Variant report

Variant	rs61896053
Chromosome Location	chr11:47319111-47319112
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	chr11:47312781..47314290-chr11:47318063..47320139,2	K562	blood:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10838694	0.90[AMR][1000 genomes]
rs11039157	0.83[AMR][1000 genomes]
rs11530168	0.93[AMR][1000 genomes]
rs12221497	0.83[AMR][1000 genomes]
rs12573962	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576751	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576935	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12578030	0.81[ASN][1000 genomes]
rs17197710	0.81[ASN][1000 genomes]
rs17726390	0.90[AMR][1000 genomes]
rs3736101	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758674	0.83[AMR][1000 genomes]
rs3816724	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301449	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304347	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41310332	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45489595	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4647713	0.81[ASN][1000 genomes]
rs4647720	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647735	0.87[EUR][1000 genomes]
rs4647736	0.82[ASN][1000 genomes]
rs4647759	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55764401	0.90[AMR][1000 genomes]
rs56168519	0.93[AMR][1000 genomes]
rs56177220	0.90[AMR][1000 genomes]
rs56825896	0.90[AMR][1000 genomes]
rs61896015	0.83[AMR][1000 genomes]
rs61896047	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61896051	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897361	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61897855	0.81[ASN][1000 genomes]
rs61897856	0.81[ASN][1000 genomes]
rs61897858	0.81[ASN][1000 genomes]
rs61897859	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61896053	PACSIN3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295000-47323600	Strong transcription	Dnd41	blood
3	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
5	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
9	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
11	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
16	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:47295600-47320200	Strong transcription	Fetal Intestine Large	intestine
22	chr11:47295600-47321200	Strong transcription	Brain Germinal Matrix	brain
23	chr11:47295600-47321800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47295800-47319600	Strong transcription	Fetal Intestine Small	intestine
31	chr11:47295800-47319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:47295800-47320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:47296000-47319400	Strong transcription	Lung	lung
38	chr11:47296000-47319800	Strong transcription	Brain Anterior Caudate	brain
39	chr11:47296000-47320200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:47296000-47320400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr11:47296000-47321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:47296000-47321800	Strong transcription	Colonic Mucosa	Colon
43	chr11:47296000-47321800	Strong transcription	Ovary	ovary
44	chr11:47296000-47322200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:47296000-47323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:47296000-47324000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:47296200-47319600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:47296200-47320000	Strong transcription	Brain Hippocampus Middle	brain
50	chr11:47296200-47327000	Strong transcription	Adipose Nuclei	Adipose

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