Variant report

Variant	rs28709298
Chromosome Location	chr18:8049123-8049124
allele	C/T
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	FOS	chr18:8049090-8049499	HUVEC	blood vessel:	n/a	chr18:8049383-8049392 chr18:8049315-8049323 chr18:8049381-8049392

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8046800..8049219-chr18:8053263..8054942,2	K562	blood:

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12103962	1.00[AFR][1000 genomes]
rs28367342	1.00[AFR][1000 genomes]
rs28379285	0.92[AFR][1000 genomes]
rs28478486	0.82[AFR][1000 genomes]
rs28511885	0.88[AFR][1000 genomes]
rs28521877	1.00[AFR][1000 genomes]
rs28526245	1.00[AFR][1000 genomes]
rs28557220	0.94[AFR][1000 genomes]
rs28569201	1.00[AFR][1000 genomes]
rs28611270	0.94[AFR][1000 genomes]
rs73385648	1.00[AFR][1000 genomes]
rs73385649	1.00[AFR][1000 genomes]
rs73385658	1.00[AFR][1000 genomes]
rs73385659	1.00[AFR][1000 genomes]
rs9948263	1.00[AFR][1000 genomes]
rs9950590	1.00[AFR][1000 genomes]
rs9951610	0.91[AFR][1000 genomes]
rs9952873	1.00[AFR][1000 genomes]
rs9952921	0.82[AFR][1000 genomes]
rs9953560	0.82[AFR][1000 genomes]
rs9963151	0.88[AFR][1000 genomes]
rs9963467	1.00[AFR][1000 genomes]
rs9965217	0.82[AFR][1000 genomes]
rs9966934	1.00[AFR][1000 genomes]

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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8021200-8052000	Weak transcription	Psoas Muscle	Psoas
2	chr18:8030000-8056400	Weak transcription	Pancreas	Pancrea
3	chr18:8042800-8050200	Weak transcription	Gastric	stomach
4	chr18:8043000-8049800	Weak transcription	Lung	lung
5	chr18:8043200-8052000	Weak transcription	Right Atrium	heart
6	chr18:8043400-8050800	Weak transcription	Right Ventricle	heart
7	chr18:8043400-8052000	Weak transcription	Ovary	ovary
8	chr18:8044600-8049800	Weak transcription	Left Ventricle	heart
9	chr18:8044600-8052200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:8045800-8050800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr18:8045800-8051200	Weak transcription	Osteobl	bone
12	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:8046600-8049200	Weak transcription	NH-A	brain
14	chr18:8046600-8050600	Weak transcription	Primary T cells from cord blood	blood
15	chr18:8046600-8050800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr18:8046800-8050200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:8048000-8049200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:8048000-8049400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:8048000-8049400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:8048200-8050800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:8048200-8054200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:8048400-8049200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:8048600-8049600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:8048600-8051200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:8048800-8049600	Enhancers	Hela-S3	cervix
27	chr18:8048800-8049800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:8048800-8051000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:8048800-8051200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:8049000-8049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:8049000-8049600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:8049000-8049600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr18:8049000-8049600	Enhancers	Brain Substantia Nigra	brain
34	chr18:8049000-8049600	Flanking Active TSS	A549	lung
35	chr18:8049000-8051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:8049000-8051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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