Variant report

Variant	rs9784647
Chromosome Location	chr5:112325869-112325870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112312686..112316155-chr5:112325860..112328052,3	K562	blood:
2	chr5:112305819..112307438-chr5:112325134..112326776,2	K562	blood:
3	chr5:112324079..112326587-chr5:112329747..112331307,2	K562	blood:
4	chr5:112325066..112326678-chr5:112327871..112329666,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1057474	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs11749921	0.84[JPT][hapmap]
rs12517398	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12654474	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156493	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13159449	0.81[ASN][1000 genomes]
rs13171553	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171773	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13176362	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13177101	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183347	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13186334	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13445	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs1363333	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs1549181	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs1549182	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312754	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17372511	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2112454	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2416300	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap]
rs3185733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs33544	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs33545	0.89[ASN][1000 genomes]
rs33548	0.89[ASN][1000 genomes]
rs33551	0.85[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs33552	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs33554	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs33557	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap]
rs33568	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs33569	0.81[JPT][hapmap]
rs3857434	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap]
rs4074190	0.81[JPT][hapmap]
rs4075350	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap]
rs4301226	0.81[JPT][hapmap]
rs4334876	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705529	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4705744	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705745	0.83[ASN][1000 genomes]
rs4705749	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs4705750	0.92[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs4705752	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4705758	0.81[JPT][hapmap]
rs4778	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6594665	0.81[JPT][hapmap]
rs6877769	0.81[JPT][hapmap]
rs6894219	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs7670	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs7701781	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs7732198	0.82[MEX][hapmap]
rs7733863	0.82[ASN][1000 genomes]
rs9122	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.84[TSI][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9784647	DCP2	cis	lymphoblastoid	seeQTL
rs9784647	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs9784647	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs9784647	MCC	cis	Whole Blood	GTEx
rs9784647	TSLP	cis	parietal	SCAN
rs9784647	MCC	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112313200-112329000	Weak transcription	Spleen	Spleen
2	chr5:112313800-112337600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:112314000-112329000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112314000-112335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112314000-112337200	Weak transcription	Lung	lung
6	chr5:112314000-112338200	Weak transcription	Gastric	stomach
7	chr5:112314200-112326800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:112314200-112328800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:112314200-112328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:112314200-112332000	Weak transcription	Fetal Kidney	kidney
11	chr5:112314200-112332000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:112314200-112337000	Weak transcription	HSMMtube	muscle
13	chr5:112314200-112338200	Weak transcription	Aorta	Aorta
14	chr5:112314200-112341000	Weak transcription	Small Intestine	intestine
15	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
17	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
18	chr5:112314400-112338400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:112314800-112332000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:112314800-112332000	Weak transcription	NHLF	lung
21	chr5:112314800-112332200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112314800-112337200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
24	chr5:112315400-112330800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:112315600-112328600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:112315600-112332000	Weak transcription	NHDF-Ad	bronchial
27	chr5:112315600-112332200	Weak transcription	Ovary	ovary
28	chr5:112315600-112339400	Weak transcription	Hela-S3	cervix
29	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:112315800-112329200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:112315800-112334600	Weak transcription	Brain Germinal Matrix	brain
32	chr5:112316000-112332200	Weak transcription	Fetal Brain Female	brain
33	chr5:112316000-112337000	Weak transcription	A549	lung
34	chr5:112316400-112330000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:112316600-112326600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:112316600-112330000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:112316800-112326200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:112317000-112332000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:112317000-112338200	Weak transcription	Left Ventricle	heart
40	chr5:112317800-112328400	Weak transcription	Osteobl	bone
41	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:112318000-112329600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:112318000-112336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:112318400-112329000	Weak transcription	NHEK	skin
45	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:112318600-112328400	Weak transcription	NH-A	brain
47	chr5:112319000-112332000	Weak transcription	HMEC	breast
48	chr5:112319000-112335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:112319200-112328800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:112319400-112326000	Strong transcription	Primary B cells from cord blood	blood

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