Variant report

Variant	rs16989809
Chromosome Location	chr22:32452776-32452777
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32447097..32450334-chr22:32450975..32454393,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12160083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989807	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs16989893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989991	1.00[EUR][1000 genomes]
rs16989997	1.00[EUR][1000 genomes]
rs16990001	1.00[CHB][hapmap]
rs1967470	0.87[AFR][1000 genomes]
rs1967471	0.87[AFR][1000 genomes]
rs2019949	0.88[JPT][hapmap]
rs3888536	0.88[JPT][hapmap]
rs4488763	1.00[JPT][hapmap]
rs55866220	1.00[AMR][1000 genomes]
rs57131182	1.00[AMR][1000 genomes]
rs58101586	1.00[EUR][1000 genomes]
rs58185981	1.00[EUR][1000 genomes]
rs5994475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998188	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs5998253	0.88[JPT][hapmap]
rs5998265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998300	1.00[CHB][hapmap]
rs60744612	1.00[AMR][1000 genomes]
rs7289853	0.87[AFR][1000 genomes]
rs738993	0.88[JPT][hapmap]
rs8136915	1.00[EUR][1000 genomes]
rs8142324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	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
7	nsv1063267	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv544679	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1067007	chr22:32400566-32452776	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1065893	chr22:32400566-32453047	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	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
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16989809	KRT31	trans	brain	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32441200-32455200	Weak transcription	Gastric	stomach
2	chr22:32441800-32452800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:32442200-32468400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:32442200-32469200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:32442800-32460400	Weak transcription	Small Intestine	intestine
6	chr22:32446800-32454800	Weak transcription	Psoas Muscle	Psoas
7	chr22:32447200-32455200	Weak transcription	Right Atrium	heart
8	chr22:32447600-32453000	Weak transcription	Placenta	Placenta
9	chr22:32447600-32453200	Weak transcription	Left Ventricle	heart
10	chr22:32447600-32453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:32448800-32455000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr22:32449400-32455000	Strong transcription	Fetal Intestine Small	intestine
13	chr22:32451600-32453600	Strong transcription	Fetal Intestine Large	intestine
14	chr22:32452400-32454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:32452600-32454800	Enhancers	Fetal Heart	heart

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