Variant report

Variant	rs16986438
Chromosome Location	chr22:28841049-28841050
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:28841013-28841073	K562	blood:	n/a	n/a

Variant related genes	Relation type
TTC28	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986435	0.80[AFR][1000 genomes]
rs16986449	0.80[AFR][1000 genomes]
rs16986451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986454	0.80[AFR][1000 genomes]
rs16986469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986471	0.80[AFR][1000 genomes]
rs16986480	0.80[AFR][1000 genomes]
rs16986487	0.80[AFR][1000 genomes]
rs16986494	0.80[AFR][1000 genomes]
rs16986502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986542	0.80[AFR][1000 genomes]
rs16986546	0.80[AFR][1000 genomes]
rs17883639	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17883954	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17886970	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35438111	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58065411	0.80[AFR][1000 genomes]
rs58858940	0.80[AFR][1000 genomes]
rs59463287	0.80[AFR][1000 genomes]
rs60435869	0.80[AFR][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS 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 miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28839600-28844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:28839600-28844600	Weak transcription	K562	blood
3	chr22:28839800-28841200	Enhancers	Rectal Smooth Muscle	rectum
4	chr22:28839800-28842200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:28839800-28842400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:28839800-28842400	Weak transcription	Psoas Muscle	Psoas
7	chr22:28839800-28842400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr22:28839800-28843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:28839800-28843600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:28839800-28844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28839800-28844600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28839800-28844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:28839800-28861200	Weak transcription	Ovary	ovary
14	chr22:28840000-28841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:28840000-28844600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:28840000-28844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:28840000-28844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:28840000-28844600	Weak transcription	Fetal Kidney	kidney
19	chr22:28840000-28844800	Weak transcription	HUVEC	blood vessel
20	chr22:28840000-28845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:28840000-28847000	Weak transcription	Fetal Lung	lung
22	chr22:28840000-28849600	Weak transcription	Fetal Brain Male	brain
23	chr22:28840400-28843000	Weak transcription	Fetal Brain Female	brain
24	chr22:28840400-28844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:28840400-28844600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:28840800-28841800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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