Variant report

Variant	rs2055686
Chromosome Location	chr1:98571169-98571170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98569136..98572043-chr1:98573208..98575634,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1032196	0.97[ASN][1000 genomes]
rs10493900	0.94[ASN][1000 genomes]
rs10518654	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783085	0.85[ASN][1000 genomes]
rs10875130	0.97[ASN][1000 genomes]
rs10875131	0.94[ASN][1000 genomes]
rs10875132	0.85[ASN][1000 genomes]
rs11165950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11165951	0.97[ASN][1000 genomes]
rs11165952	0.97[ASN][1000 genomes]
rs11165953	0.94[ASN][1000 genomes]
rs11165954	0.97[ASN][1000 genomes]
rs11165955	0.97[ASN][1000 genomes]
rs11165956	0.97[ASN][1000 genomes]
rs11165957	0.97[ASN][1000 genomes]
rs11165958	0.97[ASN][1000 genomes]
rs11165961	0.97[ASN][1000 genomes]
rs11165964	0.82[ASN][1000 genomes]
rs11580992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802316	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807935	0.97[ASN][1000 genomes]
rs11809431	0.97[ASN][1000 genomes]
rs11809984	0.82[ASN][1000 genomes]
rs12021635	0.97[ASN][1000 genomes]
rs12021663	0.97[ASN][1000 genomes]
rs12027634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033249	0.97[ASN][1000 genomes]
rs12038627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043365	0.97[ASN][1000 genomes]
rs12044342	0.97[ASN][1000 genomes]
rs12046836	0.97[ASN][1000 genomes]
rs12401542	0.97[ASN][1000 genomes]
rs12407126	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407367	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567176	0.90[ASN][1000 genomes]
rs12567725	0.97[ASN][1000 genomes]
rs12734525	0.80[ASN][1000 genomes]
rs1352254	0.97[ASN][1000 genomes]
rs1487289	0.97[ASN][1000 genomes]
rs1487301	0.90[ASN][1000 genomes]
rs1487302	0.97[ASN][1000 genomes]
rs17117613	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117616	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117677	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117759	0.97[ASN][1000 genomes]
rs17117764	0.97[ASN][1000 genomes]
rs17117765	0.94[ASN][1000 genomes]
rs17117766	0.97[ASN][1000 genomes]
rs17117881	0.88[ASN][1000 genomes]
rs1911501	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911502	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046585	0.97[ASN][1000 genomes]
rs2200583	0.90[ASN][1000 genomes]
rs355373	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs355376	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs355377	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs355379	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950095	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950096	0.97[ASN][1000 genomes]
rs4950097	0.82[ASN][1000 genomes]
rs6664310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525127	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv432531	chr1:98524979-98604179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv823631	chr1:98554257-98687985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv462583	chr1:98554409-98645213	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546875	chr1:98554409-98645213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98568800-98571400	Enhancers	Fetal Brain Male	brain
2	chr1:98569400-98571200	Enhancers	Liver	Liver
3	chr1:98570000-98572600	Weak transcription	HMEC	breast
4	chr1:98570200-98572600	Weak transcription	A549	lung
5	chr1:98570400-98571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:98570400-98572600	Weak transcription	HSMMtube	muscle
7	chr1:98570400-98572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:98570800-98576200	Weak transcription	Hela-S3	cervix

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