Variant report

Variant	rs416056
Chromosome Location	chr21:46018433-46018434
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	KAP1	chr21:46018172-46018955	HEK293	kidney:	n/a	n/a
2	TAF1	chr21:46017957-46018435	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr21:46017890-46018486	H1-hESC	embryonic stem cell:	n/a	n/a
4	SETDB1	chr21:46017565-46019237	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:

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

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1211061	0.92[CHB][hapmap]
rs1211088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1211118	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211122	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1211129	0.95[EUR][1000 genomes]
rs1211130	0.95[EUR][1000 genomes]
rs12627104	0.95[ASN][1000 genomes]
rs12627414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs170849	0.85[CEU][hapmap]
rs182854	0.86[CHB][hapmap]
rs2226687	0.86[JPT][hapmap]
rs233259	0.85[CHB][hapmap]
rs233262	0.82[CHB][hapmap]
rs233264	0.85[CEU][hapmap]
rs233265	0.85[CEU][hapmap]
rs233268	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs233269	0.83[EUR][1000 genomes]
rs233270	0.85[CEU][hapmap]
rs233271	0.83[EUR][1000 genomes]
rs233272	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs233298	0.85[ASN][1000 genomes]
rs233299	0.85[ASN][1000 genomes]
rs233300	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2838598	0.92[CHB][hapmap]
rs366534	0.95[ASN][1000 genomes]
rs367771	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs369111	0.90[CHB][hapmap]
rs369720	0.86[ASN][1000 genomes]
rs370092	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs377234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377263	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs377573	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379858	0.92[CHB][hapmap]
rs382935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs384645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385033	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs389936	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs390630	0.83[EUR][1000 genomes]
rs392451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392686	1.00[CEU][hapmap];0.92[CHB][hapmap];0.98[EUR][1000 genomes]
rs395781	0.95[EUR][1000 genomes]
rs398680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs400170	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400368	0.92[CHB][hapmap]
rs400406	0.83[EUR][1000 genomes]
rs403981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408183	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs408285	0.92[ASN][1000 genomes]
rs408516	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs408958	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[EUR][1000 genomes]
rs409239	0.95[EUR][1000 genomes]
rs409893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs411254	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs415753	1.00[CEU][hapmap];0.92[CHB][hapmap];0.98[EUR][1000 genomes]
rs417538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs425276	0.95[EUR][1000 genomes]
rs425823	1.00[CEU][hapmap]
rs430609	0.92[CHB][hapmap]
rs434716	0.92[CHB][hapmap]
rs437149	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs438444	0.83[EUR][1000 genomes]
rs442110	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs442226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs442600	0.86[CHB][hapmap]
rs442761	0.92[ASN][1000 genomes]
rs442849	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443484	0.83[EUR][1000 genomes]
rs445214	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs446817	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs447568	0.85[ASN][1000 genomes]
rs452002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs452547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455413	0.92[CHB][hapmap]
rs455562	0.92[CHB][hapmap]
rs455714	0.92[CHB][hapmap]
rs455777	0.92[CHB][hapmap]
rs455906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs456019	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs456444	0.92[CHB][hapmap]
rs457322	0.92[CHB][hapmap]
rs457647	0.86[CHB][hapmap]
rs459644	0.83[EUR][1000 genomes]
rs459845	0.92[CHB][hapmap]
rs459915	0.92[CHB][hapmap]
rs460064	0.92[CHB][hapmap]
rs460085	0.92[CHB][hapmap]
rs460122	0.92[CHB][hapmap]
rs462254	0.92[CHB][hapmap]
rs463239	0.92[CHB][hapmap]
rs463267	0.92[CHB][hapmap]
rs463668	0.92[CHB][hapmap]
rs463876	0.81[EUR][1000 genomes]
rs464281	0.92[CHB][hapmap]
rs464504	0.92[CHB][hapmap]
rs464684	0.92[CHB][hapmap]
rs465930	0.92[CHB][hapmap]
rs466094	0.92[CHB][hapmap]
rs466628	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs487102	1.00[CEU][hapmap]
rs56274513	0.91[ASN][1000 genomes]
rs58029281	0.83[ASN][1000 genomes]
rs58757665	0.94[ASN][1000 genomes]
rs659638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46014200-46021400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:46014600-46021600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr21:46016600-46021200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46017600-46018600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr21:46017600-46018600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr21:46017600-46018800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:46017600-46018800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:46018000-46019000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr21:46018200-46018600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr21:46018200-46021800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:46018400-46048400	Weak transcription	Right Atrium	heart

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