Variant report

Variant	rs62086122
Chromosome Location	chr18:9484280-9484281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9483035..9485149-chr18:9487383..9490221,2	K562	blood:
2	chr18:9474434..9478546-chr18:9481264..9484855,5	MCF-7	breast:
3	chr18:9483649..9485920-chr18:9485959..9488883,2	K562	blood:
4	chr18:9483756..9486081-chr18:9493514..9495477,2	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs16955192	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28778582	0.93[EUR][1000 genomes]
rs3322	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086078	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086079	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62086098	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086099	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086100	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086101	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086104	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086106	0.87[EUR][1000 genomes]
rs62086107	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086109	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62086112	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62086113	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086116	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62086123	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086125	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086126	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62086148	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086149	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086150	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086153	0.94[EUR][1000 genomes]
rs62086157	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087360	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62087361	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087362	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087366	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087369	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087373	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087374	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087376	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087379	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087397	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087408	0.94[EUR][1000 genomes]
rs62087409	0.94[EUR][1000 genomes]
rs62087410	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62087413	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7227801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9949213	0.93[EUR][1000 genomes]
rs9952325	0.93[EUR][1000 genomes]
rs9955578	0.93[EUR][1000 genomes]
rs9957720	0.93[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	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	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
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62086122	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476800-9494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
3	chr18:9477000-9485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:9477000-9486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr18:9477000-9489800	Weak transcription	HUVEC	blood vessel
6	chr18:9477000-9514000	Weak transcription	NH-A	brain
7	chr18:9477200-9513800	Weak transcription	HSMM	muscle
8	chr18:9477400-9485000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr18:9477400-9492400	Weak transcription	A549	lung
10	chr18:9477400-9493600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:9477600-9484600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:9477600-9485000	Weak transcription	Liver	Liver
13	chr18:9477600-9485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:9477600-9488000	Weak transcription	HepG2	liver
15	chr18:9477600-9491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr18:9477800-9488600	Weak transcription	Fetal Lung	lung
18	chr18:9477800-9494800	Weak transcription	HMEC	breast
19	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
20	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:9478000-9484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:9478000-9485000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
26	chr18:9479000-9485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:9479000-9494000	Weak transcription	Spleen	Spleen
28	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
32	chr18:9479000-9533600	Weak transcription	Gastric	stomach
33	chr18:9479200-9492000	Weak transcription	NHEK	skin
34	chr18:9479400-9487000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:9479400-9494000	Weak transcription	Ovary	ovary
36	chr18:9479400-9494600	Weak transcription	Thymus	Thymus
37	chr18:9479600-9484800	Weak transcription	Fetal Brain Female	brain
38	chr18:9479600-9485400	Weak transcription	Fetal Thymus	thymus
39	chr18:9479600-9487400	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:9480200-9490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:9480600-9487000	Weak transcription	Fetal Intestine Small	intestine
43	chr18:9480800-9485000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr18:9481400-9494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:9481600-9494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:9481800-9485400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr18:9482800-9492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:9482800-9495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:9483000-9484800	Weak transcription	K562	blood
50	chr18:9483000-9485000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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