Variant report

Variant	rs2422022
Chromosome Location	chr1:72130180-72130181
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	chr1:72129396..72131726-chr1:72132350..72134861,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10889923	0.90[JPT][hapmap]
rs10889924	0.87[MEX][hapmap]
rs11209815	0.83[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11576565	1.00[JPT][hapmap]
rs12120761	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12120769	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1213510	0.95[JPT][hapmap];0.82[YRI][hapmap]
rs1213511	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1213513	0.80[JPT][hapmap]
rs12136092	0.95[JPT][hapmap]
rs12401428	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12402398	0.81[EUR][1000 genomes]
rs12404086	0.95[JPT][hapmap]
rs12563509	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1350645	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1350646	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1537716	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1577396	0.90[JPT][hapmap]
rs1610385	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1762727	0.86[YRI][hapmap]
rs1762732	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs1889635	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1932178	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2152219	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422013	0.89[EUR][1000 genomes]
rs2422015	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2422016	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[EUR][1000 genomes]
rs2422017	0.84[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2422019	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2422020	0.87[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2422021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2781160	0.95[JPT][hapmap]
rs2794307	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4146731	0.90[JPT][hapmap]
rs4650114	0.83[EUR][1000 genomes]
rs479582	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs515545	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs568412	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs591031	0.93[CEU][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs61159202	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627774	0.95[JPT][hapmap];0.90[YRI][hapmap]
rs638508	0.95[JPT][hapmap];0.82[YRI][hapmap]
rs6424438	0.94[EUR][1000 genomes]
rs6424439	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6424440	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6688112	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs6696052	0.90[JPT][hapmap]
rs6704081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs717350	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72677184	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72677193	0.80[ASN][1000 genomes]
rs7521469	0.80[EUR][1000 genomes]
rs7522708	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap]
rs7529884	0.90[JPT][hapmap]
rs7538638	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs915021	0.90[JPT][hapmap]
rs954299	0.93[CEU][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs954300	0.80[CEU][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs954301	0.92[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs988786	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv461884	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv546476	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv461895	chr1:72079898-72206799	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv546477	chr1:72079898-72206799	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1006188	chr1:72081620-72215373	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv534993	chr1:72081620-72215373	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv871330	chr1:72104447-72140399	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv533779	chr1:72124095-72241965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72124000-72130400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:72126200-72130600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:72126400-72130400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:72129800-72130200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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