Variant report

Variant	rs8099174
Chromosome Location	chr18:8119769-8119770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr18:8119715-8120459	SK-N-SH	brain:	n/a	chr18:8120431-8120441 chr18:8120359-8120373 chr18:8120274-8120288

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8119022..8121580-chr18:21303678..21305732,2	K562	blood:

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952894	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952902	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17397183	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397841	0.89[CEU][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17475401	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942956	0.89[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4456614	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534675	0.92[ASN][1000 genomes]
rs538985	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550672	0.89[CEU][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565798	0.89[CHB][hapmap]
rs641156	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs644183	0.89[CHB][hapmap]
rs6506549	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs663105	0.89[CHB][hapmap]
rs7236194	0.86[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241382	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387768	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8082936	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8083862	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8095101	0.89[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099028	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
3	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
4	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8103400-8123800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:8103600-8122200	Weak transcription	Aorta	Aorta
7	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
10	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:8110000-8123000	Weak transcription	Fetal Intestine Small	intestine
12	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
14	chr18:8113600-8125000	Weak transcription	Gastric	stomach
15	chr18:8117200-8121400	Weak transcription	NH-A	brain
16	chr18:8117200-8121800	Weak transcription	HSMM	muscle
17	chr18:8117200-8121800	Weak transcription	NHEK	skin
18	chr18:8117200-8122000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:8117200-8122000	Weak transcription	Adipose Nuclei	Adipose
20	chr18:8117200-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:8117200-8132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8117400-8120800	Weak transcription	NHDF-Ad	bronchial
24	chr18:8117400-8121400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8117400-8121400	Weak transcription	Osteobl	bone
26	chr18:8117400-8121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:8117400-8122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:8117400-8124600	Weak transcription	HepG2	liver
29	chr18:8117400-8153200	Weak transcription	Liver	Liver
30	chr18:8117600-8124800	Weak transcription	Right Atrium	heart
31	chr18:8117800-8120800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:8117800-8121400	Weak transcription	HMEC	breast
33	chr18:8117800-8122000	Weak transcription	NHLF	lung
34	chr18:8118000-8120800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8118000-8121000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr18:8118000-8121000	Weak transcription	A549	lung
37	chr18:8118600-8120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:8118800-8122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:8119000-8119800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:8119200-8138200	Weak transcription	Ovary	ovary

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