Variant report

Variant	rs73100669
Chromosome Location	chr20:14603573-14603574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:14603471-14603704	HepG2	liver:	n/a	n/a
2	FOS	chr20:14603419-14603915	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr20:14603499-14603738	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr20:14603540-14603690	GM12874	blood:	n/a	n/a
5	CTCF	chr20:14603500-14603743	MCF-7	breast:	n/a	n/a
6	CTCF	chr20:14603500-14603650	AG10803	skin:	n/a	n/a
7	CTCF	chr20:14603520-14603670	GM12878	blood:	n/a	n/a
8	MYC	chr20:14603563-14603808	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL2	chr20:14603402-14603717	HepG2	liver:	n/a	n/a
10	CTCF	chr20:14603540-14603690	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr20:14603540-14603690	AG10803	skin:	n/a	n/a
12	CTCF	chr20:14603513-14603733	MCF-7	breast:	n/a	n/a
13	RAD21	chr20:14603432-14603820	Hela-S3	cervix:	n/a	n/a
14	FOSL2	chr20:14603433-14603851	MCF-7	breast:	n/a	n/a
15	CTCF	chr20:14603512-14603756	NHEK	skin:	n/a	n/a
16	STAT3	chr20:14603507-14603919	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr20:14603402-14603777	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr20:14603453-14603793	HepG2	liver:	n/a	n/a
19	CTCF	chr20:14603520-14603670	MCF-7	breast:	n/a	n/a
20	RAD21	chr20:14603515-14603737	HepG2	liver:	n/a	n/a
21	CTCF	chr20:14603520-14603670	A549	lung:	n/a	n/a
22	CTCF	chr20:14603500-14603650	HepG2	liver:	n/a	n/a
23	CTCF	chr20:14603540-14603690	Caco-2	colon:	n/a	n/a
24	CTCF	chr20:14603520-14603670	AG04450	lung:	n/a	n/a
25	CTCF	chr20:14603520-14603670	NHEK	skin:	n/a	n/a
26	REST	chr20:14603556-14603732	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr20:14603560-14603710	HRE	kidney:	n/a	n/a
28	RAD21	chr20:14603411-14603792	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr20:14603520-14603670	HRE	kidney:	n/a	n/a
30	CTCF	chr20:14603538-14603723	MCF-7	breast:	n/a	n/a
31	RAD21	chr20:14603337-14603914	MCF-7	breast:	n/a	n/a
32	RAD21	chr20:14603411-14603747	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr20:14603540-14603690	HRPEpiC	eye:	n/a	n/a
34	RAD21	chr20:14603394-14603897	MCF-7	breast:	n/a	n/a
35	REST	chr20:14603442-14603885	PFSK-1	brain:	n/a	n/a
36	FOS	chr20:14603437-14603871	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr20:14603540-14603690	AG04450	lung:	n/a	n/a
38	SMC3	chr20:14603508-14603783	HepG2	liver:	n/a	n/a
39	CTCF	chr20:14603560-14603710	NHEK	skin:	n/a	n/a
40	CTCF	chr20:14603520-14603670	HMEC	breast:	n/a	n/a
41	FOS	chr20:14603415-14603917	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr20:14603517-14603752	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr20:14603543-14603723	Fibrobl	skin:	n/a	n/a
44	CTCF	chr20:14603560-14603710	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:14603517-14603730	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr20:14603442-14603828	H1-hESC	embryonic stem cell:	n/a	chr20:14603595-14603606
47	CTCF	chr20:14603570-14603770	GM12878	blood:	n/a	n/a
48	CTCF	chr20:14603500-14603650	HEEpiC	esophagus:	n/a	n/a
49	RAD21	chr20:14603454-14603812	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr20:14603540-14603690	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1

No data

Variant related genes	Relation type
MACROD2-IT1	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55771103	0.94[ASN][1000 genomes]
rs56143931	0.96[ASN][1000 genomes]
rs59113870	1.00[ASN][1000 genomes]
rs60136431	0.97[ASN][1000 genomes]
rs6135200	0.89[ASN][1000 genomes]
rs61545767	0.96[ASN][1000 genomes]
rs73100677	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73100683	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73100689	0.96[ASN][1000 genomes]
rs73102507	0.90[ASN][1000 genomes]
rs73102514	0.88[ASN][1000 genomes]
rs73102520	0.86[ASN][1000 genomes]
rs8122992	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1060786	chr20:14486713-14648467	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544188	chr20:14486713-14648467	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1060985	chr20:14488785-14759939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1059579	chr20:14518849-14941319	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1063411	chr20:14524404-14658870	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1055188	chr20:14533457-14686297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv517905	chr20:14536808-14626845	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv912692	chr20:14538864-14650357	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1064738	chr20:14542669-14686297	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv458875	chr20:14548676-14610289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv585450	chr20:14548676-14610289	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1065590	chr20:14549721-14848061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv912693	chr20:14559429-14620954	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3512353	chr20:14560028-15087709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv3512354	chr20:14560087-15087661	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1055269	chr20:14560892-14646201	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1055559	chr20:14560892-14748546	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv912694	chr20:14565798-14620954	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv534569	chr20:14567155-14700099	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv993469	chr20:14567155-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1062462	chr20:14569400-14609756	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv458876	chr20:14569942-14662721	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv585451	chr20:14569942-14662721	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv585452	chr20:14569942-14986602	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv912695	chr20:14579703-14992542	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	nsv1063430	chr20:14593867-14698300	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14598400-14603600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:14602600-14603600	Weak transcription	Ovary	ovary
3	chr20:14603200-14604000	Enhancers	A549	lung
4	chr20:14603400-14603800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:14603400-14604000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:14603400-14604000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:14603400-14604000	Enhancers	Stomach Mucosa	stomach
8	chr20:14603400-14604000	Enhancers	Hela-S3	cervix
9	chr20:14603400-14604600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links