Variant report

Variant	rs4705529
Chromosome Location	chr5:112329063-112329064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112328300..112329801-chr5:112353472..112355961,2	MCF-7	breast:
2	chr5:112325066..112326678-chr5:112327871..112329666,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12517398	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12654474	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156493	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13159449	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13171553	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171773	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13176362	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13177101	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183347	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13186334	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13445	0.81[EUR][1000 genomes]
rs1549182	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17312754	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17372511	0.87[EUR][1000 genomes]
rs2112454	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs33544	0.90[ASN][1000 genomes]
rs33545	0.90[ASN][1000 genomes]
rs33548	0.90[ASN][1000 genomes]
rs33559	0.81[ASN][1000 genomes]
rs3857434	0.86[EUR][1000 genomes]
rs4075350	0.84[EUR][1000 genomes]
rs4334876	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705744	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705745	0.83[ASN][1000 genomes]
rs4705749	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705750	0.83[EUR][1000 genomes]
rs4705752	0.86[EUR][1000 genomes]
rs4778	0.81[EUR][1000 genomes]
rs6869100	0.88[EUR][1000 genomes]
rs7670	0.80[EUR][1000 genomes]
rs7701781	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7733863	0.82[ASN][1000 genomes]
rs9122	0.86[EUR][1000 genomes]
rs9784647	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4705529	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs4705529	MCC	cis	Whole Blood	GTEx
rs4705529	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs4705529	DCP2	cis	Nerve Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112313800-112337600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112314000-112335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112314000-112337200	Weak transcription	Lung	lung
4	chr5:112314000-112338200	Weak transcription	Gastric	stomach
5	chr5:112314200-112332000	Weak transcription	Fetal Kidney	kidney
6	chr5:112314200-112332000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:112314200-112337000	Weak transcription	HSMMtube	muscle
8	chr5:112314200-112338200	Weak transcription	Aorta	Aorta
9	chr5:112314200-112341000	Weak transcription	Small Intestine	intestine
10	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
12	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
13	chr5:112314400-112338400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:112314800-112332000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:112314800-112332000	Weak transcription	NHLF	lung
16	chr5:112314800-112332200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112314800-112337200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
19	chr5:112315400-112330800	Weak transcription	Brain Anterior Caudate	brain
20	chr5:112315600-112332000	Weak transcription	NHDF-Ad	bronchial
21	chr5:112315600-112332200	Weak transcription	Ovary	ovary
22	chr5:112315600-112339400	Weak transcription	Hela-S3	cervix
23	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:112315800-112329200	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:112315800-112334600	Weak transcription	Brain Germinal Matrix	brain
26	chr5:112316000-112332200	Weak transcription	Fetal Brain Female	brain
27	chr5:112316000-112337000	Weak transcription	A549	lung
28	chr5:112316400-112330000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:112316600-112330000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:112317000-112332000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:112317000-112338200	Weak transcription	Left Ventricle	heart
32	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:112318000-112329600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:112318000-112336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:112319000-112332000	Weak transcription	HMEC	breast
37	chr5:112319000-112335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:112319400-112336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:112319800-112330200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:112319800-112332000	Weak transcription	Fetal Brain Male	brain
41	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:112320200-112329400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:112320200-112338200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:112320200-112338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:112320400-112329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:112320400-112333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:112320400-112335800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:112320600-112337200	Weak transcription	Pancreas	Pancrea
50	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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