Variant report

Variant	rs11601577
Chromosome Location	chr11:63928574-63928575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63924134..63929191-chr11:63930561..63934852,10	K562	blood:
2	chr11:63927314..63929406-chr11:63949302..63951130,2	K562	blood:
3	chr11:63927314..63929406-chr11:63948232..63951130,3	K562	blood:
4	chr11:63928324..63930253-chr11:63969552..63972327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1058735	0.90[EUR][1000 genomes]
rs1059440	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231701	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11601024	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602181	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11603212	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606544	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607007	0.90[EUR][1000 genomes]
rs11607144	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607165	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418035	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574258	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575642	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12787852	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12794145	0.90[EUR][1000 genomes]
rs12797120	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12798333	0.88[EUR][1000 genomes]
rs12802950	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015226	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070765	0.90[EUR][1000 genomes]
rs2154986	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282490	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2875749	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34089806	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34113693	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34838337	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35090903	0.90[EUR][1000 genomes]
rs35095324	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35458188	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35524387	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35858916	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3802933	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824854	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58632573	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591837	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66648159	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67546972	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102327	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112277	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130030	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71479474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72918475	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72920332	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7939784	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944061	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952318	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882146	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11601577	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs11601577	PPP1R14B	cis	multi-tissue	Pritchard
rs11601577	TRPT1	cis	Muscle Skeletal	GTEx
rs11601577	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63900200-63931800	Weak transcription	Lung	lung
2	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
5	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:63918600-63931800	Weak transcription	Gastric	stomach
8	chr11:63919000-63932000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:63919200-63928800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:63920200-63931800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:63920600-63928600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:63920600-63928800	Weak transcription	Aorta	Aorta
13	chr11:63920600-63931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:63920600-63931800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:63920600-63932200	Weak transcription	Brain Substantia Nigra	brain
16	chr11:63920600-63932200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:63920600-63932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:63920600-63932400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:63920800-63931800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:63920800-63931800	Weak transcription	Liver	Liver
21	chr11:63920800-63931800	Weak transcription	Colonic Mucosa	Colon
22	chr11:63920800-63932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:63921000-63931600	Weak transcription	Dnd41	blood
24	chr11:63921000-63931800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:63921000-63932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:63921000-63932200	Weak transcription	Small Intestine	intestine
27	chr11:63921000-63932400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:63921000-63932400	Weak transcription	A549	lung
29	chr11:63921400-63932200	Weak transcription	Esophagus	oesophagus
30	chr11:63921600-63929600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:63921800-63932000	Weak transcription	Ovary	ovary
32	chr11:63921800-63932200	Weak transcription	K562	blood
33	chr11:63922000-63931800	Weak transcription	Brain Germinal Matrix	brain
34	chr11:63922000-63932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:63922000-63932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:63922200-63932200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63922600-63930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:63924200-63932000	Weak transcription	HSMMtube	muscle
39	chr11:63924400-63930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:63924400-63931600	Weak transcription	Spleen	Spleen
41	chr11:63924400-63931800	Weak transcription	Pancreas	Pancrea
42	chr11:63924400-63932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:63924400-63932200	Weak transcription	Fetal Stomach	stomach
44	chr11:63924400-63932400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:63924800-63932200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:63925000-63932800	Weak transcription	Thymus	Thymus
47	chr11:63925400-63931200	Weak transcription	HepG2	liver
48	chr11:63925600-63930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:63925600-63931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:63925600-63932200	Weak transcription	Fetal Heart	heart

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