Variant report

Variant	rs11750848
Chromosome Location	chr5:5375621-5375622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5349395..5352010-chr5:5374530..5376336,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11134112	0.87[EUR][1000 genomes]
rs11134113	0.83[EUR][1000 genomes]
rs11134114	0.83[EUR][1000 genomes]
rs11743860	0.91[EUR][1000 genomes]
rs11745458	0.92[EUR][1000 genomes]
rs11745463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748854	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875378	0.98[ASN][1000 genomes]
rs16875467	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875474	1.00[ASN][1000 genomes]
rs16875480	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875493	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875502	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3935571	0.92[EUR][1000 genomes]
rs41418444	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758531	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55930845	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55986458	0.91[EUR][1000 genomes]
rs56024322	0.91[EUR][1000 genomes]
rs57657417	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60591667	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66478976	0.92[EUR][1000 genomes]
rs66550117	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66706717	0.91[EUR][1000 genomes]
rs67531547	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67745304	0.92[EUR][1000 genomes]
rs67790736	0.91[EUR][1000 genomes]
rs67969635	0.91[EUR][1000 genomes]
rs72726078	0.88[EUR][1000 genomes]
rs72726093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726095	0.92[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5361800-5375800	Weak transcription	Spleen	Spleen
2	chr5:5365600-5375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5370600-5383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:5372600-5377600	Weak transcription	Right Ventricle	heart
5	chr5:5373400-5376200	Weak transcription	Pancreas	Pancrea
6	chr5:5373400-5376400	Weak transcription	Gastric	stomach
7	chr5:5373400-5381400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:5374200-5375800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:5374200-5376200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:5374400-5377200	Weak transcription	Adipose Nuclei	Adipose
11	chr5:5374600-5380400	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:5375000-5380000	Weak transcription	NH-A	brain
13	chr5:5375400-5376000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:5375600-5376800	Enhancers	HepG2	liver

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