Variant report

Variant	rs62088874
Chromosome Location	chr18:9597055-9597056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
2	chr18:9581775..9584005-chr18:9596096..9598190,2	K562	blood:
3	chr18:9595087..9597869-chr18:9607007..9610720,3	MCF-7	breast:
4	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
5	chr18:9593612..9595267-chr18:9595493..9597647,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs61746389	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61749090	0.81[EUR][1000 genomes]
rs61749091	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62080294	0.85[AMR][1000 genomes]
rs62080298	0.85[AMR][1000 genomes]
rs62080299	0.85[AMR][1000 genomes]
rs62087424	0.92[EUR][1000 genomes]
rs62087455	0.92[EUR][1000 genomes]
rs62087457	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62087458	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088862	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088863	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088865	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62088866	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62088867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62088869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62088882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62088909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62088910	0.95[AMR][1000 genomes]
rs62088915	0.81[EUR][1000 genomes]
rs62088917	0.95[AMR][1000 genomes]
rs62088918	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62088874	RALBP1	cis	Whole Blood	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
5	chr18:9582800-9597600	Weak transcription	Fetal Brain Male	brain
6	chr18:9585000-9597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9589000-9597200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:9589000-9597200	Weak transcription	Ovary	ovary
10	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
11	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:9589000-9611000	Weak transcription	Lung	lung
13	chr18:9589200-9598200	Weak transcription	Primary B cells from cord blood	blood
14	chr18:9589200-9599200	Weak transcription	Fetal Kidney	kidney
15	chr18:9590800-9597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr18:9592000-9597400	Weak transcription	Fetal Brain Female	brain
17	chr18:9592400-9599400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr18:9592600-9599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:9593000-9598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr18:9594000-9597200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr18:9594000-9597600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr18:9594000-9599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:9594200-9597400	Weak transcription	Brain Germinal Matrix	brain
24	chr18:9594200-9600400	Weak transcription	Placenta	Placenta
25	chr18:9594200-9600400	Weak transcription	Fetal Stomach	stomach
26	chr18:9594200-9600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:9594200-9609200	Weak transcription	Aorta	Aorta
28	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:9594400-9597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr18:9594400-9600000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr18:9594600-9597200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr18:9594600-9597400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr18:9594800-9597400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr18:9594800-9597400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr18:9594800-9597600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr18:9594800-9597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:9594800-9600200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr18:9594800-9600400	Weak transcription	Fetal Thymus	thymus
39	chr18:9595000-9597400	Enhancers	A549	lung
40	chr18:9595000-9597600	Enhancers	HUVEC	blood vessel
41	chr18:9595000-9597800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:9595200-9597200	Weak transcription	K562	blood
43	chr18:9595200-9598000	Weak transcription	Dnd41	blood
44	chr18:9595200-9599600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9595200-9612000	Weak transcription	Esophagus	oesophagus
46	chr18:9595400-9597200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr18:9595400-9597400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:9595400-9597400	Enhancers	Osteobl	bone
49	chr18:9595400-9599400	Weak transcription	Brain Hippocampus Middle	brain
50	chr18:9595400-9601800	Weak transcription	Fetal Heart	heart

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