Variant report

Variant	rs6695253
Chromosome Location	chr1:224882381-224882382
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	chr1:224874309..224876593-chr1:224880376..224882878,2	K562	blood:
2	chr1:224873427..224876593-chr1:224880376..224882893,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004222	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10495226	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915688	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12117838	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12118368	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12122421	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124222	0.90[AMR][1000 genomes]
rs12125381	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12130632	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12135641	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12136553	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12137592	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12139845	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143128	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143215	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143246	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16852009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852083	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16852090	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2405527	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4360496	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5002414	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55927231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666956	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6672460	0.90[AMR][1000 genomes]
rs6685335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694298	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6694864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696394	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879363	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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
3	chr1:224871800-224884600	Weak transcription	Fetal Brain Female	brain
4	chr1:224873000-224884800	Weak transcription	NHLF	lung
5	chr1:224873400-224884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:224875600-224888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224877400-224884000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:224877600-224891600	Weak transcription	Dnd41	blood
9	chr1:224878800-224884200	Weak transcription	Fetal Brain Male	brain
10	chr1:224879000-224884000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:224879400-224884200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224881000-224885200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:224881200-224882600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:224881400-224895400	Weak transcription	Ovary	ovary
15	chr1:224882200-224884000	Weak transcription	NHDF-Ad	bronchial
16	chr1:224882200-224884600	Weak transcription	NH-A	brain

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