Variant report

Variant	rs73881608
Chromosome Location	chr22:32500434-32500435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32499630-32503866..22:32740683-32750950	H1-hESC	embryonic stem cell:	embryo
2	22:32499630-32503866..22:32860159-32865649	H1-hESC	embryonic stem cell:	embryo
3	22:32499630-32503866..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128276	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs33968460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788758	1.00[AMR][1000 genomes]
rs56131484	1.00[AMR][1000 genomes]
rs57518663	1.00[AMR][1000 genomes]
rs60666969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60686589	1.00[AMR][1000 genomes]
rs61029609	1.00[AMR][1000 genomes]
rs61186856	1.00[AMR][1000 genomes]
rs61699774	1.00[AMR][1000 genomes]
rs73881605	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881606	1.00[AMR][1000 genomes]
rs73881613	1.00[AMR][1000 genomes]
rs73884237	1.00[AMR][1000 genomes]
rs73884242	1.00[AMR][1000 genomes]
rs73884243	1.00[AMR][1000 genomes]
rs73884247	1.00[AMR][1000 genomes]
rs73884248	1.00[AMR][1000 genomes]
rs73884251	1.00[AMR][1000 genomes]
rs73884253	1.00[AMR][1000 genomes]
rs73884254	1.00[AMR][1000 genomes]
rs73884263	1.00[AMR][1000 genomes]
rs73884268	1.00[AMR][1000 genomes]
rs73884269	1.00[AMR][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	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv3596	chr22:32491329-32507091	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	20 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	chr22:32486400-32508400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:32490200-32504000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:32491200-32511400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr22:32493200-32515400	Weak transcription	Right Ventricle	heart
5	chr22:32496200-32508400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:32498800-32500600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:32499400-32501200	Strong transcription	Left Ventricle	heart
8	chr22:32499400-32502200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:32500000-32500800	Strong transcription	Fetal Heart	heart
10	chr22:32500200-32501200	Strong transcription	Fetal Intestine Large	intestine
11	chr22:32500400-32510800	Strong transcription	Fetal Intestine Small	intestine

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