Variant report

Variant	rs1440995
Chromosome Location	chr18:7818289-7818290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10502362	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11081345	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1117814	0.81[EUR][1000 genomes]
rs12457653	0.96[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12965898	1.00[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs1348104	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1348407	0.84[CEU][hapmap]
rs1440999	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1441000	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1441001	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1443607	0.85[CEU][hapmap]
rs1443609	0.85[CEU][hapmap]
rs1443610	0.85[CEU][hapmap]
rs1443611	0.82[CEU][hapmap]
rs1443613	0.81[CEU][hapmap]
rs1443614	0.84[CEU][hapmap];0.87[GIH][hapmap]
rs1443616	0.89[CEU][hapmap];0.88[GIH][hapmap]
rs1530389	0.85[CEU][hapmap]
rs1822456	0.81[EUR][1000 genomes]
rs2009770	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2099790	0.85[CEU][hapmap]
rs2197010	0.81[EUR][1000 genomes]
rs2377575	0.81[EUR][1000 genomes]
rs2377576	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs331414	0.88[EUR][1000 genomes]
rs331415	0.89[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs331418	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs331419	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs331425	0.85[CEU][hapmap]
rs331426	0.85[CEU][hapmap]
rs34294315	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36188935	0.81[EUR][1000 genomes]
rs364418	0.81[CEU][hapmap]
rs4797302	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4798598	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798599	0.81[EUR][1000 genomes]
rs4798600	0.88[EUR][1000 genomes]
rs4798601	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4798602	0.88[EUR][1000 genomes]
rs4798603	0.88[EUR][1000 genomes]
rs631574	0.81[CEU][hapmap]
rs6506535	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6506536	0.89[CEU][hapmap]
rs6506538	0.85[CEU][hapmap]
rs653973	0.84[TSI][hapmap]
rs671369	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs694096	0.85[CEU][hapmap]
rs7227367	0.88[EUR][1000 genomes]
rs7228457	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7232793	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7233704	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7235300	0.96[CEU][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs7239136	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7243673	0.96[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs727949	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs727951	0.89[CEU][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs8083298	0.81[EUR][1000 genomes]
rs8089088	0.81[EUR][1000 genomes]
rs8095400	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8095467	0.88[EUR][1000 genomes]
rs8098502	0.84[EUR][1000 genomes]
rs9944547	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1440995	PTPRM	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7810200-7822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:7810200-7824200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:7813200-7822600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:7814600-7821400	Weak transcription	Fetal Heart	heart
5	chr18:7815400-7819400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:7815400-7820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:7815400-7820600	Weak transcription	Psoas Muscle	Psoas
8	chr18:7815400-7821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:7815400-7822600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:7815400-7843800	Weak transcription	A549	lung
11	chr18:7815600-7821600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr18:7815600-7822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:7815600-7824800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:7815600-7826400	Weak transcription	HepG2	liver
15	chr18:7815800-7819200	Weak transcription	Fetal Stomach	stomach
16	chr18:7816000-7819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:7816000-7822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:7816400-7822400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:7817000-7818600	Enhancers	Left Ventricle	heart
20	chr18:7817200-7818400	Enhancers	Colon Smooth Muscle	Colon
21	chr18:7817200-7818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:7817200-7822800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:7817400-7818600	Enhancers	Fetal Intestine Large	intestine
24	chr18:7817800-7818600	Enhancers	Spleen	Spleen
25	chr18:7818000-7818400	Weak transcription	Right Ventricle	heart
26	chr18:7818000-7818400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr18:7818000-7820600	Weak transcription	Fetal Thymus	thymus
28	chr18:7818000-7820600	Weak transcription	Lung	lung
29	chr18:7818000-7821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:7818200-7818400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:7818200-7820200	Weak transcription	Right Atrium	heart
32	chr18:7818200-7820600	Weak transcription	Adipose Nuclei	Adipose
33	chr18:7818200-7820800	Weak transcription	Fetal Intestine Small	intestine
34	chr18:7818200-7821200	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:7818200-7822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:7818200-7822400	Weak transcription	Fetal Lung	lung
37	chr18:7818200-7822800	Weak transcription	Ovary	ovary
38	chr18:7818200-7839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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