Variant report

Variant	nsv603110
Chromosome Location	chr6:53885918-54103794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:664)
CpG islands
(count:427)
Chromatin interactive
region (count:15)
LncRNA
region (count:51)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:53962447-53962872	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:54000571-54001192	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:54069594-54070159	HepG2	liver:	n/a	n/a
4	BACH1	chr6:53936826-53937112	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:53968321-53968664	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:54058558-54059138	H1-hESC	embryonic stem cell:	n/a	chr6:54059004-54059018
7	BACH1	chr6:53968331-53968637	K562	blood:	n/a	n/a
8	BHLHE40	chr6:54069664-54070249	HepG2	liver:	n/a	n/a
9	BHLHE40	chr6:53962611-53962857	HepG2	liver:	n/a	n/a
10	BHLHE40	chr6:53972403-53972554	HepG2	liver:	n/a	chr6:53972454-53972463 chr6:53972454-53972463 chr6:53972455-53972464 chr6:53972448-53972469
11	BRCA1	chr6:53918522-53919323	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr6:53918781-53919330	HCT-116	colon:	n/a	n/a
13	CBX3	chr6:54088139-54088509	HCT-116	colon:	n/a	n/a
14	CBX3	chr6:54058831-54059364	HCT-116	colon:	n/a	n/a
15	CEBPB	chr6:54037561-54037646	IMR90	lung:	n/a	n/a
16	CEBPB	chr6:54000759-54001219	ECC-1	luminal epithelium:	n/a	chr6:54001140-54001152
17	CEBPB	chr6:53999774-54000050	HepG2	liver:	n/a	chr6:53999861-53999874 chr6:53999861-53999874 chr6:53999863-53999874 chr6:53999863-53999874 chr6:53999861-53999872
18	CEBPB	chr6:53999730-54000040	IMR90	lung:	n/a	chr6:53999861-53999874 chr6:53999861-53999874 chr6:53999863-53999874 chr6:53999863-53999874 chr6:53999861-53999872
19	CEBPB	chr6:53962398-53962934	HepG2	liver:	n/a	chr6:53962727-53962738 chr6:53962716-53962727
20	CEBPB	chr6:53902287-53902523	HepG2	liver:	n/a	chr6:53902381-53902392
21	CEBPB	chr6:53891898-53892191	HepG2	liver:	n/a	chr6:53892035-53892046 chr6:53892034-53892047 chr6:53891968-53891981
22	CEBPB	chr6:54021570-54021811	H1-hESC	embryonic stem cell:	n/a	chr6:54021669-54021680
23	CEBPB	chr6:53907486-53907689	HepG2	liver:	n/a	chr6:53907624-53907637
24	CEBPB	chr6:53941007-53941256	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:54021570-54021851	A549	lung:	n/a	chr6:54021669-54021680
26	CEBPB	chr6:54062972-54063345	Hela-S3	cervix:	n/a	chr6:54063148-54063159 chr6:54063167-54063178
27	CEBPB	chr6:54000889-54001075	HepG2	liver:	n/a	n/a
28	CEBPB	chr6:54008035-54008201	HepG2	liver:	n/a	chr6:54008071-54008082
29	CEBPB	chr6:53922006-53922164	HepG2	liver:	n/a	chr6:53922081-53922094 chr6:53922081-53922092 chr6:53922082-53922093 chr6:53922081-53922094 chr6:53922081-53922092
30	CEBPB	chr6:54000822-54001146	A549	lung:	n/a	n/a
31	CEBPB	chr6:53962535-53962901	HepG2	liver:	n/a	chr6:53962727-53962738 chr6:53962716-53962727
32	CEBPB	chr6:53936663-53937131	HepG2	liver:	n/a	chr6:53937019-53937030
33	CEBPB	chr6:54062971-54063326	IMR90	lung:	n/a	chr6:54063148-54063159 chr6:54063167-54063178
34	CEBPB	chr6:54021521-54021860	IMR90	lung:	n/a	chr6:54021669-54021680
35	CEBPB	chr6:54013296-54013543	HepG2	liver:	n/a	chr6:54013402-54013413
36	CEBPB	chr6:54000686-54001217	HCT-116	colon:	n/a	chr6:54001140-54001152
37	CEBPB	chr6:53902221-53902598	HepG2	liver:	n/a	chr6:53902381-53902392
38	CEBPB	chr6:53918783-53919309	IMR90	lung:	n/a	n/a
39	CEBPB	chr6:53905718-53905811	A549	lung:	n/a	n/a
40	CEBPB	chr6:53921912-53922227	HepG2	liver:	n/a	chr6:53922081-53922094 chr6:53922081-53922092 chr6:53922082-53922093 chr6:53922081-53922094 chr6:53922081-53922092
41	CEBPB	chr6:54035385-54035738	HepG2	liver:	n/a	chr6:54035563-54035574
42	CEBPB	chr6:53902224-53902615	HepG2	liver:	n/a	chr6:53902381-53902392
