Variant report

Variant	nsv537870
Chromosome Location	chr5:115397834-115563533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1459)
CpG islands
(count:734)
Chromatin interactive
region (count:65)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1459 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115420453-115420725	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:115410898-115411078	K562	blood:	n/a	n/a
3	ARID3A	chr5:115473442-115473811	K562	blood:	n/a	n/a
4	ARID3A	chr5:115403795-115404079	K562	blood:	n/a	n/a
5	ARID3A	chr5:115420927-115421286	HepG2	liver:	n/a	n/a
6	ATF1	chr5:115410893-115411113	K562	blood:	n/a	n/a
7	ATF1	chr5:115426098-115426398	K562	blood:	n/a	n/a
8	ATF1	chr5:115420602-115421231	K562	blood:	n/a	n/a
9	ATF2	chr5:115412006-115412690	GM12878	blood:	n/a	n/a
10	ATF2	chr5:115411962-115412753	GM12878	blood:	n/a	n/a
11	ATF2	chr5:115420461-115421375	GM12878	blood:	n/a	n/a
12	ATF2	chr5:115470974-115471521	GM12878	blood:	n/a	n/a
13	ATF2	chr5:115420612-115421281	GM12878	blood:	n/a	n/a
14	ATF3	chr5:115420907-115421300	K562	blood:	n/a	n/a
15	ATF3	chr5:115420925-115421272	GM12878	blood:	n/a	n/a
16	ATF3	chr5:115420549-115421037	A549	lung:	n/a	n/a
17	BACH1	chr5:115420883-115421200	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr5:115412087-115412508	GM12878	blood:	n/a	n/a
19	BATF	chr5:115411990-115412543	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:115420926-115421266	GM12878	blood:	n/a	chr5:115421155-115421164
21	BCL11A	chr5:115471127-115471339	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:115412199-115412507	GM12878	blood:	n/a	chr5:115412389-115412398
23	BCL11A	chr5:115412115-115412634	GM12878	blood:	n/a	chr5:115412389-115412398
24	BCL3	chr5:115412069-115412535	GM12878	blood:	n/a	chr5:115412389-115412398
25	BCL3	chr5:115420758-115421173	GM12878	blood:	n/a	chr5:115421155-115421164 chr5:115420882-115420895 chr5:115420881-115420894 chr5:115420883-115420892 chr5:115420885-115420898
26	BCLAF1	chr5:115420554-115421384	GM12878	blood:	n/a	chr5:115420683-115420692 chr5:115421155-115421164 chr5:115420882-115420895 chr5:115420881-115420894 chr5:115420883-115420892 chr5:115420683-115420696 chr5:115420885-115420898
27	BCLAF1	chr5:115412047-115412635	GM12878	blood:	n/a	chr5:115412389-115412398
28	BCLAF1	chr5:115470941-115471450	GM12878	blood:	n/a	n/a
29	BCLAF1	chr5:115420452-115421349	GM12878	blood:	n/a	chr5:115420683-115420692 chr5:115421155-115421164 chr5:115420882-115420895 chr5:115420881-115420894 chr5:115420883-115420892 chr5:115420683-115420696 chr5:115420885-115420898
30	BHLHE40	chr5:115419924-115421396	K562	blood:	n/a	n/a
31	BHLHE40	chr5:115480730-115480840	GM12878	blood:	n/a	n/a
32	BHLHE40	chr5:115420576-115421337	GM12878	blood:	n/a	n/a
33	BHLHE40	chr5:115413951-115414175	GM12878	blood:	n/a	n/a
34	BHLHE40	chr5:115420619-115421288	HepG2	liver:	n/a	n/a
35	BHLHE40	chr5:115482933-115482935	K562	blood:	n/a	n/a
36	BHLHE40	chr5:115403825-115404009	GM12878	blood:	n/a	n/a
37	BRCA1	chr5:115420925-115421346	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr5:115420095-115420104	GM12878	blood:	n/a	n/a
39	CBX3	chr5:115449116-115449355	K562	blood:	n/a	n/a
40	CBX3	chr5:115420408-115421446	HCT-116	colon:	n/a	n/a
41	CBX3	chr5:115449152-115449447	K562	blood:	n/a	n/a
42	CBX3	chr5:115420890-115421282	K562	blood:	n/a	n/a
43	CBX3	chr5:115419829-115420351	K562	blood:	n/a	n/a
44	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
45	CBX3	chr5:115421800-115422397	K562	blood:	n/a	n/a
46	CBX3	chr5:115397944-115398492	HCT-116	colon:	n/a	n/a
47	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
48	CBX3	chr5:115420878-115421398	K562	blood:	n/a	n/a
49	CCNT2	chr5:115420540-115421193	K562	blood:	n/a	n/a
50	CEBPB	chr5:115468986-115469373	K562	blood:	n/a	chr5:115469174-115469183 chr5:115469174-115469183 chr5:115469174-115469183 chr5:115469172-115469183 chr5:115469169-115469186

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115420582-115420632	ProgFib	skin:	n/a
2	chr5:115418530-115418580	AG04450	lung:	fetal
3	chr5:115420582-115420632	ProgFib	skin:	n/a
4	chr5:115418530-115418580	AG04450	lung:	fetal
5	chr5:115420582-115420632	HRPEpiC	eye:	n/a
6	chr5:115418530-115418580	NH-A	brain:	n/a
7	chr5:115421152-115421202	HRE	kidney:	n/a
8	chr5:115420761-115420811	HIPEpiC	eye:	n/a
9	chr5:115420544-115420594	AG10803	skin:	n/a
10	chr5:115421035-115421085	HMEC	breast:	n/a
11	chr5:115419633-115419683	SK-N-MC	brain:	n/a
12	chr5:115421194-115421244	U87	brain:	n/a
13	chr5:115419881-115419931	NB4	blood:	n/a
14	chr5:115419881-115419931	HIPEpiC	eye:	n/a
15	chr5:115425060-115425110	HIPEpiC	eye:	n/a
16	chr5:115420761-115420811	SAEC	small airway:	n/a
17	chr5:115420544-115420594	GM06990	blood:	n/a
18	chr5:115418530-115418580	CMK	blood:	n/a
