Variant report

Variant	rs621150
Chromosome Location	chr11:119847991-119847992
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	chr11:119846486..119848999-chr11:119849174..119851937,3	K562	blood:
2	chr11:119847784..119851574-chr11:119854250..119856305,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10750167	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10790357	0.86[ASN][1000 genomes]
rs10790359	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10790360	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10892504	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1787024	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1944504	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1944505	0.86[ASN][1000 genomes]
rs4245210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs601052	0.84[ASN][1000 genomes]
rs602030	0.84[ASN][1000 genomes]
rs615539	0.84[ASN][1000 genomes]
rs626466	0.83[ASN][1000 genomes]
rs636518	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs651055	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6589784	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662318	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677027	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677428	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678914	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs731392	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs731393	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7342270	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7944850	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951479	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7951593	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949096	0.81[AMR][1000 genomes];0.86[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119844200-119849600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:119846200-119850400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:119846200-119853000	Enhancers	Fetal Intestine Large	intestine
4	chr11:119846400-119853000	Enhancers	Fetal Intestine Small	intestine
5	chr11:119846800-119848800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:119846800-119853200	Weak transcription	Fetal Brain Female	brain
7	chr11:119846800-119858600	Weak transcription	Fetal Heart	heart
8	chr11:119847000-119848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:119847000-119848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:119847000-119849800	Weak transcription	Right Atrium	heart
11	chr11:119847400-119848400	Enhancers	Brain Angular Gyrus	brain
12	chr11:119847600-119848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:119847600-119849000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:119847800-119848000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:119847800-119848000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:119847800-119848000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:119847800-119848000	Active TSS	Brain Substantia Nigra	brain
18	chr11:119847800-119848800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:119847800-119848800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:119847800-119849000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:119847800-119851400	Weak transcription	Brain Germinal Matrix	brain
22	chr11:119847800-119853400	Weak transcription	Brain Anterior Caudate	brain

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