43	CEBPB	chr6:54000830-54001154	MCF-7	breast:	n/a	chr6:54001140-54001152
44	CEBPB	chr6:54052529-54052741	HepG2	liver:	n/a	chr6:54052561-54052572 chr6:54052616-54052627
45	CEBPB	chr6:53936747-53937174	IMR90	lung:	n/a	chr6:53937019-53937030
46	CEBPB	chr6:53918742-53919509	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr6:53891969-53892156	Hela-S3	cervix:	n/a	chr6:53892035-53892046 chr6:53892034-53892047
48	CEBPB	chr6:53891907-53892149	A549	lung:	n/a	chr6:53892035-53892046 chr6:53892034-53892047 chr6:53891968-53891981
49	CEBPB	chr6:53902252-53902560	HepG2	liver:	n/a	chr6:53902381-53902392
50	CEBPB	chr6:53962593-53962858	HepG2	liver:	n/a	chr6:53962727-53962738 chr6:53962716-53962727

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:53919041-53919091	ovcar-3	ovarian:	n/a
2	chr6:53939321-53939371	MCF10A-Er-Src	breast:	n/a
3	chr6:54058452-54058502	HUVEC	blood vessel:	n/a
4	chr6:53950838-53950888	HRPEpiC	eye:	n/a
5	chr6:53950838-53950888	AG09309	skin:	n/a
6	chr6:53919041-53919091	HIPEpiC	eye:	n/a
7	chr6:54058452-54058502	SK-N-MC	brain:	n/a
8	chr6:54058452-54058502	SKMC	muscle:	n/a
9	chr6:54001868-54001918	GM12892	blood:	n/a
10	chr6:54001868-54001918	IMR90	lung:	fetal
11	chr6:54058452-54058502	RPTEC	kidney:	n/a
12	chr6:54058452-54058502	ovcar-3	ovarian:	n/a
13	chr6:54058452-54058502	GM12892	blood:	n/a
14	chr6:53919041-53919091	NHBE	bronchial:	n/a
15	chr6:53950838-53950888	HCPEpiC	choroid plexus:	n/a
16	chr6:53919041-53919091	AG04449	skin:	fetal
17	chr6:54001665-54001715	BE2_C	brain:	n/a
18	chr6:54001868-54001918	ProgFib	skin:	n/a
19	chr6:53950838-53950888	SK-N-SH	brain:	n/a
20	chr6:54001665-54001715	HRE	kidney:	n/a
21	chr6:53939321-53939371	Hepatocyte	liver:	n/a
22	chr6:53939321-53939371	ovcar-3	ovarian:	n/a
23	chr6:54001868-54001918	HCF	heart:	n/a
24	chr6:53950838-53950888	HRCEpiC	kidney:	n/a
25	chr6:54001868-54001918	HEK293	kidney:	embryo
26	chr6:54001665-54001715	Caco-2	colon:	n/a
27	chr6:54001868-54001918	SK-N-SH_RA	brain:	n/a
28	chr6:54001868-54001918	Caco-2	colon:	n/a
29	chr6:54001868-54001918	NT2-D1	testis:	n/a
30	chr6:53950838-53950888	HL-60	blood:	n/a
31	chr6:54001895-54001945	AG04450	lung:	fetal
32	chr6:54058452-54058502	HEEpiC	esophagus:	n/a
33	chr6:53939321-53939371	HL-60	blood:	n/a
34	chr6:53939321-53939371	K562	blood:	n/a
35	chr6:54001665-54001715	K562	blood:	n/a
36	chr6:54001895-54001945	H1-hESC	embryonic stem cell:	embryo
37	chr6:54058452-54058502	H1-hESC	embryonic stem cell:	embryo
38	chr6:53950838-53950888	SK-N-MC	brain:	n/a
39	chr6:53919041-53919091	HUVEC	blood vessel:	n/a
40	chr6:54001895-54001945	BE2_C	brain:	n/a
41	chr6:54058452-54058502	NB4	blood:	n/a
42	chr6:54001895-54001945	GM12891	blood:	n/a
43	chr6:53950838-53950888	AG10803	skin:	n/a
44	chr6:53919041-53919091	GM12892	blood:	n/a
45	chr6:53950838-53950888	NHBE	bronchial:	n/a
46	chr6:53939321-53939371	PFSK-1	brain:	n/a
47	chr6:54001868-54001918	GM19239	blood:	n/a
48	chr6:53919041-53919091	MCF10A-Er-Src	breast:	n/a
49	chr6:53919041-53919091	Caco-2	colon:	n/a
50	chr6:53950838-53950888	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:53900838..53902850-chr6:53908352..53911031,2	MCF-7	breast:
2	chr6:53900354..53903292-chr6:53906987..53909749,2	K562	blood:
3	chr6:53992281..53994885-chr6:54000066..54003038,2	MCF-7	breast:
4	chr6:53909795..53912319-chr6:53912948..53915242,2	MCF-7	breast:
5	chr6:53990110..53992835-chr6:54232926..54235323,2	K562	blood:
6	chr6:53857425..53857943-chr6:53933277..53933955,2	MCF-7	breast:
7	chr6:53881259..53883672-chr6:53884644..53887539,2	K562	blood:
8	chr6:53992281..53994885-chr6:54000066..54003038,2	MCF-7	breast:
9	chr6:53900354..53903292-chr6:53906987..53909749,2	K562	blood:
10	chr6:53909795..53912319-chr6:53912948..53915242,2	MCF-7	breast:
11	chr1:217200941..217201873-chr6:54053550..54054293,2	MCF-7	breast:
