	GM12878	blood:	n/a	n/a
6	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
7	BATF	chr5:70128286-70128509	GM12878	blood:	n/a	n/a
8	BATF	chr5:70362170-70362374	GM12878	blood:	n/a	n/a
9	BATF	chr5:70111545-70111758	GM12878	blood:	n/a	n/a
10	BATF	chr5:70405611-70405957	GM12878	blood:	n/a	n/a
11	BATF	chr5:70363039-70363251	GM12878	blood:	n/a	n/a
12	BATF	chr5:70128209-70128538	GM12878	blood:	n/a	n/a
13	BATF	chr5:70079571-70079936	GM12878	blood:	n/a	n/a
14	BATF	chr5:70077815-70077970	GM12878	blood:	n/a	n/a
15	BATF	chr5:70362121-70362600	GM12878	blood:	n/a	n/a
16	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
17	BATF	chr5:70473436-70473649	GM12878	blood:	n/a	n/a
18	BATF	chr5:70280725-70281071	GM12878	blood:	n/a	n/a
19	BATF	chr5:70220674-70221170	GM12878	blood:	n/a	n/a
20	BATF	chr5:70363439-70363749	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:70362110-70362487	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:70363265-70363860	GM12878	blood:	n/a	chr5:70363563-70363572
23	BCL11A	chr5:70493340-70493531	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:70072902-70073162	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:70321346-70321632	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:70220624-70221392	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:70118611-70118969	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:70466234-70466446	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:70117626-70117799	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:70093092-70093280	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:70079642-70079844	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:70321231-70321752	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:70196728-70196959	GM12878	blood:	n/a	chr5:70196758-70196767 chr5:70196760-70196773
35	BCL11A	chr5:70405618-70405863	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:70079607-70079852	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:70467406-70467579	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:70106638-70106898	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:70091592-70091774	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:70084267-70084486	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:70466178-70466577	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:70072911-70073155	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:70497555-70497741	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:70491903-70492088	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:70118759-70118971	GM12878	blood:	n/a	n/a
46	BCL11A	chr5:70087413-70087602	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:70280732-70280977	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:70363241-70363801	GM12878	blood:	n/a	chr5:70363563-70363572
49	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:70196457-70197013	GM12878	blood:	n/a	chr5:70196716-70196729 chr5:70196758-70196767 chr5:70196760-70196773

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70308497-70308547	AG09319	gingival:	n/a
2	chr5:70372505-70372555	AoSMC	blood vessel:	n/a
3	chr5:70220559-70220609	HMEC	breast:	n/a
4	chr5:70372505-70372555	HNPCEpiC	eye:	n/a
5	chr5:70220559-70220609	GM19239	blood:	n/a
6	chr5:70218963-70219013	ECC-1	luminal epithelium:	n/a
7	chr5:70372505-70372555	PrEC	prostate:	n/a
8	chr5:70320693-70320743	AG04450	lung:	fetal
9	chr5:70220559-70220609	IMR90	lung:	fetal
10	chr5:70220559-70220609	HRCEpiC	kidney:	n/a
11	chr5:70218963-70219013	NH-A	brain:	n/a
12	chr5:70372505-70372555	HEK293	kidney:	embryo
13	chr5:70308497-70308547	T-47D	breast:	n/a
14	chr5:70220559-70220609	PFSK-1	brain:	n/a
15	chr5:70218963-70219013	Caco-2	colon:	n/a
16	chr5:70220559-70220609	GM12891	blood:	n/a
17	chr5:70372505-70372555	NT2-D1	testis:	n/a
18	chr5:70218963-70219013	ovcar-3	ovarian:	n/a
19	chr5:70309843-70309893	GM12892	blood:	n/a
20	chr5:70220559-70220609	ECC-1	luminal epithelium:	n/a
21	chr5:70309843-70309893	HepG2	liver:	n/a
22	chr5:70309843-70309893	GM12878	blood:	n/a
23	chr5:70218963-70219013	HEEpiC	esophagus:	n/a
24	chr5:70220559-70220609	CMK	blood:	n/a
25	chr5:70320693-70320743	H1-hESC	embryonic stem cell:	embryo
26	chr5:70320693-70320743	SK-N-SH	brain:	n/a
27	chr5:70308497-70308547	HEK293	kidney:	embryo
28	chr5:70372505-70372555	Jurkat	blood:	n/a
29	chr5:70246896-70246946	MCF10A-Er-Src	breast:	n/a
30	chr5:70246896-70246946	GM19239	blood:	n/a
31	chr5:70309843-70309893	AG04449	skin:	fetal
32	chr5:70246896-70246946	A549	lung:	n/a
33	chr5:70308497-70308547	HRCEpiC	kidney:	n/a
34	chr5:70220559-70220609	GM12892	blood:	n/a
35	chr5:70308497-70308547	GM06990	blood:	n/a
36	chr5:70320693-70320743	MCF-7	breast:	n/a
37	chr5:70220559-70220609	GM12878	blood:	n/a
38	chr5:70218963-70219013	MCF-7	breast:	n/a
39	chr5:70309843-70309893	AG04450	lung:	fetal
40	chr5:70246896-70246946	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:70320693-70320743	U87	brain:	n/a
42	chr5:70320693-70320743	NB4	blood:	n/a
43	chr5:70218963-70219013	PFSK-1	brain:	n/a
44	chr5:70220559-70220609	HEK293	kidney:	embryo
45	chr5:70220559-70220609	HL-60	blood:	n/a
46	chr5:70309843-70309893	HRPEpiC	eye:	n/a
47	chr5:70220559-70220609	RPTEC	kidney:	n/a
48	chr5:70372505-70372555	IMR90	lung:	fetal
49	chr5:70309843-70309893	NB4	blood:	n/a
50	chr5:70308497-70308547	NB4	blood:	n/a

