Variant report

Variant	rs56256221
Chromosome Location	chr14:68097721-68097722
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68087557..68089288-chr14:68096607..68098723,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10459532	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1059238	0.86[EUR][1000 genomes]
rs11622441	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11623700	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624498	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11624868	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625839	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628860	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12050393	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17104490	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17104526	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17104544	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104550	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17249472	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2234511	0.86[EUR][1000 genomes]
rs28390085	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28532066	0.96[EUR][1000 genomes]
rs3742880	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3742881	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902506	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902508	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56083029	0.86[EUR][1000 genomes]
rs56244142	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7140310	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7142897	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7144243	0.83[ASN][1000 genomes]
rs7151205	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7151230	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7152326	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155788	0.83[EUR][1000 genomes]
rs72721082	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72721090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723111	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72723115	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72723122	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723126	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723137	0.88[EUR][1000 genomes]
rs72723144	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs761513	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs761514	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8009250	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013767	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56256221	RDH11	Cis_1M	lymphoblastoid	RTeQTL
rs56256221	RDH11	cis	Nerve Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68109600	Weak transcription	Gastric	stomach
2	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
3	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68088000-68100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
7	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
9	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
11	chr14:68089800-68103000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:68090000-68109800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:68090200-68101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:68090200-68102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:68090200-68102800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:68090200-68110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:68090200-68111000	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:68090200-68112000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:68090400-68100200	Weak transcription	K562	blood
25	chr14:68090400-68102800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:68090800-68100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:68090800-68102200	Weak transcription	Psoas Muscle	Psoas
29	chr14:68090800-68103000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:68090800-68110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:68090800-68111200	Weak transcription	HUVEC	blood vessel
32	chr14:68090800-68111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:68091000-68103000	Weak transcription	Hela-S3	cervix
35	chr14:68091800-68098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:68091800-68109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:68091800-68111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:68092000-68100200	Weak transcription	Fetal Brain Female	brain
41	chr14:68092000-68102000	Weak transcription	NHEK	skin
42	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:68094800-68098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:68096600-68112400	Weak transcription	HepG2	liver
45	chr14:68097600-68098000	Strong transcription	Brain Germinal Matrix	brain
46	chr14:68097600-68098000	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links