Variant report

Variant	rs57214825
Chromosome Location	chr20:29901125-29901126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr20:29900864-29901521	K562	blood:	n/a	n/a
2	RAD21	chr20:29901042-29901569	A549	lung:	n/a	chr20:29901335-29901354
3	SMC3	chr20:29901094-29901561	HepG2	liver:	n/a	n/a
4	CTCF	chr20:29900983-29901138	LNCaP	prostate:	n/a	n/a
5	CTCF	chr20:29901006-29901657	HCT-116	colon:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
6	CTCF	chr20:29901000-29901150	HepG2	liver:	n/a	n/a
7	RAD21	chr20:29900924-29901619	HepG2	liver:	n/a	chr20:29901335-29901354
8	CTCF	chr20:29901120-29901270	GM12878	blood:	n/a	n/a
9	CTCF	chr20:29900911-29901125	A549	lung:	n/a	n/a
10	CTCF	chr20:29901000-29901150	RPTEC	kidney:	n/a	n/a
11	RAD21	chr20:29901033-29901583	H1-hESC	embryonic stem cell:	n/a	chr20:29901335-29901354
12	CTCF	chr20:29900936-29901136	LNCaP	prostate:	n/a	n/a
13	RAD21	chr20:29901088-29901577	SK-N-SH_RA	brain:	n/a	chr20:29901335-29901354
14	CTCF	chr20:29900937-29901148	K562	blood:	n/a	n/a
15	RAD21	chr20:29900953-29901727	SK-N-SH	brain:	n/a	chr20:29901335-29901354
16	CEBPB	chr20:29901113-29901610	MCF-7	breast:	n/a	n/a
17	CTCF	chr20:29900903-29901137	MCF-7	breast:	n/a	n/a
18	CTCF	chr20:29901020-29901170	GM12874	blood:	n/a	n/a
19	CTCF	chr20:29901000-29901150	HCT-116	colon:	n/a	n/a
20	CTCF	chr20:29900971-29901155	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr20:29900981-29901691	MCF-7	breast:	n/a	chr20:29901335-29901354
22	CTCF	chr20:29900995-29901554	T-47D	breast:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
23	RAD21	chr20:29901029-29901644	MCF-7	breast:	n/a	chr20:29901335-29901354
24	CTCF	chr20:29901040-29901190	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr20:29901020-29901170	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr20:29900924-29901514	K562	blood:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
27	CTCF	chr20:29901000-29901150	NB4	blood:	n/a	n/a
28	CTCF	chr20:29901020-29901170	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr20:29900844-29901565	HepG2	liver:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
30	CTCF	chr20:29900935-29901559	K562	blood:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
31	CTCF	chr20:29901020-29901170	HCT-116	colon:	n/a	n/a
32	SMC3	chr20:29901023-29901557	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr20:29900951-29901772	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr20:29901020-29901170	HCFaa	heart:	n/a	n/a
35	CTCF	chr20:29901020-29901170	GM12872	blood:	n/a	n/a
36	CTCF	chr20:29901060-29901210	Caco-2	colon:	n/a	n/a
37	CTCF	chr20:29901036-29901565	MCF-7	breast:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
38	CTCF	chr20:29901020-29901170	GM12869	blood:	n/a	n/a
39	CTCF	chr20:29901000-29901150	HCPEpiC	choroid plexus:	n/a	n/a
40	FOS	chr20:29901093-29901393	MCF10A-Er-Src	breast:	n/a	chr20:29901163-29901173 chr20:29901163-29901173 chr20:29901231-29901243 chr20:29901164-29901172 chr20:29901300-29901309 chr20:29901163-29901173
41	CTCF	chr20:29900891-29901145	MCF-7	breast:	n/a	n/a
42	CTCF	chr20:29900780-29901549	K562	blood:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
43	CTCF	chr20:29900926-29901518	K562	blood:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
44	CTCF	chr20:29901000-29901150	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:29900951-29901551	IMR90	lung:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
46	CTCF	chr20:29900980-29901130	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr20:29900948-29901480	Medullo	brain:	n/a	chr20:29901352-29901373 chr20:29901332-29901353 chr20:29901350-29901368
48	CTCF	chr20:29900914-29901127	MCF-7	breast:	n/a	n/a
49	RAD21	chr20:29900936-29901619	HCT-116	colon:	n/a	chr20:29901335-29901354
50	CTCF	chr20:29901000-29901150	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:29900754..29901422-chr20:30042008..30042651,2	MCF-7	breast:
2	chr20:29900644..29901274-chr20:30041865..30042847,4	MCF-7	breast:
3	chr20:29900827..29901742-chr20:30090593..30091579,4	MCF-7	breast:

Variant related genes	Relation type
RPL31P3	TF binding region
DEFB116	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10084487	1.00[ASN][1000 genomes]
rs10084488	1.00[ASN][1000 genomes]
rs12329612	1.00[ASN][1000 genomes]
rs1923053	1.00[ASN][1000 genomes]
rs2143192	1.00[ASN][1000 genomes]
rs2424858	1.00[ASN][1000 genomes]
rs55963102	1.00[ASN][1000 genomes]
rs58270851	1.00[ASN][1000 genomes]
rs6057566	1.00[ASN][1000 genomes]
rs6058010	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6059071	1.00[ASN][1000 genomes]
rs60897953	1.00[ASN][1000 genomes]
