Variant report

Variant	rs62088862
Chromosome Location	chr18:9579805-9579806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9577244..9580030-chr18:9613761..9615940,2	K562	blood:
2	chr18:9579114..9582159-chr18:9598940..9602426,3	K562	blood:
3	chr18:9577107..9580030-chr18:9614020..9615940,2	K562	blood:
4	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:
5	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	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]
rs62088863	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
rs62088862	RALBP1	cis	Whole Blood	GTEx
rs62088862	RP11-692N5.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 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	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
4	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
10	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
14	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
16	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:9566800-9594600	Strong transcription	HSMM	muscle
20	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:9570600-9580600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:9570600-9580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:9570600-9580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:9570600-9580800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:9570600-9580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:9572000-9580800	Weak transcription	GM12878-XiMat	blood
29	chr18:9572200-9580600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr18:9572200-9580600	Weak transcription	Brain Anterior Caudate	brain
31	chr18:9572200-9580600	Weak transcription	Esophagus	oesophagus
32	chr18:9572200-9581600	Weak transcription	Fetal Brain Male	brain
33	chr18:9572200-9587400	Weak transcription	Ovary	ovary
34	chr18:9572400-9580400	Weak transcription	Primary T cells from cord blood	blood
35	chr18:9572600-9580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:9572800-9580400	Weak transcription	Thymus	Thymus
37	chr18:9574600-9581800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:9575000-9580600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:9575800-9580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr18:9575800-9592800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:9576000-9581600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:9576000-9594400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr18:9576200-9580000	Weak transcription	Hela-S3	cervix
44	chr18:9576200-9580400	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:9576200-9580400	Weak transcription	Fetal Stomach	stomach
46	chr18:9576200-9580600	Weak transcription	Brain Angular Gyrus	brain
47	chr18:9576200-9580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr18:9576200-9580600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:9576200-9580600	Weak transcription	HSMMtube	muscle
50	chr18:9576200-9581200	Strong transcription	Muscle Satellite Cultured Cells	--

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