Variant report

Variant	rs2154986
Chromosome Location	chr11:63875557-63875558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63870131..63872162-chr11:63874556..63877458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126500	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1059440	0.82[EUR][1000 genomes]
rs11231701	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11601024	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11601577	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11602181	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11603212	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11606544	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607144	0.82[EUR][1000 genomes]
rs11607165	0.82[EUR][1000 genomes]
rs12418035	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574258	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12575642	0.81[ASN][1000 genomes]
rs12787852	0.82[EUR][1000 genomes]
rs12797120	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12802950	0.82[EUR][1000 genomes]
rs2015226	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282490	0.82[EUR][1000 genomes]
rs2875749	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34089806	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34113693	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34838337	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35095324	0.81[EUR][1000 genomes]
rs35458188	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35524387	0.80[EUR][1000 genomes]
rs35858916	0.82[EUR][1000 genomes]
rs3802933	0.82[EUR][1000 genomes]
rs3824854	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58632573	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591837	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66648159	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67546972	0.82[EUR][1000 genomes]
rs7102327	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7112277	0.82[EUR][1000 genomes]
rs7130030	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71479474	0.83[EUR][1000 genomes]
rs72918475	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72920332	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7939784	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7952318	0.81[ASN][1000 genomes]
rs882146	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2154986	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63863800-63876600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:63866000-63878800	Weak transcription	Esophagus	oesophagus
3	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:63867000-63882800	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:63867400-63878400	Weak transcription	HepG2	liver
6	chr11:63869600-63878400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:63870000-63879400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:63870000-63884400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:63871200-63884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:63871400-63881000	Weak transcription	Gastric	stomach
11	chr11:63871600-63876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63872200-63882400	Weak transcription	Fetal Brain Female	brain
13	chr11:63872600-63876800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:63872600-63877000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63872800-63883600	Weak transcription	Pancreas	Pancrea
16	chr11:63873200-63876400	Weak transcription	Right Ventricle	heart
17	chr11:63873400-63876200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63873400-63886800	Weak transcription	Colonic Mucosa	Colon
19	chr11:63873800-63878600	Weak transcription	Left Ventricle	heart
20	chr11:63873800-63884200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:63874000-63884200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:63874200-63876600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:63874200-63880000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:63874200-63881200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:63874200-63882800	Weak transcription	Fetal Stomach	stomach
26	chr11:63874200-63883400	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:63874200-63883800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:63874200-63883800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:63874600-63877200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:63875200-63875600	Enhancers	Psoas Muscle	Psoas
31	chr11:63875400-63878400	Weak transcription	Brain Germinal Matrix	brain
32	chr11:63875400-63878800	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:63875400-63880800	Weak transcription	Hela-S3	cervix
34	chr11:63875400-63883000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:63875400-63896200	Weak transcription	Spleen	Spleen

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