Variant report

Variant	rs631454
Chromosome Location	chr21:40953128-40953129
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40951212..40954090-chr21:41083007..41085637,2	MCF-7	breast:
2	chr21:40902475..40904077-chr21:40952462..40954060,2	MCF-7	breast:
3	chr21:40951091..40953456-chr21:41032196..41036006,4	MCF-7	breast:
4	chr21:40816623..40819045-chr21:40951462..40953239,2	MCF-7	breast:
5	chr21:40899001..40900930-chr21:40949117..40954040,4	MCF-7	breast:
6	chr21:40950425..40953784-chr21:40975609..40978181,3	MCF-7	breast:
7	chr21:40951149..40953987-chr21:41066958..41068611,2	MCF-7	breast:
8	chr21:40933376..40935680-chr21:40951136..40954071,2	MCF-7	breast:
9	chr21:40951078..40953695-chr21:41039084..41042090,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157578	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1734930	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837074	0.90[ASN][1000 genomes]
rs2837083	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989335	0.90[ASN][1000 genomes]
rs492140	1.00[ASN][1000 genomes]
rs503729	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506387	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516865	1.00[ASN][1000 genomes]
rs523372	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526526	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527343	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528499	1.00[ASN][1000 genomes]
rs529409	1.00[ASN][1000 genomes]
rs538333	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542531	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551439	1.00[ASN][1000 genomes]
rs551624	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551680	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551830	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554401	1.00[ASN][1000 genomes]
rs555963	1.00[ASN][1000 genomes]
rs561166	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562285	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563230	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563259	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564126	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567837	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568840	0.90[ASN][1000 genomes]
rs571227	0.90[ASN][1000 genomes]
rs579841	0.90[ASN][1000 genomes]
rs585092	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59155174	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596320	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602107	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611039	1.00[ASN][1000 genomes]
rs611958	1.00[ASN][1000 genomes]
rs613758	1.00[ASN][1000 genomes]
rs617259	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626856	0.81[ASN][1000 genomes]
rs628995	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629432	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630270	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636599	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646823	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650633	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651607	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657833	0.90[ASN][1000 genomes]
rs658066	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665778	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv9863	chr21:40951227-40953760	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40948800-40955000	Weak transcription	Right Atrium	heart
2	chr21:40948800-40959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:40949400-40959000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:40951800-40954000	Enhancers	Stomach Mucosa	stomach
5	chr21:40952000-40953600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr21:40952600-40953200	Enhancers	Spleen	Spleen
7	chr21:40952800-40953600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr21:40953000-40953200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:40953000-40953400	Enhancers	Duodenum Mucosa	Duodenum
10	chr21:40953000-40953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr21:40953000-40953600	Enhancers	Fetal Intestine Large	intestine
12	chr21:40953000-40953600	Enhancers	Pancreas	Pancrea
13	chr21:40953000-40953600	Enhancers	Sigmoid Colon	Sigmoid Colon

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