Variant report

Variant	rs6005478
Chromosome Location	chr22:27895111-27895112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs2065061	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap]
rs521076	1.00[CEU][hapmap]
rs5752574	1.00[EUR][1000 genomes]
rs5762208	0.83[AFR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5997260	0.93[AFR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005475	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005476	0.93[AFR][1000 genomes]
rs6005477	0.89[AFR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738564	1.00[EUR][1000 genomes]
rs9306443	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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27880000-27895200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27885000-27902800	Weak transcription	Aorta	Aorta
3	chr22:27891600-27895400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:27891600-27896600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:27891600-27897400	Weak transcription	Psoas Muscle	Psoas
6	chr22:27891800-27896400	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:27891800-27897200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:27892000-27895600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:27892200-27897400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:27893000-27899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:27893000-27899600	Weak transcription	NHEK	skin
12	chr22:27893000-27899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:27894400-27896400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27894400-27896600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:27894400-27897800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr22:27894800-27895200	Enhancers	Fetal Muscle Trunk	muscle
17	chr22:27894800-27895200	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:27894800-27896400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:27895000-27897600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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