Variant report

Variant	rs2238701
Chromosome Location	chr20:52673923-52673924
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52640020..52640592-chr20:52673395..52674189,2	MCF-7	breast:
2	chr20:52573993..52574848-chr20:52673290..52674223,4	MCF-7	breast:
3	chr20:52194925..52195881-chr20:52673362..52674148,2	MCF-7	breast:
4	chr20:52673672..52674220-chr20:53263214..53263796,2	MCF-7	breast:
5	chr20:52556030..52560309-chr20:52671948..52677336,4	K562	blood:
6	chr20:52622694..52625082-chr20:52673382..52675539,2	K562	blood:
7	chr10:55481740..55482260-chr20:52673713..52674214,2	MCF-7	breast:
8	chr20:52673799..52674514-chr20:52815863..52816738,3	MCF-7	breast:
9	chr20:52560024..52560977-chr20:52673636..52674212,3	MCF-7	breast:
10	chr20:52673211..52674158-chr20:52814408..52815314,3	MCF-7	breast:
11	chr20:52445412..52448214-chr20:52672686..52675334,2	MCF-7	breast:
12	chr20:52671848..52674033-chr20:55841179..55843003,2	MCF-7	breast:
13	chr20:52673368..52674145-chr20:52824449..52824976,2	MCF-7	breast:
14	chr20:52671492..52674058-chr20:55837796..55841174,3	MCF-7	breast:
15	chr20:52666156..52668326-chr20:52673321..52675547,2	K562	blood:
16	chr20:52566777..52568364-chr20:52673841..52675908,2	K562	blood:
17	chr20:52195404..52195953-chr20:52673560..52674273,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11905945	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1381983	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1381984	0.90[ASN][1000 genomes]
rs1557853	0.82[ASN][1000 genomes]
rs2072128	0.82[ASN][1000 genomes]
rs2107327	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2189502	0.82[ASN][1000 genomes]
rs2214530	0.82[ASN][1000 genomes]
rs2276487	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2276488	0.89[ASN][1000 genomes]
rs2276489	0.89[ASN][1000 genomes]
rs2299698	0.89[AMR][1000 genomes]
rs2299699	0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2299701	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2299702	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2299704	0.94[JPT][hapmap]
rs2299705	0.90[ASN][1000 genomes]
rs2299707	0.90[ASN][1000 genomes]
rs2299711	0.82[ASN][1000 genomes]
rs2299712	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2299715	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2299718	0.80[AMR][1000 genomes]
rs2870304	0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34973146	0.90[ASN][1000 genomes]
rs35883829	0.90[ASN][1000 genomes]
rs6091808	0.82[ASN][1000 genomes]
rs6091811	0.82[ASN][1000 genomes]
rs6091812	0.82[ASN][1000 genomes]
rs6123344	0.80[ASN][1000 genomes]
rs6123345	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6127060	0.80[AMR][1000 genomes]
rs6127062	0.80[AMR][1000 genomes]
rs6127063	0.80[ASN][1000 genomes]
rs6127065	0.84[ASN][1000 genomes]
rs6127066	0.90[ASN][1000 genomes]
rs6127068	0.90[ASN][1000 genomes]
rs67082409	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71323984	0.90[ASN][1000 genomes]
rs73133436	0.92[AMR][1000 genomes]
rs732344	0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs765348	0.94[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach
2	chr20:52645200-52682200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:52666600-52675200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr20:52669400-52681800	Weak transcription	Gastric	stomach
5	chr20:52673000-52674000	Weak transcription	Rectal Mucosa Donor 29	rectum

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