Variant report

Variant	rs136382
Chromosome Location	chr22:31114086-31114087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31108562..31111393-chr22:31113342..31115524,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11912792	1.00[ASN][1000 genomes]
rs13053290	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13053933	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055490	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055538	1.00[ASN][1000 genomes]
rs13056984	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433567	1.00[ASN][1000 genomes]
rs136225	0.88[GIH][hapmap]
rs136354	0.89[LWK][hapmap];1.00[YRI][hapmap]
rs136369	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs136370	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs136371	0.81[EUR][1000 genomes]
rs136372	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs136373	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs136376	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs136377	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs136378	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136386	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs136390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672875	1.00[ASN][1000 genomes]
rs34360174	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779325	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34944552	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34961431	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35137429	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35384996	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613453	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820895	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5994332	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71331257	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7288635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7290980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9621096	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs136382	DUSP18	cis	Whole Blood	GTEx
rs136382	CTA-963H5.5	cis	Whole Blood	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31112600-31114600	Enhancers	HMEC	breast
2	chr22:31112600-31117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31112800-31114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:31112800-31114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:31112800-31114200	Enhancers	Brain Anterior Caudate	brain
6	chr22:31112800-31114200	Enhancers	HUVEC	blood vessel
7	chr22:31112800-31114200	Enhancers	NHEK	skin
8	chr22:31112800-31114400	Enhancers	HSMMtube	muscle
9	chr22:31112800-31114400	Enhancers	NH-A	brain
10	chr22:31112800-31114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:31112800-31114600	Enhancers	Osteobl	bone
12	chr22:31112800-31114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31112800-31114800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:31112800-31115200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:31112800-31115400	Enhancers	HSMM	muscle
16	chr22:31112800-31115600	Enhancers	Brain Hippocampus Middle	brain
17	chr22:31113000-31114400	Enhancers	Brain Substantia Nigra	brain
18	chr22:31113200-31114400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr22:31113200-31114400	Enhancers	Brain Angular Gyrus	brain
20	chr22:31113200-31114400	Enhancers	NHLF	lung
21	chr22:31113200-31115200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:31113200-31115400	Enhancers	Brain Cingulate Gyrus	brain
23	chr22:31113200-31115400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr22:31113400-31114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:31113400-31114200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr22:31113400-31114200	Enhancers	A549	lung
27	chr22:31113400-31114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31113600-31114200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:31113600-31114200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:31113600-31114200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:31113600-31114200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:31113800-31114200	Enhancers	Spleen	Spleen
33	chr22:31113800-31114200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31114000-31114200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:31114000-31114200	Enhancers	Right Atrium	heart
37	chr22:31114000-31114400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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