Variant report

Variant	rs60394481
Chromosome Location	chr11:63909035-63909036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63907528..63910274-chr11:63911901..63915955,5	K562	blood:
2	chr11:63754724..63756802-chr11:63908470..63911045,2	MCF-7	breast:
3	chr11:63906755..63909220-chr11:63909551..63912410,2	MCF-7	breast:
4	chr11:63908787..63911048-chr11:63919797..63921636,2	MCF-7	breast:
5	chr11:63903242..63905220-chr11:63906631..63909322,2	K562	blood:
6	chr11:63908789..63911720-chr11:63932470..63934235,2	MCF-7	breast:
7	chr11:63896044..63898939-chr11:63908774..63911161,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1011219	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231710	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11231713	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11231726	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11600628	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11600667	0.89[EUR][1000 genomes]
rs11604083	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605193	0.89[EUR][1000 genomes]
rs11605856	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607903	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12419038	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17773078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005272	0.88[EUR][1000 genomes]
rs2096706	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2186572	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3862371	0.89[EUR][1000 genomes]
rs55942618	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55970968	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56207008	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56311067	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57021319	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61083753	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7103915	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109921	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7122408	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123026	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs734762	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7941773	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs947939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
8	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
9	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
10	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
11	nsv356	chr11:63868847-63913129	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60394481	NUDT22	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63885600-63911200	Weak transcription	Gastric	stomach
2	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
3	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63897200-63918400	Weak transcription	Dnd41	blood
6	chr11:63898800-63916400	Weak transcription	Hela-S3	cervix
7	chr11:63900200-63931800	Weak transcription	Lung	lung
8	chr11:63900400-63916000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:63900800-63916200	Weak transcription	Liver	Liver
10	chr11:63902000-63916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:63902800-63915600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:63903600-63915600	Weak transcription	Left Ventricle	heart
13	chr11:63904200-63913400	Weak transcription	K562	blood
14	chr11:63905600-63909600	Enhancers	Brain Germinal Matrix	brain
15	chr11:63906000-63909600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:63906200-63913400	Weak transcription	Pancreas	Pancrea
17	chr11:63906800-63911400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63906800-63912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:63907000-63915400	Weak transcription	Fetal Heart	heart
20	chr11:63907000-63915600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:63907000-63915600	Weak transcription	Fetal Brain Female	brain
22	chr11:63907600-63909400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:63907800-63909600	Enhancers	Brain Anterior Caudate	brain
24	chr11:63908000-63909800	Enhancers	Colon Smooth Muscle	Colon
25	chr11:63908200-63909600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:63908200-63909800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:63908400-63909200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:63908400-63909600	Enhancers	Brain Hippocampus Middle	brain
29	chr11:63908600-63909400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:63908600-63909400	Enhancers	Ovary	ovary
31	chr11:63908600-63909600	Enhancers	Fetal Muscle Leg	muscle
32	chr11:63908600-63909800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:63908600-63910200	Strong transcription	HepG2	liver
34	chr11:63908800-63909200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:63908800-63909400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:63908800-63909400	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:63908800-63909400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:63908800-63909400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:63908800-63909600	Enhancers	Fetal Brain Male	brain
40	chr11:63908800-63909600	Enhancers	Psoas Muscle	Psoas
41	chr11:63908800-63909600	Enhancers	Right Ventricle	heart
42	chr11:63908800-63909800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:63909000-63909400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:63909000-63909400	Enhancers	Spleen	Spleen
45	chr11:63909000-63909600	Enhancers	Adipose Nuclei	Adipose
46	chr11:63909000-63912000	Weak transcription	Fetal Stomach	stomach

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