Variant report

Variant	rs149191
Chromosome Location	chr5:112252258-112252259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112249716..112252598-chr5:112302249..112303940,2	MCF-7	breast:
2	chr5:112246563..112249281-chr5:112250414..112253168,3	K562	blood:
3	chr5:112248880..112253416-chr5:112311841..112314795,5	K562	blood:
4	chr5:112243670..112246215-chr5:112250359..112252946,2	K562	blood:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs149130	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs149190	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs149192	0.92[EUR][1000 genomes]
rs149193	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs151979	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs151980	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153544	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs153551	0.80[AMR][1000 genomes]
rs153553	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153556	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153557	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153559	0.91[EUR][1000 genomes]
rs153561	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153563	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153569	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs154344	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1644099	0.83[ASN][1000 genomes]
rs17135222	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2545156	0.81[EUR][1000 genomes]
rs2545170	0.81[EUR][1000 genomes]
rs3317	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs368575	0.82[EUR][1000 genomes]
rs410701	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs419155	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs448613	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs456531	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467660	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs468751	0.84[EUR][1000 genomes]
rs469523	0.82[ASN][1000 genomes]
rs469675	0.82[ASN][1000 genomes]
rs469753	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469886	0.83[EUR][1000 genomes]
rs67293732	0.81[EUR][1000 genomes]
rs712670	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs818426	0.82[EUR][1000 genomes]
rs818428	0.84[EUR][1000 genomes]
rs818430	0.84[EUR][1000 genomes]
rs818797	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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs149191	REEP5	Cis_1M	lymphoblastoid	RTeQTL
rs149191	REEP5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
8	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112237400-112254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112238400-112252800	Weak transcription	Small Intestine	intestine
11	chr5:112238400-112253800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:112242200-112254200	Weak transcription	Fetal Kidney	kidney
13	chr5:112242400-112252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:112243200-112254000	Weak transcription	Fetal Brain Male	brain
16	chr5:112243400-112252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:112245800-112252400	Weak transcription	Fetal Thymus	thymus
18	chr5:112245800-112252800	Weak transcription	Colonic Mucosa	Colon
19	chr5:112245800-112253200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:112245800-112253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:112246000-112254000	Weak transcription	Esophagus	oesophagus
22	chr5:112246000-112254000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:112246200-112254000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:112246800-112253400	Weak transcription	Psoas Muscle	Psoas
25	chr5:112247000-112252600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112247800-112255800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112248000-112255600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:112248200-112255600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:112248400-112256000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:112249000-112252800	Weak transcription	Pancreas	Pancrea
31	chr5:112249200-112254000	Strong transcription	Placenta	Placenta
32	chr5:112249400-112254200	Strong transcription	Liver	Liver
33	chr5:112249400-112254400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:112249400-112255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:112249600-112254200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:112250000-112254600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:112250200-112252800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:112250200-112254000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr5:112250200-112254400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112250200-112254800	Genic enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:112250400-112253200	Weak transcription	Gastric	stomach
42	chr5:112250400-112253800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:112250400-112253800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112250400-112254000	Weak transcription	Stomach Mucosa	stomach
45	chr5:112250400-112254200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:112250600-112253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:112250600-112254000	Weak transcription	Spleen	Spleen
48	chr5:112250800-112253200	Weak transcription	NHLF	lung
49	chr5:112250800-112254000	Strong transcription	NHEK	skin
50	chr5:112250800-112255400	Strong transcription	HMEC	breast

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