Variant report

Variant	rs457322
Chromosome Location	chr21:45995141-45995142
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	MAZ	chr21:45994649-45995195	HepG2	liver:	n/a	chr21:45995088-45995097
2	MAX	chr21:45994549-45995332	HepG2	liver:	n/a	chr21:45995088-45995097
3	RXRA	chr21:45994684-45995261	HepG2	liver:	n/a	chr21:45995024-45995033
4	EP300	chr21:45994819-45995266	HepG2	liver:	n/a	chr21:45995019-45995033
5	EP300	chr21:45994456-45995226	ECC-1	luminal epithelium:	n/a	chr21:45995019-45995033
6	MAX	chr21:45994575-45995340	ECC-1	luminal epithelium:	n/a	chr21:45995088-45995097
7	ELF1	chr21:45994782-45995162	HepG2	liver:	n/a	n/a
8	TCF12	chr21:45994421-45995259	ECC-1	luminal epithelium:	n/a	chr21:45995252-45995259
9	HNF4A	chr21:45994770-45995162	HepG2	liver:	n/a	n/a
10	HNF4A	chr21:45994784-45995183	HepG2	liver:	n/a	n/a
11	SP1	chr21:45994709-45995239	HepG2	liver:	n/a	chr21:45995063-45995075 chr21:45995212-45995233 chr21:45995060-45995074 chr21:45995064-45995073 chr21:45995063-45995075
12	HSF1	chr21:45994810-45995278	HepG2	liver:	n/a	chr21:45995079-45995091 chr21:45995077-45995092 chr21:45995079-45995091 chr21:45995078-45995094
13	HNF4A	chr21:45994454-45995204	HepG2	liver:	n/a	n/a
14	TCF12	chr21:45994478-45995247	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr21:45994697-45995162	ECC-1	luminal epithelium:	n/a	n/a
16	RXRA	chr21:45994755-45995181	HepG2	liver:	n/a	chr21:45995024-45995033
17	CHD2	chr21:45994914-45995251	HepG2	liver:	n/a	chr21:45995063-45995073

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:
2	chr21:45947897..45950026-chr21:45993818..45996487,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTAP10-4-1	chr21:45994970-45995428	NONHSAT082869

Variant related genes	Relation type
TSPEAR	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1211057	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211058	0.90[EUR][1000 genomes]
rs1211059	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211060	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211088	0.87[CHB][hapmap]
rs1211089	0.87[CHB][hapmap]
rs1211103	0.87[CHB][hapmap]
rs1211121	0.83[CHB][hapmap]
rs1211123	0.81[CHB][hapmap]
rs12627414	0.87[CHB][hapmap]
rs144266	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs144267	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs170849	0.87[CHB][hapmap]
rs182854	0.82[CEU][hapmap]
rs2226687	0.87[CHB][hapmap]
rs233252	0.82[CEU][hapmap]
rs233253	0.82[CEU][hapmap]
rs233259	0.82[CEU][hapmap]
rs233262	0.93[CHB][hapmap]
rs233264	0.82[CHB][hapmap]
rs233265	0.88[CHB][hapmap]
rs233287	0.88[ASN][1000 genomes]
rs233288	0.86[ASN][1000 genomes]
rs233289	0.81[ASN][1000 genomes]
rs2838598	0.82[CHB][hapmap]
rs367771	0.83[CHB][hapmap]
rs369111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs370092	0.82[CHB][hapmap]
rs371248	0.88[CHB][hapmap]
rs377234	0.87[CHB][hapmap]
rs379858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs380585	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs382935	0.87[CHB][hapmap]
rs384645	0.88[CHB][hapmap]
rs392451	0.88[CHB][hapmap]
rs392686	0.82[CHB][hapmap]
rs396912	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs398680	0.87[CHB][hapmap]
rs400368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs401727	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403940	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs403981	0.87[CHB][hapmap]
rs404341	0.87[CHB][hapmap]
rs408958	0.83[CHB][hapmap]
rs409893	0.87[CHB][hapmap]
rs411254	0.87[CHB][hapmap]
rs412062	0.90[EUR][1000 genomes]
rs415753	0.82[CHB][hapmap]
rs416056	0.92[CHB][hapmap]
rs417538	0.86[CHB][hapmap]
rs418260	0.87[CHB][hapmap]
rs425823	0.83[CHB][hapmap]
rs426512	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs426973	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs430609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs430791	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs432174	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs434716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs442226	0.88[CHB][hapmap]
rs442600	1.00[CHB][hapmap]
rs445214	0.87[CHB][hapmap]
rs452002	0.87[CHB][hapmap]
rs455413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs455714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455906	0.85[CHB][hapmap]
rs455911	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs456444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs456780	0.82[CEU][hapmap]
rs457697	0.82[CEU][hapmap]
rs457974	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs458563	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs459667	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs459845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs459915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460166	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs460546	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs461815	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs462025	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs462254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs462349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462697	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs462711	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463966	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs464281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464391	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464424	0.89[ASN][1000 genomes]
rs464504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs465079	0.82[CEU][hapmap]
rs465333	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs466094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs466560	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs487102	0.82[CHB][hapmap]
rs659638	0.87[CHB][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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	esv3421605	chr21:45992974-45995472	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45994200-45995600	Enhancers	Liver	Liver
2	chr21:45994400-45995200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:45994400-45995200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:45994400-45995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:45994400-45995400	Enhancers	Spleen	Spleen
6	chr21:45994600-45995200	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr21:45994600-45995400	Enhancers	Colonic Mucosa	Colon
8	chr21:45994600-45995400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr21:45994600-46003800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:45994800-45995800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr21:45995000-45995600	Enhancers	Duodenum Mucosa	Duodenum
12	chr21:45995000-45995600	Enhancers	HepG2	liver
13	chr21:45995000-45995800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:45995000-45998600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:45995000-45999200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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