19	chr5:115419633-115419683	ProgFib	skin:	n/a
20	chr5:115420761-115420811	LNCaP	prostate:	n/a
21	chr5:115420544-115420594	NT2-D1	testis:	n/a
22	chr5:115420761-115420811	GM12878	blood:	n/a
23	chr5:115420814-115420864	HIPEpiC	eye:	n/a
24	chr5:115421035-115421085	HUVEC	blood vessel:	n/a
25	chr5:115425060-115425110	HMEC	breast:	n/a
26	chr5:115421152-115421202	AG09309	skin:	n/a
27	chr5:115418530-115418580	HCF	heart:	n/a
28	chr5:115419881-115419931	MCF-7	breast:	n/a
29	chr5:115420544-115420594	NHDF-neo	bronchial:	n/a
30	chr5:115420814-115420864	T-47D	breast:	n/a
31	chr5:115419881-115419931	HepG2	liver:	n/a
32	chr5:115420814-115420864	U87	brain:	n/a
33	chr5:115421194-115421244	Jurkat	blood:	n/a
34	chr5:115420814-115420864	PrEC	prostate:	n/a
35	chr5:115420544-115420594	PFSK-1	brain:	n/a
36	chr5:115450589-115450639	HAEpiC	amniotic membrane:	n/a
37	chr5:115420814-115420864	HCPEpiC	choroid plexus:	n/a
38	chr5:115419633-115419683	NH-A	brain:	n/a
39	chr5:115419881-115419931	PANC-1	pancreas:	n/a
40	chr5:115425060-115425110	K562	blood:	n/a
41	chr5:115420814-115420864	GM19239	blood:	n/a
42	chr5:115425060-115425110	NHDF-neo	bronchial:	n/a
43	chr5:115450589-115450639	SK-N-SH	brain:	n/a
44	chr5:115420544-115420594	ProgFib	skin:	n/a
45	chr5:115421152-115421202	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:115421152-115421202	IMR90	lung:	fetal
47	chr5:115418530-115418580	MCF-7	breast:	n/a
48	chr5:115419633-115419683	HCM	heart:	n/a
49	chr5:115420544-115420594	SK-N-SH_RA	brain:	n/a
50	chr5:115420582-115420632	SK-N-SH	brain:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:115413293..115416934-chr5:115419212..115422160,5	MCF-7	breast:
2	chr4:184425377..184425891-chr5:115420080..115420819,2	Hela-S3	cervix:
3	chr5:115418695..115421478-chr5:115430804..115432304,2	K562	blood:
4	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
5	chr5:115396887..115398526-chr5:115419327..115421130,2	MCF-7	breast:
6	chr5:114645305..114646120-chr5:115403049..115404011,2	K562	blood:
7	chr5:115410908..115413272-chr5:115413402..115416355,3	MCF-7	breast:
8	chr5:115402359..115404249-chr5:115418524..115420135,2	K562	blood:
9	chr5:115473291..115473804-chr5:116283477..116284254,2	MCF-7	breast:
10	chr5:115420095..115422778-chr5:115430686..115433212,3	MCF-7	breast:
11	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:
12	chr5:115177392..115178980-chr5:115419410..115421076,2	MCF-7	breast:
13	chr5:115423355..115429096-chr5:115429659..115434037,6	K562	blood:
14	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:
15	chr5:115409968..115416849-chr5:115417165..115422986,15	K562	blood:
16	chr5:115412238..115416929-chr5:115418524..115421820,7	MCF-7	breast:
17	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
18	chr5:115402497..115406004-chr5:115407456..115411248,3	K562	blood:
19	chr5:115418542..115422487-chr5:115423504..115427625,5	MCF-7	breast:
20	chr5:115175667..115177540-chr5:115402481..115405777,3	MCF-7	breast:
21	chr5:115419680..115422174-chr5:115452572..115455057,2	MCF-7	breast:
22	chr5:115418515..115421238-chr5:115424044..115426973,2	MCF-7	breast:
23	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:
24	chr5:114970091..114970643-chr5:115403493..115404412,2	MCF-7	breast:
25	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
26	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:
27	chr5:115418515..115421238-chr5:115424044..115426973,2	MCF-7	breast:
28	chr5:115418542..115422487-chr5:115423504..115427625,5	MCF-7	breast:
29	chr5:114970518..114971324-chr5:115403283..115404403,4	K562	blood:
30	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
31	chr5:115176142..115179137-chr5:115398497..115401222,2	MCF-7	breast:
32	chr5:115374690..115376752-chr5:115422929..115424884,2	K562	blood:
33	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
34	chr5:115412238..115416929-chr5:115418524..115421820,7	MCF-7	breast:
35	chr5:115420205..115422091-chr5:138940296..138941951,2	MCF-7	breast:
36	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
37	chr5:115467424..115470198-chr5:115480020..115482745,2	K562	blood:
38	chr5:115177015..115179299-chr5:115418616..115421272,3	K562	blood:
39	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:
40	chr5:115409539..115411253-chr5:115413731..115416467,2	K562	blood:
41	chr5:115420835..115421447-chr6:89789827..89790793,2	HCT-116	colon:
42	chr5:115176313..115177935-chr5:115421458..115423669,2	MCF-7	breast:
43	chr5:115413293..115416934-chr5:115419212..115422160,5	MCF-7	breast:
44	chr5:115402359..115404249-chr5:115418524..115420135,2	K562	blood:
45	chr5:115379944..115382363-chr5:115409164..115412094,2	MCF-7	breast:
46	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
47	chr5:115405163..115410303-chr5:115417488..115422793,7	K562	blood:
