Variant report

Variant	rs6560175
Chromosome Location	chr9:71122983-71122984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71121474..71124177-chr9:71138175..71140429,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10780985	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964619	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309312	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs265081	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372581	1.00[JPT][hapmap]
rs424970	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406476	1.00[JPT][hapmap]
rs4744621	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320925	0.89[EUR][1000 genomes]
rs72716013	0.85[EUR][1000 genomes]
rs7849742	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7854357	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864227	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902949	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427847	chr9:70318730-71153527	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6560175	RP11-274B18.2	cis	Whole Blood	GTEx
rs6560175	PGM5	cis	multi-tissue	Pritchard
rs6560175	PGM5	cis	Whole Blood	GTEx
rs6560175	PGM5	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71116200-71124000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:71117000-71129600	Weak transcription	NHLF	lung
3	chr9:71117600-71123600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:71117600-71142800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:71120200-71123000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:71120200-71124600	Enhancers	Rectal Smooth Muscle	rectum
7	chr9:71120400-71123000	Enhancers	Fetal Heart	heart
8	chr9:71120600-71123600	Enhancers	Stomach Smooth Muscle	stomach
9	chr9:71120600-71124200	Enhancers	Liver	Liver
10	chr9:71120800-71130200	Weak transcription	Aorta	Aorta
11	chr9:71121000-71124000	Enhancers	Fetal Kidney	kidney
12	chr9:71121000-71124400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:71121000-71129000	Weak transcription	Psoas Muscle	Psoas
14	chr9:71121000-71129600	Weak transcription	Fetal Intestine Large	intestine
15	chr9:71121200-71123000	Weak transcription	HepG2	liver
16	chr9:71121200-71123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:71121200-71128400	Weak transcription	Right Ventricle	heart
18	chr9:71121200-71129800	Weak transcription	Fetal Intestine Small	intestine
19	chr9:71121400-71123000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:71121600-71123000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr9:71121800-71124800	Enhancers	Colon Smooth Muscle	Colon
22	chr9:71122000-71123200	Enhancers	HSMMtube	muscle
23	chr9:71122200-71123600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:71122200-71133200	Weak transcription	Ovary	ovary
25	chr9:71122400-71132000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:71122600-71123200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:71122600-71123600	Enhancers	Fetal Stomach	stomach
28	chr9:71122600-71124000	Enhancers	Stomach Mucosa	stomach
29	chr9:71122600-71124600	Enhancers	K562	blood
30	chr9:71122600-71132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:71122800-71123000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:71122800-71123200	Enhancers	Placenta	Placenta
33	chr9:71122800-71123200	Strong transcription	Left Ventricle	heart
34	chr9:71122800-71124200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:71122800-71124200	Enhancers	Right Atrium	heart
36	chr9:71122800-71124400	Enhancers	Fetal Lung	lung

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