Variant report

Variant	rs12589335
Chromosome Location	chr14:70811570-70811571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10142102	0.90[JPT][hapmap]
rs10148586	0.91[JPT][hapmap]
rs1044527	0.93[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11158855	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623974	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626325	0.84[ASN][1000 genomes]
rs12146968	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12147722	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12147825	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12433355	0.90[ASN][1000 genomes]
rs12588244	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12590679	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879801	0.88[ASN][1000 genomes]
rs12887715	0.84[ASN][1000 genomes]
rs12890415	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2332372	0.81[ASN][1000 genomes]
rs2332421	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34802428	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35164282	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35186208	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35469188	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35671518	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35859016	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759774	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61977537	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61977542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61977552	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7141407	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143274	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7144424	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7152898	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005362	0.88[ASN][1000 genomes]
rs8014520	0.83[ASN][1000 genomes]
rs8015005	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs8015988	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016060	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021180	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9323536	0.90[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12589335	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70792800-70825200	Weak transcription	NH-A	brain
3	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:70799800-70811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70799800-70812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:70800000-70825000	Weak transcription	HSMM	muscle
8	chr14:70800600-70821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:70800800-70815000	Weak transcription	Right Ventricle	heart
10	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:70801200-70811600	Weak transcription	Pancreas	Pancrea
12	chr14:70801200-70815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:70801200-70815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:70801400-70811600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70801400-70812600	Weak transcription	HepG2	liver
19	chr14:70801400-70813000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
21	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:70802200-70812800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:70802200-70813400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:70802200-70815200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:70802200-70822200	Weak transcription	NHEK	skin
27	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
28	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
29	chr14:70805000-70813000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:70805000-70819000	ZNF genes & repeats	GM12878-XiMat	blood
31	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:70805400-70813000	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr14:70805600-70811600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:70806400-70823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:70806600-70813400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
37	chr14:70806800-70821200	Weak transcription	Aorta	Aorta
38	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
39	chr14:70807000-70812400	Weak transcription	Spleen	Spleen
40	chr14:70807000-70812800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:70807000-70821000	Weak transcription	Gastric	stomach
42	chr14:70807200-70811800	Weak transcription	Ovary	ovary
43	chr14:70807200-70822400	Weak transcription	Psoas Muscle	Psoas
44	chr14:70807400-70811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:70807400-70821400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:70807600-70811800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:70807600-70812400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:70807600-70812600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:70807600-70821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:70807800-70825200	Weak transcription	A549	lung

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