Variant report

Variant	nsv830483
Chromosome Location	chr5:127595570-127705124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:245)
Chromatin interactive
region (count:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:127615805-127615946	K562	blood:	n/a	n/a
2	BACH1	chr5:127608820-127608917	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr5:127670004-127670302	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:127607905-127608058	K562	blood:	n/a	n/a
5	BRCA1	chr5:127607985-127607998	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr5:127685180-127685233	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr5:127626838-127626842	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:127651679-127652009	IMR90	lung:	n/a	n/a
9	CEBPB	chr5:127618669-127619008	HepG2	liver:	n/a	chr5:127618848-127618859
10	CEBPB	chr5:127626794-127626964	A549	lung:	n/a	n/a
11	CEBPB	chr5:127676759-127677102	HepG2	liver:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
12	CEBPB	chr5:127676771-127677102	MCF-7	breast:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
13	CEBPB	chr5:127651710-127651932	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:127651742-127651998	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:127626402-127627014	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr5:127676800-127677062	IMR90	lung:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
17	CEBPB	chr5:127651761-127651977	A549	lung:	n/a	n/a
18	CEBPB	chr5:127618689-127618986	IMR90	lung:	n/a	chr5:127618848-127618859
19	CEBPB	chr5:127607843-127608068	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr5:127676817-127677061	A549	lung:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
21	CEBPB	chr5:127691747-127692020	MCF-7	breast:	n/a	chr5:127691890-127691903
22	CEBPB	chr5:127676747-127677093	Hela-S3	cervix:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
23	CHD2	chr5:127607833-127608033	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr5:127648400-127648441	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr5:127674829-127674903	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr5:127686494-127686707	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:127600420-127600570	HPAF	blood vessel:	n/a	chr5:127600492-127600499
28	CTCF	chr5:127612440-127612590	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr5:127600340-127600490	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:127600380-127600530	WI-38	lung:	n/a	chr5:127600492-127600499
31	CTCF	chr5:127690140-127690290	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:127600400-127600550	HCFaa	heart:	n/a	chr5:127600492-127600499
33	CTCF	chr5:127612400-127612550	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr5:127663431-127663450	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr5:127612280-127612430	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr5:127690100-127690250	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr5:127686436-127686823	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:127686460-127686610	BE2_C	brain:	n/a	n/a
39	CTCF	chr5:127686493-127686688	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:127686490-127686700	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:127600420-127600570	AG04450	lung:	n/a	chr5:127600492-127600499
42	CTCF	chr5:127611835-127611905	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr5:127600500-127600650	HVMF	connective:	n/a	n/a
44	CTCF	chr5:127600380-127600530	HPAF	blood vessel:	n/a	chr5:127600492-127600499
45	CTCF	chr5:127606945-127606967	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:127600460-127600610	HRPEpiC	eye:	n/a	chr5:127600492-127600499
47	CTCF	chr5:127640340-127640490	GM12873	blood:	n/a	n/a
48	CTCF	chr5:127600400-127600550	HCPEpiC	choroid plexus:	n/a	chr5:127600492-127600499
49	CTCF	chr5:127686505-127686640	HepG2	liver:	n/a	n/a
50	CTCF	chr5:127612420-127612570	HRE	kidney:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:127598507-127598557	MCF10A-Er-Src	breast:	n/a
2	chr5:127598507-127598557	MCF10A-Er-Src	breast:	n/a
3	chr5:127598507-127598557	HL-60	blood:	n/a
4	chr5:127640424-127640474	PrEC	prostate:	n/a
5	chr5:127635270-127635320	AG04450	lung:	fetal
6	chr5:127635270-127635320	GM06990	blood:	n/a
7	chr5:127598507-127598557	AG04450	lung:	fetal
8	chr5:127640424-127640474	IMR90	lung:	fetal
9	chr5:127640424-127640474	SK-N-SH	brain:	n/a
10	chr5:127702985-127703035	HNPCEpiC	eye:	n/a
11	chr5:127598507-127598557	SAEC	small airway:	n/a
12	chr5:127598507-127598557	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:127635270-127635320	PANC-1	pancreas:	n/a
14	chr5:127702985-127703035	K562	blood:	n/a
15	chr5:127702985-127703035	SK-N-SH_RA	brain:	n/a
16	chr5:127640424-127640474	MCF-7	breast:	n/a
17	chr5:127598507-127598557	SK-N-SH	brain:	n/a
18	chr5:127702985-127703035	HAEpiC	amniotic membrane:	n/a
19	chr5:127640424-127640474	HAEpiC	amniotic membrane:	n/a
20	chr5:127702985-127703035	GM19239	blood:	n/a
21	chr5:127598507-127598557	HAEpiC	amniotic membrane:	n/a
22	chr5:127635270-127635320	HNPCEpiC	eye:	n/a
23	chr5:127635270-127635320	AG04449	skin:	fetal
24	chr5:127598507-127598557	NB4	blood:	n/a
25	chr5:127640424-127640474	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:127598507-127598557	BE2_C	brain:	n/a
