Variant report

Variant	rs62087408
Chromosome Location	chr18:9534113-9534114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9528385..9531044-chr18:9532434..9534202,2	K562	blood:
2	chr18:9532714..9534536-chr18:9538014..9540366,2	K562	blood:
3	chr18:9532714..9535374-chr18:9538011..9541723,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16955192	0.94[EUR][1000 genomes]
rs28778582	0.99[EUR][1000 genomes]
rs3322	0.94[EUR][1000 genomes]
rs62086079	0.82[EUR][1000 genomes]
rs62086098	0.82[EUR][1000 genomes]
rs62086099	0.82[EUR][1000 genomes]
rs62086100	0.82[EUR][1000 genomes]
rs62086101	0.82[EUR][1000 genomes]
rs62086104	0.82[EUR][1000 genomes]
rs62086106	0.82[EUR][1000 genomes]
rs62086107	0.82[EUR][1000 genomes]
rs62086109	0.82[EUR][1000 genomes]
rs62086112	0.85[EUR][1000 genomes]
rs62086113	0.83[EUR][1000 genomes]
rs62086116	0.87[EUR][1000 genomes]
rs62086122	0.94[EUR][1000 genomes]
rs62086123	0.94[EUR][1000 genomes]
rs62086125	0.97[EUR][1000 genomes]
rs62086126	0.97[EUR][1000 genomes]
rs62086148	1.00[EUR][1000 genomes]
rs62086149	1.00[EUR][1000 genomes]
rs62086150	1.00[EUR][1000 genomes]
rs62086153	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62086157	1.00[EUR][1000 genomes]
rs62087360	0.99[EUR][1000 genomes]
rs62087361	1.00[EUR][1000 genomes]
rs62087362	1.00[EUR][1000 genomes]
rs62087366	1.00[EUR][1000 genomes]
rs62087369	1.00[EUR][1000 genomes]
rs62087373	0.97[EUR][1000 genomes]
rs62087374	1.00[EUR][1000 genomes]
rs62087376	1.00[EUR][1000 genomes]
rs62087379	1.00[EUR][1000 genomes]
rs62087397	1.00[EUR][1000 genomes]
rs62087409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087410	0.94[EUR][1000 genomes]
rs62087413	0.92[EUR][1000 genomes]
rs7227801	0.94[EUR][1000 genomes]
rs9949213	0.99[EUR][1000 genomes]
rs9952325	0.99[EUR][1000 genomes]
rs9955578	0.99[EUR][1000 genomes]
rs9957720	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62087408	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	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
2	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
3	chr18:9518800-9534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:9520400-9534800	Weak transcription	Psoas Muscle	Psoas
5	chr18:9521400-9535000	Strong transcription	Fetal Muscle Leg	muscle
6	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
7	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
8	chr18:9521800-9534800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr18:9521800-9540400	Strong transcription	Dnd41	blood
10	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:9522000-9534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:9522200-9536200	Strong transcription	HSMM	muscle
15	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:9522400-9534800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
20	chr18:9523400-9535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
22	chr18:9526400-9534600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:9526400-9535400	Strong transcription	Adipose Nuclei	Adipose
24	chr18:9526600-9535000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:9527000-9535800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
30	chr18:9528600-9535600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr18:9528800-9535000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:9529200-9535000	Weak transcription	A549	lung
34	chr18:9529600-9539000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:9529800-9538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
38	chr18:9530000-9534800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:9530000-9535600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:9530000-9536600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:9530000-9536800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:9530000-9536800	Strong transcription	K562	blood
43	chr18:9530000-9538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:9530000-9538400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:9530000-9538800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr18:9530200-9534800	Strong transcription	Rectal Smooth Muscle	rectum
48	chr18:9530200-9538200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr18:9530200-9539000	Strong transcription	Left Ventricle	heart
50	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung

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