Variant report

Variant	esv19714
Chromosome Location	chr5:60625377-60629756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1145)
CpG islands
(count:1039)
Chromatin interactive
region (count:44)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60625693-60625919	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:60627998-60628086	HepG2	liver:	n/a	n/a
3	ATF1	chr5:60627780-60628205	K562	blood:	n/a	chr5:60627940-60627954
4	ATF2	chr5:60627450-60628162	GM12878	blood:	n/a	chr5:60627940-60627954
5	ATF2	chr5:60625640-60626077	GM12878	blood:	n/a	n/a
6	ATF3	chr5:60627928-60628134	K562	blood:	n/a	n/a
7	BACH1	chr5:60629636-60629872	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:60628815-60629381	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:60626449-60628467	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr5:60625609-60625976	GM12878	blood:	n/a	chr5:60625809-60625820
11	BATF	chr5:60625621-60625966	GM12878	blood:	n/a	chr5:60625809-60625820
12	BCL11A	chr5:60625655-60625963	GM12878	blood:	n/a	n/a
13	BCL3	chr5:60627809-60628195	A549	lung:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
14	BCL3	chr5:60627783-60628206	A549	lung:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
15	BCL3	chr5:60627431-60627737	GM12878	blood:	n/a	chr5:60627692-60627705
16	BCL3	chr5:60625662-60625919	GM12878	blood:	n/a	n/a
17	BCL3	chr5:60625611-60626095	GM12878	blood:	n/a	n/a
18	BCLAF1	chr5:60626724-60627141	GM12878	blood:	n/a	chr5:60627009-60627022 chr5:60626759-60626772 chr5:60627110-60627123
19	BCLAF1	chr5:60627884-60628141	GM12878	blood:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
20	BHLHE40	chr5:60626718-60628187	GM12878	blood:	n/a	chr5:60626775-60626791 chr5:60626760-60626776 chr5:60627129-60627145
21	BHLHE40	chr5:60627940-60628187	K562	blood:	n/a	n/a
22	BHLHE40	chr5:60627111-60627187	K562	blood:	n/a	chr5:60627129-60627145
23	BHLHE40	chr5:60627507-60627704	K562	blood:	n/a	n/a
24	BHLHE40	chr5:60626890-60627108	A549	lung:	n/a	n/a
25	BRCA1	chr5:60629711-60629714	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr5:60626368-60626881	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:60627500-60628169	Hela-S3	cervix:	n/a	n/a
28	CCNT2	chr5:60627662-60628935	K562	blood:	n/a	chr5:60627896-60627905
29	CCNT2	chr5:60629197-60629799	K562	blood:	n/a	chr5:60629297-60629306
30	CCNT2	chr5:60626779-60627173	K562	blood:	n/a	n/a
31	CEBPB	chr5:60625641-60625980	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:60626320-60627640	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr5:60627863-60628139	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr5:60626778-60627036	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:60627487-60627895	HepG2	liver:	n/a	n/a
36	CHD1	chr5:60629441-60630039	H1-hESC	embryonic stem cell:	n/a	chr5:60629730-60629740 chr5:60629683-60629693
37	CHD1	chr5:60623202-60631624	IMR90	lung:	n/a	chr5:60629730-60629740 chr5:60629024-60629034 chr5:60629683-60629693 chr5:60629116-60629123 chr5:60629352-60629362 chr5:60627826-60627836
38	CHD1	chr5:60627303-60627380	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr5:60628383-60628391	GM12878	blood:	n/a	n/a
40	CHD1	chr5:60626353-60626664	GM12878	blood:	n/a	n/a
41	CHD1	chr5:60628920-60628974	GM12878	blood:	n/a	n/a
42	CHD1	chr5:60626263-60626653	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr5:60626942-60628053	GM12878	blood:	n/a	chr5:60627826-60627836
44	CHD1	chr5:60629350-60629626	GM12878	blood:	n/a	chr5:60629352-60629362
45	CHD1	chr5:60628972-60629038	H1-hESC	embryonic stem cell:	n/a	chr5:60629024-60629034
46	CHD2	chr5:60626888-60628163	GM12878	blood:	n/a	chr5:60627826-60627836
47	CHD2	chr5:60626205-60628374	Hela-S3	cervix:	n/a	chr5:60627826-60627836
48	CHD2	chr5:60628927-60628953	GM12878	blood:	n/a	n/a
49	CHD2	chr5:60627988-60628147	HepG2	liver:	n/a	n/a
50	CHD2	chr5:60627898-60628132	K562	blood:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60628875-60628925	PFSK-1	brain:	n/a
2	chr5:60625717-60625767	GM12892	blood:	n/a
3	chr5:60628875-60628925	PFSK-1	brain:	n/a
4	chr5:60625717-60625767	GM12892	blood:	n/a
5	chr5:60626281-60626331	PANC-1	pancreas:	n/a
6	chr5:60628891-60628941	NB4	blood:	n/a
7	chr5:60626960-60627010	HCPEpiC	choroid plexus:	n/a
8	chr5:60628093-60628143	LNCaP	prostate:	n/a
9	chr5:60625717-60625767	IMR90	lung:	fetal
10	chr5:60628030-60628080	HCM	heart:	n/a
11	chr5:60627852-60627902	GM06990	blood:	n/a
