Variant report

Variant	rs11743860
Chromosome Location	chr5:5371810-5371811
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	chr5:5367364..5370013-chr5:5371632..5373634,2	K562	blood:

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

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

rs_ID	r²[population]
rs11134112	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11134113	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11134114	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11745458	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11745463	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11748854	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11750848	0.91[EUR][1000 genomes]
rs13172631	0.92[EUR][1000 genomes]
rs16875467	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16875480	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16875486	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16875493	0.90[EUR][1000 genomes]
rs16875502	0.89[EUR][1000 genomes]
rs3935571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41418444	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758531	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55930845	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55986458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56024322	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57657417	0.89[EUR][1000 genomes]
rs60591667	0.82[EUR][1000 genomes]
rs66478976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66550117	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66706717	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67531547	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67745304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67790736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67969635	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72726078	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726093	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:5359200-5373200	Weak transcription	Aorta	Aorta
2	chr5:5361800-5375800	Weak transcription	Spleen	Spleen
3	chr5:5364800-5372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:5365600-5375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:5365800-5372200	Weak transcription	HepG2	liver
6	chr5:5366800-5373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:5367600-5372000	Enhancers	Adipose Nuclei	Adipose
8	chr5:5370000-5372200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:5370600-5383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:5370800-5372200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:5371400-5372400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:5371400-5372400	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:5371600-5372000	Weak transcription	Liver	Liver
14	chr5:5371600-5372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:5371800-5372200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:5371800-5372200	Enhancers	HUES6 Cell Line	embryonic stem cell

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