Variant report

Variant	rs12550790
Chromosome Location	chr8:110659239-110659240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110653568..110656505-chr8:110658430..110660040,2	MCF-7	breast:
2	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
3	chr8:110563214..110565678-chr8:110658219..110659984,2	K562	blood:
4	chr8:110654758..110657420-chr8:110658925..110660931,2	K562	blood:
5	chr8:110356323..110358473-chr8:110658586..110660962,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2022929	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7818856	1.00[YRI][hapmap]

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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12550790	ZFPM2	cis	parietal	SCAN
rs12550790	PKHD1L1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
3	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
4	chr8:110658000-110659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:110658000-110659400	Weak transcription	NHEK	skin
6	chr8:110658000-110659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:110658000-110659600	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:110658000-110660200	Enhancers	Fetal Brain Male	brain
9	chr8:110658200-110659400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:110658200-110659600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:110658200-110660000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:110658200-110660000	Weak transcription	Esophagus	oesophagus
13	chr8:110658200-110660400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr8:110658400-110659400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:110658400-110660000	Enhancers	HepG2	liver
16	chr8:110658400-110661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:110658600-110659400	Weak transcription	Fetal Brain Female	brain
18	chr8:110658600-110661200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:110658800-110659400	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:110659000-110661200	Active TSS	Brain Anterior Caudate	brain
21	chr8:110659200-110659600	Active TSS	Duodenum Mucosa	Duodenum
22	chr8:110659200-110659600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:110659200-110659600	Enhancers	K562	blood
24	chr8:110659200-110659800	Active TSS	Brain Cingulate Gyrus	brain

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