Variant report

Variant	rs7231567
Chromosome Location	chr18:9539544-9539545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9532714..9535374-chr18:9538011..9541723,5	K562	blood:
2	chr1:43464090..43465590-chr18:9537274..9539847,2	K562	blood:
3	chr18:9538024..9540085-chr18:9542632..9545257,2	K562	blood:
4	chr18:9532714..9534536-chr18:9538014..9540366,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16955185	1.00[AMR][1000 genomes]
rs16955201	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395762	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395765	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73939867	1.00[AFR][1000 genomes];1.00[AMR][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
rs7231567	RALBP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
2	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
3	chr18:9521800-9540400	Strong transcription	Dnd41	blood
4	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
7	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
8	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
12	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
15	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung
17	chr18:9530200-9540800	Strong transcription	Thymus	Thymus
18	chr18:9530600-9541200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:9530800-9540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:9530800-9540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9530800-9541000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:9531200-9540400	Strong transcription	Primary B cells from cord blood	blood
23	chr18:9531400-9540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:9531600-9540600	Strong transcription	Liver	Liver
25	chr18:9531600-9540600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:9531600-9540800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:9532200-9541800	Strong transcription	Fetal Intestine Small	intestine
28	chr18:9532200-9547600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:9532800-9541000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr18:9533400-9540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr18:9533400-9540800	Strong transcription	Spleen	Spleen
32	chr18:9533600-9539800	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr18:9533600-9540000	Strong transcription	Gastric	stomach
34	chr18:9533600-9540200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:9533600-9540800	Strong transcription	Esophagus	oesophagus
36	chr18:9533800-9540200	Strong transcription	Fetal Brain Female	brain
37	chr18:9534200-9545800	Weak transcription	Hela-S3	cervix
38	chr18:9534600-9546400	Weak transcription	Aorta	Aorta
39	chr18:9534800-9546600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr18:9534800-9547200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr18:9535200-9547400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:9535800-9540800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr18:9535800-9544800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:9535800-9546000	Weak transcription	A549	lung
46	chr18:9535800-9547200	Weak transcription	Fetal Heart	heart
47	chr18:9536000-9540400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:9536000-9540800	Strong transcription	Adipose Nuclei	Adipose
49	chr18:9536000-9541600	Strong transcription	Placenta	Placenta
50	chr18:9536000-9546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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