Variant report

Variant	rs457697
Chromosome Location	chr21:45989191-45989192
allele	C/T
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	ATF1	chr21:45989043-45989370	K562	blood:	n/a	n/a
2	USF1	chr21:45989008-45989331	K562	blood:	n/a	n/a
3	MAX	chr21:45988722-45989381	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988801-45988810 chr21:45988799-45988808 chr21:45988915-45988924 chr21:45988802-45988809
4	GABPA	chr21:45989003-45989451	K562	blood:	n/a	n/a
5	E2F6	chr21:45988776-45989340	K562	blood:	n/a	n/a
6	MYC	chr21:45989095-45989304	K562	blood:	n/a	n/a
7	RCOR1	chr21:45989115-45989265	K562	blood:	n/a	n/a
8	CBX3	chr21:45989069-45989379	K562	blood:	n/a	n/a
9	MAX	chr21:45988792-45989371	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988801-45988810 chr21:45988799-45988808 chr21:45988915-45988924 chr21:45988802-45988809
10	E2F6	chr21:45989068-45989270	K562	blood:	n/a	n/a
11	CBX3	chr21:45989101-45989409	K562	blood:	n/a	n/a
12	MYC	chr21:45988902-45989377	K562	blood:	n/a	chr21:45988997-45989006 chr21:45988916-45988923 chr21:45988998-45989005 chr21:45988915-45988924
13	MAX	chr21:45989059-45989305	K562	blood:	n/a	n/a
14	GABPA	chr21:45988798-45989418	K562	blood:	n/a	chr21:45988904-45988913
15	BHLHE40	chr21:45988860-45989389	K562	blood:	n/a	chr21:45988914-45988930
16	CREB1	chr21:45989022-45989466	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45987563..45989403-chr21:45990992..45992920,2	MCF-7	breast:
2	chr21:45987378..45989214-chr21:45998869..46000795,2	MCF-7	breast:
3	chr21:45971316..45974046-chr21:45988116..45989981,2	MCF-7	breast:
4	chr21:45979063..45980801-chr21:45987415..45990235,2	MCF-7	breast:

Variant related genes	Relation type
KRTAP10-4	TF binding region
ENSG00000205445	Chromatin interaction
ENSG00000241123	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs115728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211061	0.82[CEU][hapmap]
rs170848	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs182854	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233252	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs233253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233254	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233255	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs233256	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233257	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233258	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs233259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs379858	0.82[CEU][hapmap]
rs400368	0.82[CEU][hapmap]
rs430609	0.82[CEU][hapmap]
rs434716	0.82[CEU][hapmap]
rs455413	0.82[CEU][hapmap]
rs455562	0.82[CEU][hapmap]
rs455714	0.82[CEU][hapmap]
rs455777	0.82[CEU][hapmap]
rs456444	0.82[CEU][hapmap]
rs456780	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs457322	0.82[CEU][hapmap]
rs457647	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs457698	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs458563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs459845	0.82[CEU][hapmap]
rs459915	0.82[CEU][hapmap]
rs460064	0.82[CEU][hapmap]
rs460085	0.82[CEU][hapmap]
rs460122	0.82[CEU][hapmap]
rs460166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs461436	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462254	0.82[CEU][hapmap]
rs463239	0.82[CEU][hapmap]
rs463267	0.82[CEU][hapmap]
rs463668	0.82[CEU][hapmap]
rs464281	0.82[CEU][hapmap]
rs464504	0.82[CEU][hapmap]
rs464684	0.82[CEU][hapmap]
rs465079	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465930	0.82[CEU][hapmap]
rs466094	0.82[CEU][hapmap]
rs466560	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv459297	chr21:45941000-45989488	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv587803	chr21:45941000-45989488	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv1061423	chr21:45985068-46009217	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv913951	chr21:45985068-46012524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	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
17	nsv516004	chr21:45988426-45989211	Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45978400-45994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:45987000-45989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45987800-45989400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45988200-45989400	Enhancers	Fetal Muscle Leg	muscle
5	chr21:45988200-45989800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:45989000-45994200	Weak transcription	Gastric	stomach

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