12	chr6:53906223..53908001-chr6:53910577..53912492,2	K562	blood:
13	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:
14	chr6:53900838..53902850-chr6:53908352..53911031,2	MCF-7	breast:
15	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:

(count:51 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC1-8	chr6:53955515-53955607	ucscGeneNc_uc003pce_2
2	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
3	lnc-LRRC1-8	chr6:53967721-53970422	ucscGeneNc_uc003pce_2
4	lnc-KLHL31-3	chr6:53911717-53911957	ENSG00000235050.1
5	lnc-KLHL31-10	chr6:53927195-53927695	NONHSAT113220
6	lnc-KLHL31-3	chr6:53896201-53896499	ENSG00000235050.2
7	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
8	lnc-KLHL31-3	chr6:53905839-53905871	ENSG00000235050.2
9	lnc-KLHL31-3	chr6:53912288-53912392	ENSG00000235050.2
10	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
11	lnc-LRRC1-9	chr6:53975371-53975476	NONHSAT113221
12	lnc-KLHL31-3	chr6:53922745-53922798	ENSG00000235050.2
13	lnc-KLHL31-3	chr6:53894172-53894249	ENSG00000235050.2
14	lnc-KLHL31-3	chr6:53912090-53912232	ENSG00000235050.2
15	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.1
16	lnc-KLHL31-3	chr6:53911899-53911957	ENSG00000235050.2
17	lnc-KLHL31-3	chr6:53912288-53912392	ENSG00000235050.2
18	lnc-KLHL31-3	chr6:53910205-53910623	ENSG00000235050.2
19	lnc-KLHL31-3	chr6:53923720-53923768	ENSG00000235050.2
20	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
21	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
22	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
23	lnc-LRRC1-8	chr6:53902803-53903034	ucscGeneNc_uc003pce_2
24	lnc-KLHL31-3	chr6:53893975-53894249	ENSG00000235050.2
25	lnc-KLHL31-3	chr6:53912311-53912392	ENSG00000235050.2
26	lnc-KLHL31-10	chr6:53927754-53927853	NONHSAT113220
27	lnc-LRRC1-8	chr6:53967721-53970052	NONHSAT113215
28	lnc-KLHL31-3	chr6:53908150-53908225	ENSG00000235050.2
29	lnc-LRRC1-8	chr6:53955515-53955607	NONHSAT113215
30	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
31	lnc-KLHL31-3	chr6:53944324-53944524	ENSG00000235050.2
32	lnc-LRRC1-9	chr6:53973667-53973851	NONHSAT113221
33	lnc-LRRC1-9	chr6:53979728-53979909	NONHSAT113221
34	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
35	lnc-LRRC1-8	chr6:53967547-53967621	NONHSAT113215
36	lnc-KLHL31-3	chr6:53912090-53912212	ENSG00000235050.2
37	lnc-KLHL31-3	chr6:53895430-53895457	ENSG00000235050.2
38	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
39	lnc-LRRC1-8	chr6:53902938-53903034	NONHSAT113215
40	lnc-KLHL31-3	chr6:53910336-53910623	ENSG00000235050.2
41	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
42	lnc-LRRC1-8	chr6:53967547-53967621	ucscGeneNc_uc003pce_2
43	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
44	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
45	lnc-KLHL31-3	chr6:53908150-53908225	ENSG00000235050.2
46	lnc-KLHL31-3	chr6:53911435-53911957	ENSG00000235050.2
47	lnc-KLHL31-3	chr6:53912090-53912392	ENSG00000235050.2
48	lnc-KLHL31-3	chr6:53910727-53911957	ENSG00000235050.2
49	lnc-KLHL31-3	chr6:53893976-53894249	ENSG00000235050.2
50	lnc-KLHL31-3	chr6:53895417-53895457	ENSG00000235050.2

No data

Variant related genes	Relation type
MLIP-AS1	TF binding region
ERHP2	TF binding region
MLIP	TF binding region
MLIP-AS1	CpG island
ERHP2	CpG island
MLIP	CpG island
ENSG00000218143	chromatin interactions
ENSG00000228231	chromatin interactions
ENSG00000235050	chromatin interactions

Extended variants