27	chr5:127640424-127640474	U87	brain:	n/a
28	chr5:127702985-127703035	HRCEpiC	kidney:	n/a
29	chr5:127635270-127635320	AoSMC	blood vessel:	n/a
30	chr5:127640424-127640474	NT2-D1	testis:	n/a
31	chr5:127635270-127635320	HCF	heart:	n/a
32	chr5:127635270-127635320	LNCaP	prostate:	n/a
33	chr5:127635270-127635320	GM12892	blood:	n/a
34	chr5:127598507-127598557	HCT-116	colon:	n/a
35	chr5:127635270-127635320	CMK	blood:	n/a
36	chr5:127640424-127640474	BE2_C	brain:	n/a
37	chr5:127598507-127598557	RPTEC	kidney:	n/a
38	chr5:127635270-127635320	HCM	heart:	n/a
39	chr5:127635270-127635320	PrEC	prostate:	n/a
40	chr5:127635270-127635320	ovcar-3	ovarian:	n/a
41	chr5:127598507-127598557	GM12892	blood:	n/a
42	chr5:127640424-127640474	HNPCEpiC	eye:	n/a
43	chr5:127635270-127635320	H1-hESC	embryonic stem cell:	embryo
44	chr5:127640424-127640474	HRE	kidney:	n/a
45	chr5:127702985-127703035	HEEpiC	esophagus:	n/a
46	chr5:127598507-127598557	U87	brain:	n/a
47	chr5:127702985-127703035	HCT-116	colon:	n/a
48	chr5:127635270-127635320	ProgFib	skin:	n/a
49	chr5:127598507-127598557	BJ	skin:	n/a
50	chr5:127702985-127703035	CMK	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127673442..127675175-chr5:127677395..127679627,2	MCF-7	breast:
2	chr5:127592052..127594063-chr5:127598247..127600436,2	K562	blood:
3	chr5:127616622..127618564-chr5:127626677..127628253,2	K562	blood:
4	chr5:127650857..127653775-chr5:127653793..127656272,3	MCF-7	breast:
5	chr5:127611003..127612577-chr5:127622230..127624311,2	MCF-7	breast:
6	chr5:127587584..127589837-chr5:127596586..127599055,2	K562	blood:
7	chr5:127663410..127665396-chr5:127666243..127668383,2	K562	blood:
8	chr5:127609023..127610896-chr5:127612305..127614881,2	MCF-7	breast:
9	chr5:127663410..127665396-chr5:127666243..127668383,2	K562	blood:
10	chr5:127650857..127653775-chr5:127653793..127656272,3	MCF-7	breast:
11	chr5:127548856..127549541-chr5:127686521..127687077,2	MCF-7	breast:
12	chr5:127616622..127618564-chr5:127626677..127628253,2	K562	blood:
13	chr5:127611003..127612577-chr5:127622230..127624311,2	MCF-7	breast:
14	chr5:127609023..127610896-chr5:127612305..127614881,2	MCF-7	breast:
15	chr5:127590444..127593312-chr5:127595170..127597999,2	K562	blood:
16	chr5:127676675..127678219-chr6:7543128..7545962,2	K562	blood:
17	chr5:127548617..127549644-chr5:127686173..127687070,3	MCF-7	breast:
18	chr5:127664970..127667943-chr5:127669467..127671261,2	K562	blood:
19	chr5:127664970..127667943-chr5:127669467..127671261,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A2-5	chr5:127702085-127702116	NONHSAT103661
2	lnc-SLC12A2-5	chr5:127675079-127675679	NONHSAT103661

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FBN2	hsa-miR-149-5p	chr5:127664175-127664197
2	FBN2	hsa-miR-30d-5p	chr5:127664021-127664042

Variant related genes	Relation type
FBN2	TF binding region
FBN2	CpG island
ENSG00000138829	chromatin interactions

Extended variants
information (count: 4282 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4282 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551366458	chr5:127595575-127595576	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571122100	chr5:127595590-127595591	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537367249	chr5:127595597-127595598	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115772552	chr5:127595611-127595612	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573969125	chr5:127595626-127595627	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191466032	chr5:127595657-127595658	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368105365	chr5:127595685-127595686	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372385872	chr5:127595723-127595724	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573287463	chr5:127595725-127595726	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149895793	chr5:127595792-127595793	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143887155	chr5:127595876-127595877	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78246317	chr5:127595916-127595917	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575521375	chr5:127595944-127595945	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544178490	chr5:127595958-127595959	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561278912	chr5:127595997-127595998	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373337488	chr5:127596010-127596011	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530326755	chr5:127596027-127596028	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546794516	chr5:127596041-127596042	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs55695987	chr5:127596060-127596061	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528205026	chr5:127596067-127596068	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148607486	chr5:127596089-127596090	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35525387	chr5:127596114-127596115	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11739001	chr5:127596119-127596120	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571301078	chr5:127596145-127596146	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537079973	