Variant report

Variant	rs60703712
Chromosome Location	chr21:46016358-46016359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr21:46016036-46016511	ECC-1	luminal epithelium:	n/a	n/a
2	NR3C1	chr21:46015992-46016492	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr21:46015984-46016723	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr21:46016105-46016610	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr21:46016113-46016556	ECC-1	luminal epithelium:	n/a	n/a
6	MAFK	chr21:46016310-46016361	K562	blood:	n/a	n/a
7	NFIC	chr21:46016004-46016672	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr21:46015844-46016378	K562	blood:	n/a	n/a
9	TCF12	chr21:46016109-46016690	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr21:46016300-46016450	HEK293	kidney:	n/a	n/a
11	CTCF	chr21:46016306-46016365	K562	blood:	n/a	n/a
12	MAX	chr21:46015946-46016612	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr21:46015931-46016517	ECC-1	luminal epithelium:	n/a	n/a
14	FOXA1	chr21:46016228-46016512	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr21:46016183-46016631	ECC-1	luminal epithelium:	n/a	n/a
16	FOXM1	chr21:46016078-46016800	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr21:46016240-46016390	K562	blood:	n/a	n/a
18	NR3C1	chr21:46015947-46016526	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr21:46016116-46016535	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr21:46016002-46016659	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr21:46016300-46016450	HRE	kidney:	n/a	n/a
22	EP300	chr21:46016049-46016748	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP10-6	TF binding region
KRTAP10-7	TF binding region
ENSG00000256212	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10211918	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410851	1.00[EUR][1000 genomes]
rs57062552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60417418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278074	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7278302	1.00[EUR][1000 genomes]
rs7283951	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73907039	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128920	1.00[EUR][1000 genomes]
rs9979583	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9983422	1.00[ASN][1000 genomes]
rs9983876	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983964	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 target site	121 gene(s)	inside rSNPs	diseases
2	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription 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	52 gene(s)	inside rSNPs	diseases
3	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
16	nsv913953	chr21:46012524-46031810	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
2	chr21:46014000-46017600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:46014000-46018000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr21:46014200-46017600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46014200-46017800	Weak transcription	NHEK	skin
6	chr21:46014200-46018200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:46014200-46021400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:46014400-46017600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:46014400-46017600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:46014600-46017600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr21:46014600-46021600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:46015400-46016400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:46016000-46016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:46016000-46016600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46016000-46016800	Enhancers	HMEC	breast
16	chr21:46016200-46016400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46016200-46016400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:46016200-46016600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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