Variant report

Variant	rs59950652
Chromosome Location	chr6:74238801-74238802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr6:74238657-74238915	K562	blood:	n/a	n/a
2	RFX5	chr6:74238740-74239121	K562	blood:	n/a	n/a
3	MAX	chr6:74238507-74238962	K562	blood:	n/a	n/a
4	ZMIZ1	chr6:74238604-74239041	K562	blood:	n/a	n/a
5	NR2F2	chr6:74238394-74239159	K562	blood:	n/a	n/a
6	POLR2A	chr6:74238660-74238973	K562	blood:	n/a	n/a
7	CCNT2	chr6:74238492-74239026	K562	blood:	n/a	n/a
8	STAT5A	chr6:74238493-74239102	K562	blood:	n/a	n/a
9	TBL1XR1	chr6:74238620-74239108	K562	blood:	n/a	n/a
10	UBTF	chr6:74238591-74238906	K562	blood:	n/a	n/a
11	PML	chr6:74238512-74239091	K562	blood:	n/a	n/a
12	TBL1XR1	chr6:74238450-74239110	K562	blood:	n/a	n/a
13	REST	chr6:74238630-74238990	K562	blood:	n/a	n/a
14	MXI1	chr6:74238674-74239033	K562	blood:	n/a	n/a
15	CEBPD	chr6:74238496-74239164	K562	blood:	n/a	n/a
16	TEAD4	chr6:74238425-74239222	K562	blood:	n/a	n/a
17	CHD2	chr6:74238621-74238994	K562	blood:	n/a	n/a
18	TRIM28	chr6:74238501-74239153	K562	blood:	n/a	n/a
19	CUX1	chr6:74238681-74239094	K562	blood:	n/a	n/a
20	CEBPD	chr6:74238661-74239084	K562	blood:	n/a	n/a
21	NR2F2	chr6:74238487-74239023	K562	blood:	n/a	n/a
22	GATA2	chr6:74238452-74239158	K562	blood:	n/a	n/a
23	UBTF	chr6:74238609-74238864	K562	blood:	n/a	n/a
24	CEBPB	chr6:74238638-74239067	K562	blood:	n/a	n/a
25	JUND	chr6:74238360-74239007	K562	blood:	n/a	n/a
26	GATA1	chr6:74238436-74239188	PBDE	blood:	n/a	n/a
27	HMGN3	chr6:74238697-74239089	K562	blood:	n/a	n/a
28	MAX	chr6:74238636-74238898	K562	blood:	n/a	n/a
29	ZNF274	chr6:74238652-74239206	K562	blood:	n/a	n/a
30	POLR2A	chr6:74238610-74239065	K562	blood:	n/a	n/a
31	EP300	chr6:74238737-74239028	K562	blood:	n/a	n/a
32	TRIM28	chr6:74238613-74238964	K562	blood:	n/a	n/a
33	ELK1	chr6:74238793-74238877	K562	blood:	n/a	n/a
34	MAFK	chr6:74238504-74238939	K562	blood:	n/a	n/a
35	PML	chr6:74238522-74239135	K562	blood:	n/a	n/a
36	EP300	chr6:74238590-74239086	K562	blood:	n/a	n/a
37	ZNF384	chr6:74238707-74238809	K562	blood:	n/a	n/a
38	TEAD4	chr6:74238490-74239161	K562	blood:	n/a	n/a
39	TAL1	chr6:74238450-74239431	K562	blood:	n/a	n/a
40	POLR2A	chr6:74238552-74239063	K562	blood:	n/a	n/a
41	CEBPB	chr6:74238706-74239020	K562	blood:	n/a	n/a
42	MYC	chr6:74238625-74239008	K562	blood:	n/a	n/a
43	RCOR1	chr6:74238396-74239082	K562	blood:	n/a	n/a
44	GABPA	chr6:74238662-74239115	K562	blood:	n/a	n/a
45	BHLHE40	chr6:74238639-74239034	K562	blood:	n/a	n/a
46	MAZ	chr6:74238576-74239001	K562	blood:	n/a	n/a
47	RCOR1	chr6:74238564-74239034	K562	blood:	n/a	n/a
48	MYC	chr6:74238566-74239153	K562	blood:	n/a	n/a
49	GATA2	chr6:74238545-74239035	K562	blood:	n/a	n/a
50	MAX	chr6:74238573-74238956	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74237984..74240224-chr6:74244775..74246543,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223967	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12111143	0.90[AFR][1000 genomes]
rs3173188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41501347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57226222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58856847	0.96[AFR][1000 genomes]
rs59408050	0.81[AFR][1000 genomes]
rs60463425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6923919	0.90[AFR][1000 genomes]
rs73450653	1.00[AMR][1000 genomes]
rs73450685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450688	0.81[AFR][1000 genomes]
rs73450697	0.81[AFR][1000 genomes]
rs73452515	0.81[AFR][1000 genomes]
rs73452557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452572	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74238000-74239200	Enhancers	K562	blood

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