information (count: 7963 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:7963 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1570912	chr6:53885918-53885919	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187279767	chr6:53885919-53885920	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543907599	chr6:53885924-53885925	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116512063	chr6:53885958-53885959	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116814661	chr6:53886009-53886010	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143937993	chr6:53886012-53886013	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1570911	chr6:53886014-53886015	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367871339	chr6:53886068-53886069	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192067877	chr6:53886120-53886121	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372973834	chr6:53886125-53886126	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559943442	chr6:53886138-53886139	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372058289	chr6:53886142-53886143	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75941921	chr6:53886175-53886176	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147273057	chr6:53886200-53886201	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550652262	chr6:53886210-53886211	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4715435	chr6:53886226-53886227	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182795550	chr6:53886250-53886251	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553034114	chr6:53886297-53886298	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370291828	chr6:53886360-53886361	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187776144	chr6:53886392-53886393	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558426570	chr6:53886401-53886402	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568378886	chr6:53886402-53886403	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537380655	chr6:53886433-53886434	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28638797	chr6:53886460-53886461	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76315554	chr6:53886472-53886473	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139671103	chr6:53886483-53886484	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573832636	chr6:53886549-53886550	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191244187	chr6:53886570-53886571	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531290883	chr6:53886584-53886585	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559342042	chr6:53886626-53886627	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182711905	chr6:53886672-53886673	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545691503	chr6:53886717-53886718	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9395899	chr6:53886743-53886744	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531130884	chr6:53886816-53886817	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187403574	chr6:53886854-53886855	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560948690	chr6:53886871-53886872	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149775945	chr6:53886879-53886880	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145850172	chr6:53886900-53886901	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566484285	chr6:53886915-53886916	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148592350	chr6:53886920-53886921	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12199925	chr6:53886941-53886942	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs578250780	chr6:53887001-53887002	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368525564	chr6:53887007-53887008	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573767000	chr6:53887050-53887051	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536062089	chr6:53887056-53887057	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534573090	