Variant report

Variant	rs1106701
Chromosome Location	chr18:8189364-8189365
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	chr18:8183143..8185001-chr18:8186709..8189707,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10513900	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11663439	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11874230	0.85[AMR][1000 genomes]
rs11875152	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs12954922	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12963432	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2098264	0.86[ASW][hapmap];0.95[CEU][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2192194	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2286934	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[AMR][1000 genomes]
rs4798615	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs6506555	0.82[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6506557	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7228465	0.82[CHB][hapmap];0.84[CHD][hapmap];0.89[LWK][hapmap];0.83[YRI][hapmap]
rs7241083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8092461	0.84[AFR][1000 genomes]
rs9949326	0.86[AFR][1000 genomes]
rs9958544	0.82[CHB][hapmap]

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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv909360	chr18:8167050-8207445	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1106701	PTPRM	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8175000-8195000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:8177800-8192800	Weak transcription	Fetal Heart	heart
4	chr18:8178000-8190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:8178000-8191200	Weak transcription	Gastric	stomach
6	chr18:8178000-8192400	Weak transcription	A549	lung
7	chr18:8178000-8193600	Weak transcription	Ovary	ovary
8	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
10	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:8178200-8191000	Weak transcription	Psoas Muscle	Psoas
12	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
15	chr18:8179000-8196200	Weak transcription	Primary T cells from cord blood	blood
16	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8181600-8189800	Weak transcription	Lung	lung
18	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:8185800-8189600	Weak transcription	Esophagus	oesophagus
21	chr18:8186800-8198600	Weak transcription	Right Atrium	heart
22	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8187600-8191000	Weak transcription	Left Ventricle	heart
24	chr18:8188600-8191000	Weak transcription	Pancreas	Pancrea
25	chr18:8188600-8192800	Weak transcription	Stomach Smooth Muscle	stomach

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