48	chr5:115223474..115224422-chr5:115405380..115406073,2	MCF-7	breast:
49	chr5:115175649..115178515-chr5:115418843..115420963,3	K562	blood:
50	chr5:115431884..115434416-chr5:115451435..115454225,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6A-7	chr5:115553723-115553992	NONHSAT103356
2	lnc-ATG12-4	chr5:115413807-115414267	ENSG00000272265.1
3	lnc-LVRN.1-3	chr5:115549572-115550152	NONHSAT103355
4	lnc-ATG12-5	chr5:115419214-115420722	NONHSAT103353
5	lnc-ATG12-5	chr5:115419504-115421113	ENSG00000271918.1

No data

Variant related genes	Relation type
ENSG00000271918	TF binding region
HMGN2P27	TF binding region
COMMD10	TF binding region
ENSG00000272265	TF binding region
RNU6-644P	TF binding region
ENSG00000271918	CpG island
HMGN2P27	CpG island
COMMD10	CpG island
ENSG00000272265	CpG island
RNU6-644P	CpG island
ENSG00000271918	chromatin interactions
ENSG00000212457	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000131652	chromatin interactions
ENSG00000232916	chromatin interactions
ENSG00000243414	chromatin interactions
ENSG00000131508	chromatin interactions
ENSG00000271931	chromatin interactions
ENSG00000272265	chromatin interactions
ENSG00000134970	chromatin interactions
ENSG00000103145	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000251201	chromatin interactions
ENSG00000145781	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000232648	chromatin interactions

Extended variants
information (count: 8589 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:8589 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563732689	chr5:115397854-115397855	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532497191	chr5:115397865-115397866	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116365442	chr5:115397868-115397869	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577385313	chr5:115397869-115397870	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550141517	chr5:115397921-115397922	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs62386610	chr5:115397947-115397948	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570150616	chr5:115397968-115397969	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539340142	chr5:115397970-115397971	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546824239	chr5:115397972-115397973	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151106963	chr5:115397979-115397980	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375739577	chr5:115398010-115398011	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10061503	chr5:115398030-115398031	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563119815	chr5:115398034-115398035	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536869501	chr5:115398037-115398038	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575786965	chr5:115398038-115398039	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116137632	chr5:115398094-115398095	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367825328	chr5:115398096-115398097	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116140715	chr5:115398154-115398155	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117335236	chr5:115398250-115398251	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149919867	chr5:115398413-115398414	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566576157	chr5:115398416-115398417	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374336952	chr5:115398418-115398419	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192916720	chr5:115398437-115398438	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559897424	chr5:115398452-115398453	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185182739	chr5:115398455-115398456	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554405558	chr5:115398462-115398463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574268755	chr5:115398492-115398493	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141116171	chr5:115398506-115398507	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs548571525	chr5:115398529-115398530	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562970887	chr5:115398567-115398568	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1567340	chr5:115398572-115398573	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144801391	chr5:115398619-115398620	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537788190	chr5:115398620-115398621	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556991214	chr5:115398632-115398633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573808090	chr5:115398657-115398658	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532724506	chr5:115398684-115398685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542602913	