Variant report

Variant	rs10039618
Chromosome Location	chr5:112390049-112390050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
2	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
3	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
4	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
5	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10045658	0.89[CHB][hapmap]
rs10054158	0.80[CHB][hapmap]
rs10058407	0.86[CHB][hapmap]
rs10223151	0.89[CHB][hapmap]
rs10223152	0.88[CHB][hapmap]
rs10477486	0.84[CHB][hapmap]
rs11241190	0.89[CHB][hapmap]
rs11744218	0.89[CHB][hapmap]
rs11744828	0.89[CHB][hapmap]
rs11744956	0.89[CHB][hapmap]
rs11749921	0.90[JPT][hapmap];0.80[AMR][1000 genomes]
rs11750093	0.89[CHB][hapmap]
rs11960706	0.82[CHB][hapmap]
rs1363333	0.80[JPT][hapmap]
rs1549181	0.80[JPT][hapmap]
rs2227947	0.84[CHB][hapmap]
rs3857434	0.80[JPT][hapmap]
rs3890775	0.89[CHB][hapmap]
rs4074190	0.91[JPT][hapmap]
rs4075350	0.80[JPT][hapmap]
rs4283779	0.89[CHB][hapmap]
rs4301226	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4397121	0.89[CHB][hapmap]
rs4463174	0.84[CHB][hapmap]
rs4599529	0.80[CHB][hapmap]
rs4645326	0.89[CHB][hapmap]
rs4705539	0.89[CHB][hapmap]
rs4705750	0.80[JPT][hapmap]
rs4705758	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs4705763	0.86[EUR][1000 genomes]
rs6594665	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs6594680	0.89[CHB][hapmap]
rs6859562	0.84[CHB][hapmap]
rs6861166	0.89[CHB][hapmap]
rs6862481	0.89[CHB][hapmap]
rs6866566	0.89[CHB][hapmap]
rs6866706	0.89[CHB][hapmap]
rs6873623	0.89[CHB][hapmap]
rs6877570	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6877769	0.81[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs6879138	0.89[CHB][hapmap]
rs6879589	0.89[CHB][hapmap];0.96[ASN][1000 genomes]
rs6879633	0.94[CHB][hapmap]
rs6879942	0.89[CHB][hapmap]
rs6893389	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6894219	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs6898297	0.89[CHB][hapmap]
rs7670	0.80[JPT][hapmap]
rs7701781	0.80[JPT][hapmap]
rs7713290	0.89[CHB][hapmap]
rs7713336	0.89[CHB][hapmap]
rs7714010	0.89[CHB][hapmap]
rs7714160	0.89[CHB][hapmap]
rs7714492	0.89[CHB][hapmap]
rs7714725	0.89[CHB][hapmap]
rs7730767	0.84[CHB][hapmap]
rs7731890	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs7732198	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7734411	0.89[CHB][hapmap]
rs7736823	0.89[CHB][hapmap]
rs9122	0.80[JPT][hapmap]
rs9326874	0.89[CHB][hapmap]
rs9326875	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv516887	chr5:112379659-112396174	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10039618	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs10039618	DCP2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:112371400-112391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
13	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
15	chr5:112383200-112409400	Strong transcription	Liver	Liver
16	chr5:112383400-112395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:112383600-112392000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:112383600-112394200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112383800-112393000	Weak transcription	Brain Germinal Matrix	brain
20	chr5:112383800-112394000	Weak transcription	Fetal Thymus	thymus
21	chr5:112384000-112393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:112384200-112390200	Weak transcription	Fetal Intestine Large	intestine
24	chr5:112384200-112392600	Weak transcription	Fetal Kidney	kidney
25	chr5:112384200-112393000	Weak transcription	Fetal Brain Male	brain
26	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
30	chr5:112385000-112390400	Weak transcription	Lung	lung
31	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
32	chr5:112386400-112394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:112386600-112393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:112386800-112391600	Strong transcription	Fetal Stomach	stomach
35	chr5:112386800-112394400	Weak transcription	Brain Anterior Caudate	brain
36	chr5:112386800-112395200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:112387200-112391400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr5:112387200-112394400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:112387200-112395000	Weak transcription	Brain Angular Gyrus	brain
40	chr5:112387400-112394000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:112387600-112394600	Weak transcription	HSMMtube	muscle
42	chr5:112388000-112391400	Strong transcription	Esophagus	oesophagus
43	chr5:112388200-112391200	Strong transcription	NHEK	skin
44	chr5:112388200-112391400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:112388200-112394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:112388400-112390800	Strong transcription	Fetal Intestine Small	intestine
47	chr5:112388400-112391000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:112388400-112391200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:112388400-112391600	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon

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