Variant report

Variant	rs12433361
Chromosome Location	chr14:68095066-68095067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68092553..68094156-chr14:68094996..68096615,2	K562	blood:
2	chr14:68086666..68090329-chr14:68093973..68096586,3	K562	blood:
3	chr14:68066403..68069095-chr14:68092601..68095157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11628590	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343243	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17249437	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885042	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742878	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759757	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759759	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902501	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902503	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573787	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517376	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67778250	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7151920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161243	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013117	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014035	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs12433361	RDH11	cis	Nerve Tibial	GTEx
rs12433361	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 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	chr14:68087600-68097400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:68088000-68100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:68088200-68097600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
11	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
13	chr14:68089800-68103000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:68090000-68109800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:68090200-68101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:68090200-68102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:68090200-68102800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:68090200-68110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:68090200-68111000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:68090200-68112000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
26	chr14:68090400-68100200	Weak transcription	K562	blood
27	chr14:68090400-68102800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:68090800-68095800	Weak transcription	HepG2	liver
30	chr14:68090800-68097600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68090800-68100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:68090800-68102200	Weak transcription	Psoas Muscle	Psoas
33	chr14:68090800-68103000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:68090800-68110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:68090800-68111200	Weak transcription	HUVEC	blood vessel
36	chr14:68090800-68111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:68091000-68103000	Weak transcription	Hela-S3	cervix
39	chr14:68091600-68096000	Weak transcription	Left Ventricle	heart
40	chr14:68091800-68098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:68091800-68109000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:68091800-68111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:68092000-68100200	Weak transcription	Fetal Brain Female	brain
46	chr14:68092000-68102000	Weak transcription	NHEK	skin
47	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:68094800-68098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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