No data

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-7	chr5:70492974-70493188	NONHSAT102005
2	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
3	lnc-GTF2H2-7	chr5:70493473-70493614	NONHSAT102003
4	lnc-SERF1A-2	chr5:70146637-70146751	NONHSAT101987
5	lnc-SMN1-2	chr5:70378669-70379081	NONHSAT101998
6	lnc-SERF1A-2	chr5:70149363-70149508	NONHSAT101987
7	lnc-NAIP-1	chr5:70360952-70361049	NONHSAT101997
8	lnc-GTF2H2-7	chr5:70493473-70493608	NONHSAT102005
9	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
10	lnc-GTF2H2-1	chr5:70328995-70329470	ENSG00000254353
11	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004
12	lnc-NAIP-1	chr5:70358579-70358623	NONHSAT101997
13	lnc-GTF2H2-1	chr5:70329997-70330227	ENSG00000254353
14	lnc-NAIP-1	chr5:70363123-70363465	NONHSAT101997
15	lnc-SERF1A-2	chr5:70091602-70091743	NONHSAT101987

No data

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

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

Variant related genes	Relation type
ENSG00000251634	TF binding region
NAIP	TF binding region
ENSG00000238451	TF binding region
CDH12P1	TF binding region
SERF1A	TF binding region
ENSG00000253366	TF binding region
ENSG00000230847	TF binding region
CDH12P4	TF binding region
GTF2H2	TF binding region
ENSG00000197284	TF binding region
ENSG00000254353	TF binding region
SMN1	TF binding region
GUSBP9	TF binding region
ENSG00000251634	CpG island
NAIP	CpG island
ENSG00000238451	CpG island
CDH12P1	CpG island
SERF1A	CpG island
ENSG00000253366	CpG island
ENSG00000230847	CpG island
CDH12P4	CpG island
GTF2H2	CpG island
ENSG00000197284	CpG island
ENSG00000254353	CpG island
SMN1	CpG island
GUSBP9	CpG island

Extended variants
information (count: 1139 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112746166	chr5:70073751-70073752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112640941	chr5:70073755-70073756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545653020	chr5:70074200-70074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371950758	chr5:70075326-70075327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377264674	chr5:70075389-70075390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368455916	chr5:70075443-70075444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575775472	chr5:70075444-70075445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542792008	chr5:70075777-70075778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111390317	chr5:70076121-70076122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112718781	chr5:70077257-70077258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201732480	chr5:70077281-70077282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111475385	chr5:70077849-70077850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373485732	chr5:70078449-70078450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554705304	chr5:70085653-70085654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62372661	chr5:70085893-70085894	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs62372662	chr5:70085982-70085983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79636010	chr5:70086041-70086042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376111661	chr5:70086170-70086171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367793284	chr5:70086227-70086228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375577188	chr5:70086241-70086242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371292027	chr5:70086318-70086319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200388467	chr5:70088251-70088252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs199509293	chr5:70088313-70088314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141982046	chr5:70088360-70088361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201193554	chr5:70088475-70088476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62372663	chr5:70090068-70090069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113874653	chr5:70090101-70090102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111885051	chr5:70090366-70090367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564966836	chr5:70090707-70090708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576812720	chr5:70090902-70090903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199763770	chr5:70091040-70091041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs534123319	chr5:70156421-70156422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs367811742	chr5:70156476-70156477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79701139	chr5:70196970-70196971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534876232	chr5:70218972-70218973	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs538431762	chr5:70220253-70220254	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs377439976	chr5:70220314-70220315	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372466088	chr5:70220317-70220318	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76153250	chr5:70220331-70220332	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558171591	chr5:70220416-70220417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370591054	chr5:70220417-70220418	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs563806805	chr5:70220424-70220425	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371229060	chr5:70220437-70220438	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375402327	chr5:70220438-70220439	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs113116645	chr5:70220548-70220549	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368267325	chr5:70220700-70220701	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs886766	chr5:70236155-70236156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs75251302	chr5:70237271-70237272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs104893927	chr5:70238194-70238195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs77804083	chr5:70238216-70238217	Weak transcription	TF binding region	1 gene(s)	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
Breast cancer	22522925	CNVD
Autism	21865298	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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70073000-70075400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:70074200-70074400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:70084800-70087200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:70220200-70220800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:70220200-70220800	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:70220400-70220800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:70220400-70220800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:70220400-70220800	Active TSS	Fetal Muscle Leg	muscle
9	chr5:70220400-70220800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:70220400-70220800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr5:70220400-70220800	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:70238000-70257800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:70238800-70247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:70239000-70252400	Weak transcription	Liver	Liver
15	chr5:70239400-70252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:70244400-70253000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:70244600-70250800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:70244800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:70245000-70253000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:70245000-70257600	Weak transcription	Fetal Stomach	stomach
21	chr5:70245200-70250600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:70245200-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:70245200-70258200	Weak transcription	Fetal Thymus	thymus
24	chr5:70245400-70252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:70246400-70252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:70246400-70252800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:70246400-70256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:70246400-70258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:70246600-70252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:70246800-70247400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:70247000-70259600	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:70247600-70248200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:70247600-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:70247600-70253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:70247800-70248200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:70247800-70248200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:70248200-70251600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:70248200-70256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:70248600-70251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:70248600-70251400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:70248600-70251400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:70248600-70251400	Weak transcription	Thymus	Thymus
43	chr5:70249000-70250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:70249200-70258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:70249200-70266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:70249400-70257600	Weak transcription	Dnd41	blood
47	chr5:70249600-70257800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:70249800-70252200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:70249800-70252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:70249800-70252200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links