Variant report

Variant	rs12893282
Chromosome Location	chr14:69912008-69912009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69906509..69908579-chr14:69909822..69912590,2	K562	blood:
2	chr14:69863801..69866366-chr14:69909938..69912439,2	MCF-7	breast:
3	chr14:69905430..69909394-chr14:69909607..69912590,4	K562	blood:

Variant related genes	Relation type
ENSG00000029364	Chromatin interaction
ENSG00000100632	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10083335	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10129186	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10129720	0.86[AMR][1000 genomes]
rs10138313	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140273	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142144	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143593	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10143710	0.83[AMR][1000 genomes]
rs10151691	0.83[AMR][1000 genomes]
rs11622711	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623094	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11624577	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147478	0.83[AMR][1000 genomes]
rs12147967	0.83[AMR][1000 genomes]
rs12878175	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12884348	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12884802	0.83[ASN][1000 genomes]
rs12895620	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466255	0.83[AMR][1000 genomes]
rs1958121	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1965878	0.83[AMR][1000 genomes]
rs2085193	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2100489	0.85[AMR][1000 genomes]
rs2124191	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296722	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296724	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296725	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296727	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28401542	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28451089	0.82[AMR][1000 genomes]
rs28470369	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28661733	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28879441	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34405286	0.83[AMR][1000 genomes]
rs34450502	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34731892	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34834622	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34840252	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759770	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3759771	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899294	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899295	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902717	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902719	0.84[AMR][1000 genomes]
rs56137363	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56392460	0.83[AMR][1000 genomes]
rs56953348	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58553067	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67502261	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71423356	0.83[ASN][1000 genomes]
rs7143858	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145944	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7147710	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159476	0.87[AMR][1000 genomes]
rs7160248	0.83[AMR][1000 genomes]
rs8010767	0.83[AMR][1000 genomes]
rs8012954	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014890	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015317	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015425	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016781	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs959242	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12893282	SLC39A9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69868000-69923200	Weak transcription	Esophagus	oesophagus
2	chr14:69887400-69913000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:69889200-69922400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:69889200-69923400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:69889400-69923200	Weak transcription	Pancreas	Pancrea
6	chr14:69890000-69922400	Weak transcription	Fetal Brain Male	brain
7	chr14:69890800-69922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:69891200-69922800	Weak transcription	Colonic Mucosa	Colon
9	chr14:69891200-69923000	Weak transcription	NHLF	lung
10	chr14:69892000-69920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:69892200-69931400	Weak transcription	K562	blood
12	chr14:69893000-69919800	Weak transcription	Spleen	Spleen
13	chr14:69893000-69922800	Weak transcription	Aorta	Aorta
14	chr14:69893200-69926800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69893400-69922200	Weak transcription	Left Ventricle	heart
16	chr14:69893400-69922400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:69893400-69922600	Weak transcription	Brain Germinal Matrix	brain
18	chr14:69893400-69922800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:69893400-69923000	Weak transcription	Lung	lung
20	chr14:69893600-69920200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:69893600-69920400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:69893600-69922000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:69893600-69922400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:69893600-69922400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:69893600-69922800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:69893600-69923200	Weak transcription	Gastric	stomach
27	chr14:69893600-69925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:69894000-69916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:69894000-69922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:69894000-69922800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:69894000-69924400	Weak transcription	Brain Angular Gyrus	brain
32	chr14:69894400-69919800	Weak transcription	Ovary	ovary
33	chr14:69894600-69919200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:69894600-69920600	Weak transcription	Adipose Nuclei	Adipose
35	chr14:69894600-69921800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:69894600-69922200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:69894600-69922800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:69895000-69915000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:69895600-69919800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:69895600-69921400	Weak transcription	NH-A	brain
41	chr14:69896800-69922400	Weak transcription	Brain Anterior Caudate	brain
42	chr14:69897000-69922000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:69902400-69927000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:69903600-69922200	Weak transcription	Small Intestine	intestine
45	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
46	chr14:69906400-69912400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:69906600-69921400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:69906800-69913000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:69906800-69921200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:69906800-69921400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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