Variant report

Variant	rs9326869
Chromosome Location	chr5:112349070-112349071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10059599	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12516502	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12719155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2052484	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080896	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2080897	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2112452	0.94[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2112453	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2416301	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs33543	0.82[GIH][hapmap];0.80[MEX][hapmap]
rs33550	0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs33553	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs33556	0.80[MEX][hapmap]
rs33563	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs33565	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs3733969	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3857433	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4260660	0.94[JPT][hapmap]
rs4705530	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705532	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705533	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4705743	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705746	0.84[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705751	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705754	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs59147465	0.85[EUR][1000 genomes]
rs59265685	0.85[EUR][1000 genomes]
rs59664033	0.83[EUR][1000 genomes]
rs6594659	0.94[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs6892724	0.82[JPT][hapmap]
rs7447818	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs7718810	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7721666	0.86[EUR][1000 genomes]
rs878073	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs878076	0.84[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs882253	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs888844	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs959949	0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]

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	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	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	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
4	nsv964923	chr5:112349068-112350764	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9326869	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs9326869	DCP2	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
3	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
4	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
14	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
15	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
16	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112332400-112352400	Strong transcription	Dnd41	blood
21	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
23	chr5:112332800-112352200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:112333000-112349400	Weak transcription	NHLF	lung
25	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
27	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
28	chr5:112334200-112350400	Strong transcription	Fetal Intestine Large	intestine
29	chr5:112334200-112350400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:112334200-112352600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:112334800-112352200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:112335600-112350200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:112335600-112353200	Strong transcription	Fetal Thymus	thymus
34	chr5:112335800-112350600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr5:112335800-112351000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:112336400-112350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:112336400-112350800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
39	chr5:112339200-112349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
41	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:112339400-112362000	Weak transcription	Gastric	stomach
43	chr5:112339800-112349400	Weak transcription	Thymus	Thymus
44	chr5:112339800-112349600	Weak transcription	Spleen	Spleen
45	chr5:112339800-112349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:112340600-112349600	Weak transcription	HMEC	breast
50	chr5:112341600-112349200	Weak transcription	Fetal Kidney	kidney

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