Variant report

Variant	rs7124943
Chromosome Location	chr11:64159945-64159946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64146240..64148352-chr11:64158403..64160788,2	K562	blood:
2	chr11:64153349..64156016-chr11:64157804..64160617,2	K562	blood:
3	chr11:64126652..64130402-chr11:64156162..64161731,4	K562	blood:
4	chr11:64125866..64130028-chr11:64157063..64161519,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10792433	0.80[AMR][1000 genomes]
rs10897490	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10897494	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10897495	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11231781	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11231782	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1198935	0.80[AMR][1000 genomes]
rs2840342	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34104296	0.80[AMR][1000 genomes]
rs682848	0.80[AMR][1000 genomes]
rs692813	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs692842	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7130280	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750831	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936395	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7936860	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936992	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7949862	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7124943	RPS6KA4	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64150600-64163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64153800-64163200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:64154000-64167600	Weak transcription	Right Atrium	heart
6	chr11:64156000-64161600	Weak transcription	Fetal Thymus	thymus
7	chr11:64157400-64161600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:64158200-64160000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:64158400-64162200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:64158800-64160600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr11:64159000-64160400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:64159200-64160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:64159200-64163200	Weak transcription	Primary B cells from cord blood	blood
14	chr11:64159400-64161600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:64159400-64162600	Weak transcription	Adipose Nuclei	Adipose
16	chr11:64159400-64163000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:64159400-64163200	Weak transcription	Right Ventricle	heart
18	chr11:64159600-64161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:64159600-64162000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:64159600-64162000	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:64159600-64163000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:64159600-64163200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:64159600-64163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:64159600-64163200	Weak transcription	Spleen	Spleen

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