chr6:53887090-53887091	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536360844	chr6:53887098-53887099	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552906391	chr6:53887105-53887106	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1022931	chr6:53887113-53887114	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545119003	chr6:53887117-53887118	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53882200-53887400	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr6:53883200-53887400	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr6:53883400-53887200	Active TSS	Psoas Muscle	Psoas
4	chr6:53883400-53887800	Active TSS	Right Atrium	heart
5	chr6:53883600-53886000	Active TSS	Fetal Muscle Leg	muscle
6	chr6:53883600-53886600	Active TSS	Fetal Heart	heart
7	chr6:53883600-53888000	Active TSS	Right Ventricle	heart
8	chr6:53884800-53886200	Enhancers	Fetal Intestine Small	intestine
9	chr6:53885600-53886800	Weak transcription	HUVEC	blood vessel
10	chr6:53885800-53886000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:53885800-53886200	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:53885800-53886800	Weak transcription	Liver	Liver
13	chr6:53885800-53890400	Weak transcription	Left Ventricle	heart
14	chr6:53886000-53886800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:53886200-53886600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:53886200-53886800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:53886600-53887000	Enhancers	Fetal Intestine Small	intestine
18	chr6:53886600-53887400	Flanking Active TSS	Fetal Heart	heart
19	chr6:53886800-53887000	Enhancers	Liver	Liver
20	chr6:53886800-53887200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:53886800-53887400	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:53887000-53887200	Enhancers	HUVEC	blood vessel
23	chr6:53887000-53890400	Weak transcription	Liver	Liver
24	chr6:53887200-53889200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:53887200-53892200	Weak transcription	Psoas Muscle	Psoas
26	chr6:53887400-53890400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:53887400-53891000	Weak transcription	Fetal Heart	heart
28	chr6:53887400-53891400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:53887400-53893000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:53887800-53892200	Weak transcription	Right Atrium	heart
31	chr6:53888000-53890400	Weak transcription	Right Ventricle	heart
32	chr6:53889200-53889600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:53889600-53891400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:53890400-53890800	Enhancers	Left Ventricle	heart
35	chr6:53890400-53890800	Enhancers	Right Ventricle	heart
36	chr6:53890400-53893400	Enhancers	Liver	Liver
37	chr6:53890400-53894400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:53890800-53892400	Weak transcription	Right Ventricle	heart
39	chr6:53890800-53893400	Weak transcription	Left Ventricle	heart
40	chr6:53891000-53892400	Enhancers	Fetal Heart	heart
41	chr6:53891400-53891800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:53891400-53892000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:53891400-53892600	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:53891800-53895600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:53892000-53895600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:53892200-53892600	Enhancers	Right Atrium	heart
47	chr6:53892200-53894400	Enhancers	Psoas Muscle	Psoas
48	chr6:53892400-53892800	Flanking Active TSS	Fetal Heart	heart
49	chr6:53892400-53892800	Active TSS	Right Ventricle	heart
50	chr6:53892600-53893400	Enhancers	HSMMtube	muscle

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