Variant report

Variant	rs5998234
Chromosome Location	chr22:32483350-32483351
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32477762-32487457..22:32846948-32860159	Hela-S3	cervix:
2	22:31936958-31958600..22:32477762-32487457	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1076905	1.00[JPT][hapmap]
rs1076906	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11089537	0.86[ASN][1000 genomes]
rs12159428	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160839	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006233	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2006253	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28590200	1.00[ASN][1000 genomes]
rs55920759	0.86[ASN][1000 genomes]
rs5994463	1.00[MEX][hapmap]
rs5994471	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994472	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998221	1.00[MEX][hapmap]
rs5998222	1.00[MEX][hapmap]
rs5998225	1.00[MEX][hapmap]
rs5998249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998264	0.86[ASN][1000 genomes]
rs7287435	0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291826	1.00[MEX][hapmap]
rs8138116	1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142970	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9606897	1.00[JPT][hapmap]
rs9606899	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9606900	1.00[JPT][hapmap]
rs9606901	1.00[ASN][1000 genomes]
rs9606909	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606910	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606911	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609397	1.00[JPT][hapmap]
rs9609413	1.00[JPT][hapmap]
rs9609421	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9609422	1.00[ASN][1000 genomes]
rs9609424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609434	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609435	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609438	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609440	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609445	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32469400-32489800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32473400-32495000	Weak transcription	Colonic Mucosa	Colon
3	chr22:32473600-32495600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:32476200-32495800	Weak transcription	Stomach Mucosa	stomach
5	chr22:32476600-32499400	Weak transcription	Pancreas	Pancrea
6	chr22:32477600-32486200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr22:32480000-32490400	Weak transcription	Spleen	Spleen
8	chr22:32480400-32484000	Strong transcription	Fetal Intestine Large	intestine
9	chr22:32482400-32483800	Weak transcription	Fetal Intestine Small	intestine
10	chr22:32482600-32483400	Weak transcription	Left Ventricle	heart
11	chr22:32482600-32485200	Enhancers	Fetal Heart	heart
12	chr22:32482600-32492000	Weak transcription	Right Ventricle	heart

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