Variant report

Variant	rs134194
Chromosome Location	chr22:28653899-28653900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28649522..28652291-chr22:28652428..28654001,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10154425	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs10212036	1.00[ASN][1000 genomes]
rs10212074	1.00[ASN][1000 genomes]
rs10212083	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	1.00[ASW][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap]
rs10483151	0.91[CEU][hapmap]
rs12166023	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs12166158	1.00[ASN][1000 genomes]
rs12166253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.90[YRI][hapmap]
rs12166740	0.81[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs12166912	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs12167735	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	1.00[ASN][1000 genomes]
rs12168180	0.81[CEU][hapmap]
rs12168652	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168708	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12168851	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12170022	1.00[ASN][1000 genomes]
rs12170637	0.91[CEU][hapmap]
rs1297607	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs134197	0.91[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134488	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs134506	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs134514	0.91[CEU][hapmap];0.88[MEX][hapmap]
rs134524	0.91[CEU][hapmap]
rs134547	0.91[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap]
rs16985967	1.00[ASW][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap]
rs16985976	1.00[ASN][1000 genomes]
rs16986037	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap]
rs16986077	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs16986398	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs16987005	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs17407024	1.00[ASN][1000 genomes]
rs17413461	0.91[CEU][hapmap]
rs17487463	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2143420	1.00[ASW][hapmap]
rs2345717	0.87[AMR][1000 genomes]
rs28579300	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55846737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55856549	1.00[ASN][1000 genomes]
rs56233401	1.00[ASN][1000 genomes]
rs56391942	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57686964	1.00[ASN][1000 genomes]
rs58823697	1.00[ASN][1000 genomes]
rs58936636	0.86[AFR][1000 genomes]
rs73437900	0.83[EUR][1000 genomes]
rs738200	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	1.00[ASN][1000 genomes]
rs73880395	1.00[ASN][1000 genomes]
rs73882704	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882711	0.86[AFR][1000 genomes]
rs73882720	0.81[AFR][1000 genomes]
rs73882721	0.81[AFR][1000 genomes]
rs761322	1.00[ASN][1000 genomes]
rs761323	1.00[ASN][1000 genomes]
rs9306452	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9620768	0.81[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs9620769	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs9620770	1.00[ASW][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[ASN][1000 genomes]
rs9620771	1.00[ASN][1000 genomes]
rs9620778	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9620779	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.81[CEU][hapmap]
rs9625405	1.00[ASN][1000 genomes]
rs9625406	1.00[ASN][1000 genomes]
rs9625407	1.00[ASN][1000 genomes]
rs9625408	1.00[ASN][1000 genomes]
rs9625409	1.00[ASN][1000 genomes]
rs9625410	1.00[ASN][1000 genomes]
rs9625413	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625416	0.81[CEU][hapmap]
rs9625417	0.81[CEU][hapmap]
rs9625418	1.00[ASN][1000 genomes]
rs9625421	1.00[ASN][1000 genomes]
rs9625425	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625433	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625437	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625438	0.91[CEU][hapmap]
rs9625440	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625447	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625467	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9625475	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs988893	0.97[AFR][1000 genomes];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	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3422513	chr22:28652702-28656200	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3341381	chr22:28653302-28654450	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
3	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
4	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
6	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
7	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:28651600-28663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:28651800-28690600	Weak transcription	Dnd41	blood
11	chr22:28653000-28664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:28653000-28665000	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
14	chr22:28653200-28655800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:28653200-28655800	Weak transcription	Fetal Lung	lung
16	chr22:28653600-28655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28653600-28656000	Weak transcription	Small Intestine	intestine

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