rs6118879	1.00[ASN][1000 genomes]
rs6118896	1.00[ASN][1000 genomes]
rs6118901	1.00[ASN][1000 genomes]
rs6118990	1.00[ASN][1000 genomes]
rs6118991	1.00[ASN][1000 genomes]
rs6118993	1.00[ASN][1000 genomes]
rs6118994	1.00[ASN][1000 genomes]
rs6119014	1.00[ASN][1000 genomes]
rs6119018	1.00[ASN][1000 genomes]
rs6119036	1.00[ASN][1000 genomes]
rs6119037	1.00[ASN][1000 genomes]
rs6119038	1.00[ASN][1000 genomes]
rs6119130	1.00[ASN][1000 genomes]
rs6119317	1.00[ASN][1000 genomes]
rs6119383	1.00[ASN][1000 genomes]
rs6119387	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6119419	1.00[ASN][1000 genomes]
rs6119722	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6120046	1.00[EUR][1000 genomes]
rs6120065	1.00[ASN][1000 genomes]
rs6120073	1.00[EUR][1000 genomes]
rs6120088	1.00[EUR][1000 genomes]
rs6120125	1.00[ASN][1000 genomes]
rs6120294	1.00[ASN][1000 genomes]
rs6120312	1.00[ASN][1000 genomes]
rs6121224	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6121233	1.00[ASN][1000 genomes]
rs6121244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67552179	1.00[ASN][1000 genomes]
rs717064	1.00[ASN][1000 genomes]
rs7274062	1.00[ASN][1000 genomes]
rs73119512	1.00[ASN][1000 genomes]
rs73232316	1.00[ASN][1000 genomes]
rs73238483	1.00[ASN][1000 genomes]
rs732860	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs752841	1.00[ASN][1000 genomes]
rs8117589	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
2	nsv458960	chr20:29833609-29912852	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv585909	chr20:29833609-29912852	Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
5	nsv1065124	chr20:29833958-29912341	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv544227	chr20:29833958-29912341	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1061669	chr20:29833958-29926862	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1066609	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv544228	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1066779	chr20:29833958-29981427	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv544229	chr20:29833958-29981427	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1060567	chr20:29833958-29992219	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv544230	chr20:29833958-29992219	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1059642	chr20:29833958-30024839	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv544231	chr20:29833958-30024839	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1055527	chr20:29833958-30078925	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
19	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
20	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
21	nsv1063413	chr20:29835037-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv1065102	chr20:29835037-30011213	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1058516	chr20:29835037-30024168	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
25	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
26	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
27	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	414 gene(s)	inside rSNPs	diseases
28	nsv1060247	chr20:29860167-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv1065659	chr20:29877877-30020310	ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv544234	chr20:29877877-30020310	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	nsv1058639	chr20:29877877-30101083	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	nsv544235	chr20:29877877-30101083	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	nsv1058020	chr20:29877877-30197681	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
34	nsv544236	chr20:29877877-30197681	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
35	nsv1063560	chr20:29877877-30435888	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
36	nsv544237	chr20:29877877-30435888	Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
37	nsv1066621	chr20:29877992-30052439	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	nsv482272	chr20:29884928-30043331	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
39	nsv585910	chr20:29893501-30045393	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv458961	chr20:29893501-30275906	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
41	nsv585911	chr20:29893501-30275906	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
42	nsv1067177	chr20:29900572-30299363	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29901000-29901400	Active TSS	A549	lung
2	chr20:29901000-29901600	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links