Variant report

Variant	rs1738238
Chromosome Location	chr6:38764066-38764067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38762200..38765807-chr6:38769309..38772341,3	K562	blood:
2	chr6:38756316..38758833-chr6:38761826..38764671,2	MCF-7	breast:
3	chr6:38761644..38764833-chr6:38770187..38773339,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1033525	0.83[ASN][1000 genomes]
rs1033526	0.83[ASN][1000 genomes]
rs1157884	0.95[ASN][1000 genomes]
rs1614699	0.87[ASN][1000 genomes]
rs1630487	0.92[ASN][1000 genomes]
rs1678657	0.90[ASN][1000 genomes]
rs1678661	0.83[ASN][1000 genomes]
rs1678667	0.88[ASN][1000 genomes]
rs1678669	0.95[ASN][1000 genomes]
rs1678675	0.95[ASN][1000 genomes]
rs1678717	0.88[ASN][1000 genomes]
rs1678718	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678725	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678727	0.87[ASN][1000 genomes]
rs1738199	0.80[ASN][1000 genomes]
rs1738203	0.88[ASN][1000 genomes]
rs1738232	0.95[ASN][1000 genomes]
rs1738236	0.95[ASN][1000 genomes]
rs1738239	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738241	0.97[ASN][1000 genomes]
rs1738243	0.95[ASN][1000 genomes]
rs1738247	0.92[ASN][1000 genomes]
rs1738263	0.90[ASN][1000 genomes]
rs761348	0.95[ASN][1000 genomes]
rs982705	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs984523	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv462916	chr6:38747770-38782401	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv602960	chr6:38747770-38782401	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1738238	GLO1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38763400-38764200	Enhancers	Pancreas	Pancrea
2	chr6:38763400-38764200	Enhancers	HMEC	breast
3	chr6:38763400-38764400	Enhancers	NHEK	skin
4	chr6:38763400-38768600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:38763600-38764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:38763600-38765200	Enhancers	Fetal Kidney	kidney
7	chr6:38763600-38765400	Enhancers	Fetal Intestine Large	intestine
8	chr6:38763600-38765600	Enhancers	Stomach Mucosa	stomach
9	chr6:38763600-38766800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:38763800-38764200	Bivalent Enhancer	HepG2	liver
11	chr6:38763800-38764600	Flanking Active TSS	K562	blood
12	chr6:38763800-38765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:38763800-38766000	Enhancers	Fetal Intestine Small	intestine
14	chr6:38764000-38764400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:38764000-38764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:38764000-38764600	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:38764000-38765000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:38764000-38765200	Flanking Active TSS	HUVEC	blood vessel
19	chr6:38764000-38766400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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