Variant report

Variant	rs7233195
Chromosome Location	chr18:8006997-8006998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10502366	0.84[JPT][hapmap]
rs10513901	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10775439	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11081350	0.84[JPT][hapmap]
rs11081352	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs11081357	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470323	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs17567141	0.84[JPT][hapmap]
rs1942951	0.92[CEU][hapmap];0.85[ASN][1000 genomes]
rs34622689	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3786153	0.82[YRI][hapmap]
rs4602134	0.89[JPT][hapmap]
rs4798607	0.84[YRI][hapmap]
rs486607	0.84[ASW][hapmap]
rs493221	0.84[ASW][hapmap]
rs5000485	0.92[ASW][hapmap]
rs506248	0.92[ASW][hapmap]
rs511993	0.92[ASW][hapmap]
rs552448	0.92[ASW][hapmap]
rs567523	0.92[ASW][hapmap]
rs618104	0.92[ASW][hapmap]
rs649598	0.92[ASW][hapmap]
rs6506542	0.84[ASW][hapmap];0.81[YRI][hapmap]
rs7234055	0.84[YRI][hapmap]
rs7351012	0.84[JPT][hapmap]
rs8082776	0.84[ASW][hapmap];0.81[YRI][hapmap]
rs8089387	0.92[ASW][hapmap]
rs948779	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9807298	0.85[YRI][hapmap]
rs9807748	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7233195	MPPE1	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:8004200-8007600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
7	chr18:8004200-8029000	Weak transcription	Gastric	stomach
8	chr18:8004400-8016200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:8004600-8020200	Weak transcription	Fetal Lung	lung
10	chr18:8004800-8010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:8004800-8016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:8004800-8016800	Weak transcription	Aorta	Aorta
13	chr18:8004800-8020200	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8005000-8020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:8005200-8007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:8005800-8009000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8005800-8009200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:8006000-8007000	Enhancers	Fetal Kidney	kidney
19	chr18:8006200-8007200	Enhancers	Psoas Muscle	Psoas
20	chr18:8006200-8007400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:8006200-8012400	Weak transcription	Right Atrium	heart
22	chr18:8006400-8007000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:8006400-8007200	Enhancers	A549	lung
24	chr18:8006600-8007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:8006600-8007600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:8006600-8007600	Weak transcription	Brain Germinal Matrix	brain
27	chr18:8006600-8008000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:8006600-8022200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:8006800-8007200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:8006800-8007200	Enhancers	Liver	Liver
31	chr18:8006800-8007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:8006800-8008000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:8006800-8008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:8006800-8008800	Weak transcription	Left Ventricle	heart
35	chr18:8006800-8017800	Weak transcription	Right Ventricle	heart
36	chr18:8006800-8020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:8006800-8029200	Weak transcription	Lung	lung

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