Variant report

Variant	rs4561221
Chromosome Location	chr11:120444179-120444180
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	chr11:120444035..120445726-chr11:120447574..120449245,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11599940	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11600436	0.84[AMR][1000 genomes]
rs11601826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11602075	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11603180	0.85[AMR][1000 genomes]
rs11824600	0.81[AMR][1000 genomes]
rs12284644	0.87[EUR][1000 genomes]
rs12574365	0.90[EUR][1000 genomes]
rs12575945	0.87[ASN][1000 genomes]
rs1573789	0.85[AMR][1000 genomes]
rs17311310	0.85[AMR][1000 genomes]
rs17311317	0.85[AMR][1000 genomes]
rs17311324	0.85[AMR][1000 genomes]
rs3892497	0.85[AMR][1000 genomes]
rs4297478	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4298914	0.96[EUR][1000 genomes]
rs4936520	0.90[EUR][1000 genomes]
rs4936521	0.84[AMR][1000 genomes]
rs61900897	0.84[AMR][1000 genomes]
rs61900900	0.81[AMR][1000 genomes]
rs7103821	0.86[EUR][1000 genomes]
rs73000621	0.91[AMR][1000 genomes]
rs7929781	0.90[EUR][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	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	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr11:120436800-120444800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:120437200-120445600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:120437200-120449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120437200-120468000	Weak transcription	Right Atrium	heart
5	chr11:120440800-120445400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:120440800-120445800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:120442200-120446600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:120443200-120444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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