Variant report

Variant	rs11606544
Chromosome Location	chr11:63896901-63896902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63896507-63897570	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63894757..63897753-chr11:63898307..63901137,2	K562	blood:
2	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
3	chr11:63896273..63898593-chr11:63900938..63902757,2	K562	blood:
4	chr11:63891937..63894081-chr11:63896157..63898107,2	K562	blood:
5	chr11:63788062..63790678-chr11:63896459..63899438,2	K562	blood:
6	chr11:63896044..63898939-chr11:63908774..63911161,2	MCF-7	breast:
7	chr11:63888929..63891222-chr11:63896109..63898759,2	MCF-7	breast:

No data

Variant related genes	Relation type
MACROD1	TF binding region

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

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

rs_ID	r²[population]
rs1058735	0.86[EUR][1000 genomes]
rs1059440	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231701	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601024	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11601577	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603212	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607007	0.86[EUR][1000 genomes]
rs11607144	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607165	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12418035	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12574258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575642	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12787852	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794145	0.86[EUR][1000 genomes]
rs12797120	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798333	0.87[EUR][1000 genomes]
rs12802950	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2015226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070765	0.86[EUR][1000 genomes]
rs2154986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282490	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2875749	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34089806	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34838337	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35090903	0.86[EUR][1000 genomes]
rs35095324	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35458188	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35524387	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35858916	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3802933	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824854	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58632573	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66648159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67546972	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102327	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7112277	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7130030	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71479474	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72918475	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72920332	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939784	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7944061	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952318	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs882146	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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	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
14	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
15	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11606544	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs11606544	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs11606544	TRPT1	cis	Muscle Skeletal	GTEx
rs11606544	PPP1R14B	cis	multi-tissue	Pritchard

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63885400-63898600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:63885600-63911200	Weak transcription	Gastric	stomach
3	chr11:63886800-63908600	Weak transcription	Ovary	ovary
4	chr11:63890000-63899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:63890200-63898000	Weak transcription	Lung	lung
6	chr11:63890200-63899200	Weak transcription	Fetal Lung	lung
7	chr11:63890600-63899200	Weak transcription	Left Ventricle	heart
8	chr11:63890600-63899400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
10	chr11:63890800-63899200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63890800-63899200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:63890800-63899400	Weak transcription	Right Atrium	heart
13	chr11:63891000-63898400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:63891000-63899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:63891200-63897400	Weak transcription	Fetal Brain Male	brain
16	chr11:63891200-63897400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:63891200-63898800	Weak transcription	Fetal Brain Female	brain
18	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:63892200-63900400	Enhancers	Pancreas	Pancrea
20	chr11:63892400-63904400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:63893000-63899400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:63893200-63900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:63893600-63897400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:63893800-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:63894000-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:63894000-63898400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:63894000-63898400	Weak transcription	Fetal Thymus	thymus
28	chr11:63894000-63899000	Weak transcription	Primary T cells from cord blood	blood
29	chr11:63894400-63898200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:63894400-63900400	Enhancers	Fetal Intestine Large	intestine
31	chr11:63894600-63899200	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:63894800-63898200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:63894800-63898600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:63894800-63899200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:63895600-63899600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:63895800-63899200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:63896000-63897800	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:63896000-63898000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:63896000-63898000	Weak transcription	Brain Germinal Matrix	brain
41	chr11:63896000-63899000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:63896000-63899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:63896000-63899400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:63896200-63897800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:63896400-63897000	Genic enhancers	Fetal Intestine Small	intestine
46	chr11:63896400-63898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:63896600-63897000	Enhancers	Brain Anterior Caudate	brain
48	chr11:63896600-63897000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr11:63896600-63897800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:63896600-63898600	Weak transcription	H1 Cell Line	embryonic stem cell

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