Variant report

Variant	rs12375820
Chromosome Location	chr9:71122667-71122668
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:
2	chr9:71122335..71122837-chr9:71174540..71175279,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10780985	0.82[EUR][1000 genomes]
rs10780986	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10781002	0.81[JPT][hapmap]
rs10868961	0.88[ASN][1000 genomes]
rs10869001	0.81[JPT][hapmap]
rs11142697	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11788769	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2131355	0.82[ASW][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs265073	0.88[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs265083	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs265087	0.81[JPT][hapmap]
rs7034863	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7854357	0.82[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12375820	PGM5	cis	Whole Blood	GTEx
rs12375820	RP11-274B18.2	cis	Whole Blood	GTEx

Chromatin state (count:34 , 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	chr9:71121000-71122800	Weak transcription	Left Ventricle	heart
12	chr9:71121000-71124000	Enhancers	Fetal Kidney	kidney
13	chr9:71121000-71124400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:71121000-71129000	Weak transcription	Psoas Muscle	Psoas
15	chr9:71121000-71129600	Weak transcription	Fetal Intestine Large	intestine
16	chr9:71121200-71122800	Weak transcription	Right Atrium	heart
17	chr9:71121200-71123000	Weak transcription	HepG2	liver
18	chr9:71121200-71123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:71121200-71128400	Weak transcription	Right Ventricle	heart
20	chr9:71121200-71129800	Weak transcription	Fetal Intestine Small	intestine
21	chr9:71121400-71123000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:71121600-71123000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:71121800-71124800	Enhancers	Colon Smooth Muscle	Colon
24	chr9:71122000-71123200	Enhancers	HSMMtube	muscle
25	chr9:71122200-71122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:71122200-71123600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:71122200-71133200	Weak transcription	Ovary	ovary
28	chr9:71122400-71132000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:71122600-71122800	Flanking Active TSS	Fetal Lung	lung
30	chr9:71122600-71123200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr9:71122600-71123600	Enhancers	Fetal Stomach	stomach
32	chr9:71122600-71124000	Enhancers	Stomach Mucosa	stomach
33	chr9:71122600-71124600	Enhancers	K562	blood
34	chr9:71122600-71132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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