chr5:127596231-127596232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184668695	chr5:127596283-127596284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568218738	chr5:127596286-127596287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144549501	chr5:127596305-127596306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536502749	chr5:127596330-127596331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553139116	chr5:127596457-127596458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142902463	chr5:127596487-127596488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572914526	chr5:127596488-127596489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375623649	chr5:127596556-127596557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539145164	chr5:127596580-127596581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79574561	chr5:127596586-127596587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575317979	chr5:127596617-127596618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544239296	chr5:127596670-127596671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554497021	chr5:127596823-127596824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190213646	chr5:127596852-127596853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540491342	chr5:127596856-127596857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550362439	chr5:127596862-127596863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532627106	chr5:127596879-127596880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73341374	chr5:127596908-127596909	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556947442	chr5:127596942-127596943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73784558	chr5:127596945-127596946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570738127	chr5:127597082-127597083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182397513	chr5:127597087-127597088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141376190	chr5:127597112-127597113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377666679	chr5:127597136-127597137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34956645	chr5:127597231-127597232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588800-127613400	Weak transcription	Ovary	ovary
2	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
3	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:127589200-127612200	Weak transcription	Osteobl	bone
5	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:127591400-127598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:127591800-127598400	Weak transcription	Right Ventricle	heart
9	chr5:127592200-127606600	Weak transcription	NH-A	brain
10	chr5:127592400-127596400	Weak transcription	NHEK	skin
11	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:127592600-127597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127592600-127597400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:127592600-127598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:127592600-127598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
17	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
18	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127592800-127597400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:127592800-127624400	Weak transcription	A549	lung
22	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:127593000-127597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:127593400-127597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:127593400-127600400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:127593800-127596200	Enhancers	Fetal Thymus	thymus
28	chr5:127593800-127597200	Weak transcription	Fetal Intestine Large	intestine
29	chr5:127593800-127597400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:127593800-127598400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:127593800-127599400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:127593800-127600800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:127594000-127595800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr5:127594000-127598600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:127594000-127599400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:127594000-127599600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:127594200-127595600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr5:127594200-127600000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:127594400-127596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:127594400-127598600	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:127594400-127599600	Weak transcription	Gastric	stomach
43	chr5:127594600-127597200	Weak transcription	Fetal Lung	lung
44	chr5:127594600-127597400	Weak transcription	Fetal Heart	heart
45	chr5:127594600-127598400	Weak transcription	Fetal Kidney	kidney
46	chr5:127594600-127601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:127594800-127596000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:127594800-127596600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:127594800-127598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:127594800-127613600	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links