chr5:115398692-115398693	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201204039	chr5:115398747-115398748	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546291296	chr5:115398753-115398754	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566727783	chr5:115398762-115398763	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529201429	chr5:115398765-115398766	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556024167	chr5:115398782-115398783	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549145489	chr5:115398838-115398839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193289370	chr5:115398875-115398876	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147941043	chr5:115398889-115398890	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558237869	chr5:115398907-115398908	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141762095	chr5:115398920-115398921	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534162246	chr5:115398932-115398933	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553900858	chr5:115398957-115398958	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184835908	chr5:115398966-115398967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115397000-115398400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:115397600-115398000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:115399400-115400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:115400200-115403600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:115403600-115403800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:115403600-115403800	Enhancers	Liver	Liver
7	chr5:115403600-115403800	Enhancers	Fetal Heart	heart
8	chr5:115403600-115403800	Enhancers	Fetal Lung	lung
9	chr5:115403800-115409200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:115405400-115419600	Weak transcription	Fetal Brain Male	brain
11	chr5:115409200-115410000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115410000-115410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:115410400-115410600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:115410600-115411400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:115410600-115419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:115410800-115411000	Enhancers	Fetal Intestine Large	intestine
17	chr5:115410800-115411000	Enhancers	Fetal Intestine Small	intestine
18	chr5:115410800-115411000	Enhancers	Pancreas	Pancrea
19	chr5:115410800-115411600	Enhancers	K562	blood
20	chr5:115410800-115413200	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:115411000-115411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:115411000-115413200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:115411000-115419600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:115411000-115419600	Weak transcription	Pancreas	Pancrea
25	chr5:115411200-115411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:115411200-115412600	Enhancers	GM12878-XiMat	blood
27	chr5:115411400-115411600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:115411400-115411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:115411400-115411600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:115411400-115413400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:115411400-115419600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:115411600-115411800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:115411600-115413000	Enhancers	Primary B cells from cord blood	blood
34	chr5:115411600-115413000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:115411600-115413200	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:115411600-115413400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:115411600-115419400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:115411600-115419400	Weak transcription	K562	blood
39	chr5:115411600-115419600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:115412000-115412400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:115412200-115413000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:115412400-115412800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:115412400-115412800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:115412600-115413000	Flanking Active TSS	GM12878-XiMat	blood
45	chr5:115412600-115414000	Weak transcription	Fetal Stomach	stomach
46	chr5:115412600-115415600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:115412600-115419600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:115412800-115413000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:115412800-115413200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:115412800-115419800	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links