Variant report

Variant	rs34089806
Chromosome Location	chr11:63887987-63887988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63886159..63888775-chr11:63931578..63933986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1058735	0.83[EUR][1000 genomes]
rs1059440	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231701	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601024	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11601577	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602181	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603212	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11606544	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607007	0.83[EUR][1000 genomes]
rs11607144	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607165	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12418035	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12574258	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575642	0.85[ASN][1000 genomes]
rs12787852	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794145	0.83[EUR][1000 genomes]
rs12797120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798333	0.84[EUR][1000 genomes]
rs12802950	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2015226	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070765	0.83[EUR][1000 genomes]
rs2154986	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282490	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2875749	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34113693	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34838337	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35090903	0.83[EUR][1000 genomes]
rs35095324	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35458188	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35524387	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35858916	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3802933	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824854	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58632573	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591837	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66648159	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67546972	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102327	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7112277	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7130030	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71479474	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72918475	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72920332	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939784	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7944061	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952318	0.85[ASN][1000 genomes]
rs882146	0.90[EUR][1000 genomes];0.87[ASN][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	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
8	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
9	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
10	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
11	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
12	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
13	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34089806	PPP1R14B	cis	multi-tissue	Pritchard
rs34089806	TRPT1	cis	Muscle Skeletal	GTEx
rs34089806	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs34089806	PPP1R14B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
2	chr11:63879200-63888400	Weak transcription	Left Ventricle	heart
3	chr11:63879600-63890200	Weak transcription	Liver	Liver
4	chr11:63879800-63891600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:63881200-63888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:63881800-63891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:63882200-63889400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:63882200-63889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:63882200-63889600	Weak transcription	Lung	lung
10	chr11:63882200-63892800	Weak transcription	Fetal Kidney	kidney
11	chr11:63882800-63888000	Strong transcription	Fetal Stomach	stomach
12	chr11:63883000-63890800	Weak transcription	Dnd41	blood
13	chr11:63883200-63888400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:63883600-63888200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:63883600-63888200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:63883800-63888400	Weak transcription	Fetal Heart	heart
17	chr11:63884600-63889800	Weak transcription	Pancreas	Pancrea
18	chr11:63884800-63888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:63885000-63896600	Weak transcription	Hela-S3	cervix
20	chr11:63885200-63888200	Weak transcription	Esophagus	oesophagus
21	chr11:63885400-63888200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:63885400-63888200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:63885400-63888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:63885400-63889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:63885400-63892400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:63885400-63898600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:63885600-63888000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:63885600-63888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:63885600-63888400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:63885600-63889200	Weak transcription	Aorta	Aorta
31	chr11:63885600-63911200	Weak transcription	Gastric	stomach
32	chr11:63885800-63888000	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:63885800-63888200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:63885800-63888200	Weak transcription	Brain Anterior Caudate	brain
35	chr11:63885800-63888400	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:63885800-63888400	Weak transcription	Right Ventricle	heart
37	chr11:63886000-63888200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:63886000-63891000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:63886000-63891200	Enhancers	Fetal Brain Male	brain
40	chr11:63886200-63890800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:63886200-63890800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:63886800-63888200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:63886800-63908600	Weak transcription	Ovary	ovary
44	chr11:63887000-63888200	Weak transcription	HSMMtube	muscle
45	chr11:63887000-63888400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:63887000-63889000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:63887200-63892000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:63887400-63888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63887400-63890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:63887600-63888000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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