Variant report

Variant	rs2080897
Chromosome Location	chr5:112367594-112367595
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	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
2	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10059599	0.81[EUR][1000 genomes]
rs12516502	0.95[ASN][1000 genomes]
rs12719155	0.89[EUR][1000 genomes]
rs2052484	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080896	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112452	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2112453	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2161244	0.95[ASN][1000 genomes]
rs2416301	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3733969	0.88[EUR][1000 genomes]
rs3857433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705530	0.81[EUR][1000 genomes]
rs4705532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705533	0.95[ASN][1000 genomes]
rs4705743	0.88[EUR][1000 genomes]
rs4705746	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705751	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705754	0.95[ASN][1000 genomes]
rs59147465	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59265685	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59664033	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7447818	0.95[ASN][1000 genomes]
rs7718810	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7721666	0.84[EUR][1000 genomes]
rs878073	0.95[ASN][1000 genomes]
rs878076	0.95[ASN][1000 genomes]
rs882253	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs888844	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs888845	0.95[ASN][1000 genomes]
rs9326869	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2080897	DCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
3	chr5:112352400-112367800	Strong transcription	Liver	Liver
4	chr5:112359600-112367800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
6	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:112360400-112367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:112360400-112368000	Weak transcription	Primary B cells from cord blood	blood
9	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
10	chr5:112361000-112368000	Strong transcription	Fetal Stomach	stomach
11	chr5:112361400-112368200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
14	chr5:112363600-112368400	Weak transcription	Psoas Muscle	Psoas
15	chr5:112363600-112368600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112363600-112379200	Weak transcription	Gastric	stomach
19	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
20	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:112363800-112368200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
25	chr5:112363800-112376200	Weak transcription	Dnd41	blood
26	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
27	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
30	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:112364000-112367800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:112364000-112368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:112364000-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:112364000-112368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:112364000-112370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
37	chr5:112364000-112374600	Weak transcription	Lung	lung
38	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
39	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:112364200-112370400	Weak transcription	NHEK	skin
41	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:112364400-112368600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
44	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:112364800-112369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:112364800-112370400	Weak transcription	HMEC	breast
47	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
49	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
50	chr5:112365000-112368600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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