12	chr5:60625717-60625767	AG04449	skin:	fetal
13	chr5:60627447-60627497	HCF	heart:	n/a
14	chr5:60628093-60628143	NH-A	brain:	n/a
15	chr5:60628018-60628068	LNCaP	prostate:	n/a
16	chr5:60628875-60628925	AG10803	skin:	n/a
17	chr5:60628891-60628941	GM12891	blood:	n/a
18	chr5:60628016-60628066	HIPEpiC	eye:	n/a
19	chr5:60628030-60628080	PFSK-1	brain:	n/a
20	chr5:60625717-60625767	HCF	heart:	n/a
21	chr5:60626281-60626331	AG09309	skin:	n/a
22	chr5:60628016-60628066	SK-N-SH_RA	brain:	n/a
23	chr5:60626910-60626960	AG04449	skin:	fetal
24	chr5:60627852-60627902	K562	blood:	n/a
25	chr5:60628875-60628925	GM12891	blood:	n/a
26	chr5:60628016-60628066	SAEC	small airway:	n/a
27	chr5:60627633-60627683	AG04449	skin:	fetal
28	chr5:60628030-60628080	SK-N-MC	brain:	n/a
29	chr5:60628008-60628058	PANC-1	pancreas:	n/a
30	chr5:60626960-60627010	HNPCEpiC	eye:	n/a
31	chr5:60627447-60627497	K562	blood:	n/a
32	chr5:60628891-60628941	A549	lung:	n/a
33	chr5:60628875-60628925	MCF10A-Er-Src	breast:	n/a
34	chr5:60626960-60627010	PANC-1	pancreas:	n/a
35	chr5:60628891-60628941	SAEC	small airway:	n/a
36	chr5:60626960-60627010	HCM	heart:	n/a
37	chr5:60626960-60627010	T-47D	breast:	n/a
38	chr5:60627633-60627683	Hela-S3	cervix:	n/a
39	chr5:60628891-60628941	HRE	kidney:	n/a
40	chr5:60628008-60628058	HCM	heart:	n/a
41	chr5:60628016-60628066	NH-A	brain:	n/a
42	chr5:60627633-60627683	HMEC	breast:	n/a
43	chr5:60626960-60627010	Hela-S3	cervix:	n/a
44	chr5:60627447-60627497	A549	lung:	n/a
45	chr5:60628016-60628066	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:60628891-60628941	HUVEC	blood vessel:	n/a
47	chr5:60628030-60628080	HEEpiC	esophagus:	n/a
48	chr5:60629121-60629171	Hepatocyte	liver:	n/a
49	chr5:60628008-60628058	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:60628030-60628080	HNPCEpiC	eye:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60627777..60628559-chr6:114292385..114293123,2	Hela-S3	cervix:
2	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
3	chr5:60628107..60631036-chr5:60638453..60640753,2	K562	blood:
4	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
5	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:
6	chr5:60469553..60471380-chr5:60625380..60627759,2	MCF-7	breast:
7	chr5:60458177..60458944-chr5:60627957..60628524,2	Hela-S3	cervix:
8	chr11:393896..394696-chr5:60627910..60628410,2	Hela-S3	cervix:
9	chr5:60353410..60356120-chr5:60624338..60627119,3	MCF-7	breast:
10	chr5:60463125..60463841-chr5:60626532..60627147,2	MCF-7	breast:
11	chr12:53845725..53846383-chr5:60625600..60626600,2	Hela-S3	cervix:
12	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
13	chr11:18655522..18656332-chr5:60627731..60628504,2	Hela-S3	cervix:
14	chr1:115052362..115054951-chr5:60627006..60628857,2	MCF-7	breast:
15	chr5:60458072..60458957-chr5:60626924..60627633,2	MCF-7	breast:
16	chr5:60628464..60630386-chr5:60657192..60659547,2	MCF-7	breast:
17	chr10:121410512..121411197-chr5:60627900..60628538,2	Hela-S3	cervix:
18	chr5:60605123..60607843-chr5:60623875..60626572,3	MCF-7	breast:
19	chr5:60626093..60627678-chr5:60926976..60929648,2	MCF-7	breast:
20	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
21	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:
22	chr20:47662713..47663495-chr5:60628124..60628666,2	Hela-S3	cervix:
23	chr5:60623389..60626002-chr5:60627972..60629688,3	K562	blood:
24	chr5:60616098..60618418-chr5:60628715..60630445,3	K562	blood:
25	chr5:60627981..60628508-chr5:128430013..128430866,2	HCT-116	colon:
26	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
27	chr5:60463053..60463874-chr5:60626475..60627223,2	MCF-7	breast:
28	chr5:60628455..60630619-chr5:61175090..61177005,2	MCF-7	breast:
29	chr5:60456578..60458142-chr5:60626719..60629470,2	K562	blood:
30	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:
31	chr5:60608445..60610202-chr5:60628831..60630398,2	MCF-7	breast:
32	chr5:60626139..60628076-chr5:60895124..60897725,2	MCF-7	breast:
33	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
34	chr5:60627900..60628455-chrX:23760726..23761540,2	Hela-S3	cervix:
35	chr11:62572558..62573374-chr5:60627890..60628531,2	HCT-116	colon:
36	chr21:38738225..38738815-chr5:60627910..60628424,2	Hela-S3	cervix:
37	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
38	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
39	chr5:60629276..60630021-chr5:60916827..60917341,2	MCF-7	breast:
40	chr5:60627247..60628096-chr6:31632990..31633709,2	Hela-S3	cervix:
