Variant report

Variant	rs13220044
Chromosome Location	chr6:114077715-114077716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13193860	0.81[AMR][1000 genomes]
rs13200525	0.84[AMR][1000 genomes]
rs13201785	0.81[AMR][1000 genomes]
rs13204232	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13207760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208937	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209808	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17789266	0.84[AMR][1000 genomes]
rs2695454	0.81[AMR][1000 genomes]
rs34206951	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34736881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34753135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34832025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34950886	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35384158	0.93[ASN][1000 genomes]
rs35409527	0.81[AMR][1000 genomes]
rs35470926	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35542449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35902942	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36000791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62417365	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66794022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66812545	0.80[ASN][1000 genomes]
rs71541084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960759	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv464023	chr6:114071720-114114057	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv604532	chr6:114071720-114114057	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114067400-114079200	Weak transcription	Placenta	Placenta
2	chr6:114071800-114079200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:114072000-114079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:114075400-114078600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:114076800-114077800	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:114077000-114077800	Enhancers	HSMMtube	muscle
7	chr6:114077000-114085000	Weak transcription	Psoas Muscle	Psoas
8	chr6:114077400-114079600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:114077400-114080400	Weak transcription	Primary B cells from cord blood	blood
10	chr6:114077600-114080200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:114077600-114080200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:114077600-114080800	Enhancers	GM12878-XiMat	blood
13	chr6:114077600-114083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:114077600-114084600	Weak transcription	HSMM	muscle

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