Variant report

Variant	rs7541279
Chromosome Location	chr1:224879831-224879832
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	chr1:224863910..224865687-chr1:224877704..224880301,2	K562	blood:
2	chr1:224874942..224876608-chr1:224877645..224880078,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1036431	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1039265	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10495227	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915691	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10915693	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10915695	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11805320	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12058085	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12060334	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12062831	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12065840	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12068125	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12072810	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12073052	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12077707	0.92[CEU][hapmap]
rs12079156	0.80[EUR][1000 genomes]
rs12088524	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12092532	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12562581	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12565092	0.80[EUR][1000 genomes]
rs12567125	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1337538	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1465766	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1465767	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16850786	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4363402	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61603030	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61827113	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827152	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426147	0.92[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6695864	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs7554310	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][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:17 , 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	chr1:224875000-224881600	Weak transcription	NH-A	brain
7	chr1:224875600-224888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224876200-224881200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:224876400-224881800	Weak transcription	NHDF-Ad	bronchial
10	chr1:224877400-224884000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224877600-224891600	Weak transcription	Dnd41	blood
12	chr1:224877800-224880400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:224878800-224880000	Enhancers	Ovary	ovary
14	chr1:224878800-224884200	Weak transcription	Fetal Brain Male	brain
15	chr1:224879000-224880000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:224879000-224884000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:224879400-224884200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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