Variant report

Variant	rs35613453
Chromosome Location	chr22:31077056-31077057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31070829..31073194-chr22:31076517..31078141,2	K562	blood:
2	chr22:31075909..31077591-chr22:31089407..31091958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13053933	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13055490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056984	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs136373	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs136376	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs136377	0.95[AMR][1000 genomes]
rs136378	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs136381	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136382	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136385	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs136386	0.80[EUR][1000 genomes]
rs136390	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28360580	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34360174	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34779325	0.99[EUR][1000 genomes]
rs34944552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34961431	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35137429	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35384996	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4820895	0.90[AMR][1000 genomes]
rs71331257	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' 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	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35613453	CTA-963H5.5	cis	Whole Blood	GTEx
rs35613453	DUSP18	cis	Whole Blood	GTEx
rs35613453	DUSP18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31074400-31078200	Enhancers	Brain Anterior Caudate	brain
2	chr22:31074600-31081400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:31075400-31077200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:31075400-31077400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr22:31075400-31077600	Enhancers	Brain Hippocampus Middle	brain
6	chr22:31075400-31078000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:31075800-31077200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:31075800-31077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:31076000-31077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:31076000-31077800	Weak transcription	K562	blood
11	chr22:31076000-31078200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:31076400-31077400	Enhancers	GM12878-XiMat	blood
13	chr22:31076400-31078400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:31076600-31077600	Enhancers	Brain Cingulate Gyrus	brain
15	chr22:31076800-31077200	Enhancers	Psoas Muscle	Psoas
16	chr22:31076800-31077200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr22:31076800-31077600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr22:31076800-31077600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:31076800-31077600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:31076800-31077600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:31076800-31077600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31076800-31077600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:31076800-31077600	Enhancers	Fetal Stomach	stomach
24	chr22:31076800-31077600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr22:31076800-31078400	Enhancers	Colon Smooth Muscle	Colon
26	chr22:31076800-31078400	Enhancers	Rectal Smooth Muscle	rectum
27	chr22:31076800-31078400	Enhancers	Stomach Smooth Muscle	stomach
28	chr22:31077000-31077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:31077000-31077400	Enhancers	Fetal Heart	heart
30	chr22:31077000-31077600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31077000-31077600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:31077000-31077600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:31077000-31077600	Enhancers	Right Ventricle	heart
34	chr22:31077000-31078200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr22:31077000-31078200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr22:31077000-31078200	Enhancers	Placenta	Placenta
37	chr22:31077000-31078400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr22:31077000-31078400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr22:31077000-31078400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr22:31077000-31078400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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