Variant report

Variant	rs56251378
Chromosome Location	chr21:16959273-16959274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16714657..16715283-chr21:16959040..16959755,2	MCF-7	breast:
2	chr21:16714657..16715579-chr21:16959040..16959762,3	MCF-7	breast:
3	chr21:16816198..16817284-chr21:16958851..16959824,9	MCF-7	breast:
4	chr21:16614000..16614891-chr21:16959269..16959857,2	MCF-7	breast:
5	chr21:16628032..16628906-chr21:16958977..16959827,3	MCF-7	breast:
6	chr21:16545059..16545679-chr21:16959234..16959876,3	MCF-7	breast:
7	chr21:16545107..16545912-chr21:16958930..16959648,3	MCF-7	breast:
8	chr21:16919633..16920412-chr21:16959232..16959914,4	MCF-7	breast:
9	chr21:16235383..16236247-chr21:16959008..16959755,5	MCF-7	breast:
10	chr21:16582221..16583302-chr21:16958882..16959791,8	MCF-7	breast:
11	chr21:16504814..16505341-chr21:16958945..16959492,2	MCF-7	breast:
12	chr21:16377371..16378318-chr21:16958890..16959802,6	MCF-7	breast:
13	chr21:16959176..16959732-chr21:17011225..17011757,2	MCF-7	breast:
14	chr21:16816289..16817284-chr21:16958965..16959779,4	MCF-7	breast:
15	chr21:16377414..16378299-chr21:16958983..16959853,8	MCF-7	breast:
16	chr21:16375495..16376174-chr21:16958877..16959820,3	MCF-7	breast:
17	chr21:16582204..16583291-chr21:16958900..16960163,20	MCF-7	breast:
18	chr21:16504869..16505637-chr21:16958997..16959745,3	MCF-7	breast:
19	chr21:16580047..16580567-chr21:16959256..16959831,2	MCF-7	breast:
20	chr21:16582189..16583291-chr21:16958890..16959931,32	MCF-7	breast:
21	chr21:16545107..16545924-chr21:16958930..16959783,5	MCF-7	breast:
22	chr21:16377414..16378279-chr21:16958983..16959803,3	MCF-7	breast:
23	chr21:16579850..16580693-chr21:16958976..16959754,3	MCF-7	breast:
24	chr21:16580067..16580933-chr21:16958897..16959756,2	MCF-7	breast:
25	chr21:16571579..16572982-chr21:16958893..16959825,7	MCF-7	breast:
26	chr21:16919441..16920015-chr21:16959232..16959755,2	MCF-7	breast:
27	chr21:16919601..16920251-chr21:16958950..16959914,3	MCF-7	breast:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2037992	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037993	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037994	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242850	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403976	0.98[EUR][1000 genomes]
rs4393820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55928270	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119165	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331926	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56390025	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73177205	0.84[EUR][1000 genomes]
rs73892668	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892669	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892670	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914117	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv528246	chr21:16935888-16980039	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16958200-16960800	Enhancers	Fetal Intestine Small	intestine
2	chr21:16958200-16961000	Enhancers	Fetal Intestine Large	intestine
3	chr21:16958800-16959400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr21:16959000-16959800	Enhancers	Rectal Mucosa Donor 31	rectum

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