41	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
42	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
43	chr5:60621987..60625726-chr5:60627235..60630400,4	MCF-7	breast:
44	chr12:8088332..8089205-chr5:60627015..60627897,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf43-2	chr5:60627967-60628034	NONHSAT101668
2	lnc-C5orf43-2	chr5:60627592-60627805	XLOC_004841

No data

Variant related genes	Relation type
ZSWIM6	TF binding region
ZSWIM6	CpG island
ENSG00000151929	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000123130	chromatin interactions
ENSG00000066583	chromatin interactions
ENSG00000184363	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000130449	chromatin interactions
ENSG00000251682	chromatin interactions
ENSG00000251279	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000273210	chromatin interactions
ENSG00000196591	chromatin interactions
ENSG00000228624	chromatin interactions
ENSG00000179119	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563577179	chr5:60625404-60625405	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs576878930	chr5:60625413-60625414	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545827755	chr5:60625443-60625444	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs559472952	chr5:60625452-60625453	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs200736166	chr5:60625479-60625480	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs138110323	chr5:60625537-60625538	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562187838	chr5:60625543-60625544	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs541995614	chr5:60625556-60625557	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs531147971	chr5:60625585-60625586	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs550816740	chr5:60625606-60625607	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs113142890	chr5:60625618-60625619	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs537902555	chr5:60625643-60625644	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556310204	chr5:60625767-60625768	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs182687961	chr5:60625826-60625827	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs35792898	chr5:60625860-60625861	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs4276369	chr5:60625875-60625876	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535615492	chr5:60625887-60625888	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs555839597	chr5:60625983-60625984	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs553522819	chr5:60626040-60626041	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs574500261	chr5:60626125-60626126	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs186868861	chr5:60626126-60626127	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572293967	chr5:60626129-60626130	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs557257102	chr5:60626139-60626140	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs577242834	chr5:60626276-60626277	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs371382678	chr5:60626315-60626316	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs191357455	chr5:60626334-60626335	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs559434318	chr5:60626437-60626438	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs572888196	chr5:60626449-60626450	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541522164	chr5:60626460-60626461	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs183497161	chr5:60626471-60626472	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs530986228	chr5:60626493-60626494	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs550779654	chr5:60626500-60626501	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs112045457	chr5:60626506-60626507	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs149107050	chr5:60626532-60626533	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs189104668	chr5:60626539-60626540	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs566712228	chr5:60626569-60626570	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs143144703	chr5:60626587-60626588	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs114893540	chr5:60626596-60626597	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs193279201	chr5:60626635-60626636	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs537225898	