Variant report

Variant	rs73384370
Chromosome Location	chr6:27089045-27089046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26027124..26029972-chr6:27089042..27090652,2	K562	blood:
2	chr6:27058371..27061337-chr6:27088383..27090368,3	K562	blood:
3	chr6:26594405..26597151-chr6:27087903..27090496,2	K562	blood:

Variant related genes	Relation type
ENSG00000124529	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11967487	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11968996	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11969113	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12661273	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12663161	0.88[ASN][1000 genomes]
rs12664426	0.85[EUR][1000 genomes]
rs12665480	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16894368	0.93[AFR][1000 genomes]
rs56824660	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57493110	0.90[AFR][1000 genomes]
rs58678580	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6919033	0.93[AFR][1000 genomes]
rs6921711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73384380	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73384391	0.87[AFR][1000 genomes]
rs73386672	0.90[AFR][1000 genomes]
rs73399191	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73399199	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73401122	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73401133	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73401144	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7741445	0.88[ASN][1000 genomes]
rs7765489	0.84[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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs73384370	RP11-457M11.5	cis	Whole Blood	GTEx
rs73384370	RP11-457M11.5	cis	Thyroid	GTEx
rs73384370	RP11-457M11.5	cis	Nerve Tibial	GTEx
rs73384370	RP11-457M11.5	cis	lung	GTEx
rs73384370	RP11-457M11.5	cis	Muscle Skeletal	GTEx
rs73384370	RP11-457M11.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73384370	RP11-457M11.5	cis	Esophagus Mucosa	GTEx
rs73384370	RP11-457M11.5	cis	Stomach	GTEx
rs73384370	GUSBP2	cis	lung	GTEx
rs73384370	RP11-457M11.5	cis	Artery Tibial	GTEx
rs73384370	RP11-457M11.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27080800-27094400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:27081200-27094600	Weak transcription	Psoas Muscle	Psoas
3	chr6:27083000-27094400	Weak transcription	Hela-S3	cervix
4	chr6:27085800-27094400	Weak transcription	Fetal Heart	heart
5	chr6:27086200-27094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:27086200-27094400	Weak transcription	Left Ventricle	heart
7	chr6:27086400-27099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:27087000-27094400	Weak transcription	A549	lung
9	chr6:27087200-27090200	Strong transcription	K562	blood
10	chr6:27087200-27094000	Weak transcription	Fetal Thymus	thymus
11	chr6:27087600-27094400	Weak transcription	Fetal Lung	lung
12	chr6:27087800-27094400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:27088200-27094400	Weak transcription	Thymus	Thymus
14	chr6:27088400-27089200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:27088400-27089200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:27088400-27089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:27088400-27089400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:27088400-27089400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:27088600-27089200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:27088600-27089200	Enhancers	GM12878-XiMat	blood
21	chr6:27088600-27089400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:27088800-27089200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:27088800-27089200	Enhancers	NHEK	skin
24	chr6:27088800-27090400	Weak transcription	Placenta	Placenta
25	chr6:27088800-27094200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:27088800-27094400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:27089000-27089200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr6:27089000-27089200	Enhancers	Dnd41	blood
29	chr6:27089000-27089400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:27089000-27094400	Weak transcription	Primary T cells from cord blood	blood
31	chr6:27089000-27094600	Weak transcription	Fetal Intestine Small	intestine

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