Variant report

Variant	rs17484003
Chromosome Location	chr12:40587521-40587522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10506144	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10506147	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11174697	0.93[EUR][1000 genomes]
rs11175186	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175593	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564107	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564117	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564131	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11564152	0.87[EUR][1000 genomes]
rs11564153	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564185	0.87[EUR][1000 genomes]
rs11564187	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564190	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11564199	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564209	0.87[EUR][1000 genomes]
rs11564210	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564214	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11564216	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564271	0.87[EUR][1000 genomes]
rs12422544	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12422796	0.87[EUR][1000 genomes]
rs12424040	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425561	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12426378	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426643	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12427245	0.87[EUR][1000 genomes]
rs1388585	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388597	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1463717	0.87[EUR][1000 genomes]
rs1491945	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17442924	0.93[EUR][1000 genomes]
rs17443078	0.93[EUR][1000 genomes]
rs17443178	0.86[EUR][1000 genomes]
rs17443185	0.93[EUR][1000 genomes]
rs17443206	0.93[EUR][1000 genomes]
rs17443600	0.87[EUR][1000 genomes]
rs17443656	0.87[EUR][1000 genomes]
rs17443909	0.80[EUR][1000 genomes]
rs17444028	0.87[EUR][1000 genomes]
rs17444054	0.87[EUR][1000 genomes]
rs17458549	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17461387	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17461575	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17461664	0.87[EUR][1000 genomes]
rs17465610	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17465946	0.80[EUR][1000 genomes]
rs17466016	0.87[EUR][1000 genomes]
rs17483919	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17484342	0.87[EUR][1000 genomes]
rs2131081	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2638223	0.93[EUR][1000 genomes]
rs2708460	0.93[EUR][1000 genomes]
rs28365169	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365173	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365206	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28365229	0.80[EUR][1000 genomes]
rs28365689	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370649	0.86[EUR][1000 genomes]
rs28370650	0.86[EUR][1000 genomes]
rs28370664	0.87[EUR][1000 genomes]
rs28370682	0.93[EUR][1000 genomes]
rs28370830	0.93[EUR][1000 genomes]
rs36212067	0.87[EUR][1000 genomes]
rs36220738	0.87[EUR][1000 genomes]
rs4628750	0.87[EUR][1000 genomes]
rs4767962	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4767964	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767965	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768213	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768226	0.87[EUR][1000 genomes]
rs4768228	0.87[EUR][1000 genomes]
rs535458	1.00[AFR][1000 genomes]
rs72547977	0.80[EUR][1000 genomes]
rs729215	0.81[AMR][1000 genomes];1.00[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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr12:40586000-40587600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:40586800-40588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:40587000-40587800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:40587000-40588000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:40587000-40588200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:40587200-40587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:40587200-40588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:40587200-40588200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:40587200-40588200	Enhancers	Primary B cells from cord blood	blood
12	chr12:40587200-40589400	Weak transcription	HUVEC	blood vessel
13	chr12:40587200-40590400	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:40587400-40588000	Enhancers	GM12878-XiMat	blood

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