chr5:60626655-60626656	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs557218541	chr5:60626671-60626672	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs376250757	chr5:60626684-60626685	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs116001988	chr5:60626694-60626695	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs539782338	chr5:60626695-60626696	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs553245178	chr5:60626763-60626764	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572705697	chr5:60626802-60626803	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs541833367	chr5:60626808-60626809	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs12516466	chr5:60626825-60626826	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs555137469	chr5:60626871-60626872	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs370521708	chr5:60626874-60626875	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Non-small cell lung cancer	21829676	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
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60616800-60625800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:60617000-60626200	Weak transcription	Esophagus	oesophagus
3	chr5:60617400-60625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:60619200-60625600	Weak transcription	Aorta	Aorta
5	chr5:60619400-60626200	Weak transcription	Small Intestine	intestine
6	chr5:60622400-60625600	Enhancers	Osteobl	bone
7	chr5:60622600-60625400	Enhancers	NH-A	brain
8	chr5:60623200-60625600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:60623200-60625600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:60623200-60625800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:60623200-60626000	Enhancers	HMEC	breast
12	chr5:60623400-60626000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:60623600-60625800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:60623600-60626000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:60623600-60626000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:60623600-60626000	Enhancers	NHEK	skin
17	chr5:60623600-60626200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:60623800-60625400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:60623800-60625600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:60623800-60625600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:60623800-60625600	Enhancers	Fetal Intestine Large	intestine
22	chr5:60623800-60625600	Enhancers	Fetal Intestine Small	intestine
23	chr5:60623800-60625800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:60623800-60625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:60623800-60626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:60623800-60626400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:60624000-60625400	Enhancers	Duodenum Mucosa	Duodenum
28	chr5:60624000-60625400	Enhancers	Lung	lung
29	chr5:60624000-60625600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:60624000-60626000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:60624200-60625600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:60624200-60625800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:60624200-60625800	Enhancers	HSMMtube	muscle
34	chr5:60624200-60626000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:60624200-60626000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:60624400-60625400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:60624400-60625400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:60624400-60625400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:60624400-60625600	Enhancers	Adipose Nuclei	Adipose
40	chr5:60624400-60625600	Enhancers	Brain Anterior Caudate	brain
41	chr5:60624400-60625800	Enhancers	Fetal Brain Male	brain
42	chr5:60624400-60626000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:60624400-60626000	Enhancers	Fetal Heart	heart
44	chr5:60624400-60626000	Enhancers	Placenta	Placenta
45	chr5:60624400-60626200	Bivalent Enhancer	GM12878-XiMat	blood
46	chr5:60624400-60626600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:60624600-60625400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:60624600-60625400	Enhancers	Left Ventricle	heart
49	chr5:60624600-60625400	Enhancers	Spleen	Spleen
50	chr5:60624600-60625600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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