Variant report

Variant	rs62088863
Chromosome Location	chr18:9582080-9582081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9579114..9582159-chr18:9598940..9602426,3	K562	blood:
2	chr18:9580227..9582159-chr18:9599784..9602426,2	K562	blood:
3	chr18:9570616..9572837-chr18:9581502..9583997,2	K562	blood:
4	chr18:9581775..9584005-chr18:9596096..9598190,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs61746389	0.82[EUR][1000 genomes]
rs61749090	0.82[EUR][1000 genomes]
rs61749091	0.82[EUR][1000 genomes]
rs62087423	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62087424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088866	0.98[EUR][1000 genomes]
rs62088867	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62088869	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62088874	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088882	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62088909	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62088915	0.82[EUR][1000 genomes]
rs62088918	0.82[EUR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62088863	RP11-692N5.1	cis	Esophagus Mucosa	GTEx
rs62088863	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
6	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9566800-9594600	Strong transcription	HSMM	muscle
12	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:9572200-9587400	Weak transcription	Ovary	ovary
16	chr18:9575800-9592800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:9576000-9594400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr18:9576200-9584800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:9576200-9586800	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:9576200-9587600	Weak transcription	Brain Substantia Nigra	brain
21	chr18:9576200-9589000	Strong transcription	NHDF-Ad	bronchial
22	chr18:9576200-9594000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr18:9576600-9584600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr18:9576800-9584400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:9577200-9583200	Strong transcription	Fetal Lung	lung
27	chr18:9577200-9583600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:9577200-9585400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr18:9577600-9594400	Weak transcription	Stomach Mucosa	stomach
30	chr18:9577800-9584800	Strong transcription	K562	blood
31	chr18:9578200-9583400	Strong transcription	Fetal Thymus	thymus
32	chr18:9578200-9589200	Strong transcription	Primary B cells from cord blood	blood
33	chr18:9578400-9587800	Weak transcription	Gastric	stomach
34	chr18:9578400-9595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:9578600-9590800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:9578800-9585000	Strong transcription	Placenta	Placenta
37	chr18:9578800-9594800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr18:9579000-9584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:9579000-9585800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:9579000-9592600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr18:9579000-9593800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:9579400-9583400	Strong transcription	Adipose Nuclei	Adipose
43	chr18:9579400-9583400	Strong transcription	Fetal Kidney	kidney
44	chr18:9579400-9583600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr18:9579400-9583600	Strong transcription	Fetal Intestine Large	intestine
46	chr18:9579400-9584800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:9579400-9584800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:9579600-9583000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr18:9579600-9583800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr18:9579600-9583800	Strong transcription	Fetal Muscle Leg	muscle

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