Variant report

Variant	rs4705744
Chromosome Location	chr5:112330738-112330739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112255892..112258052-chr5:112329081..112331628,2	MCF-7	breast:
2	chr5:112324079..112326587-chr5:112329747..112331307,2	K562	blood:
3	chr5:112330272..112333699-chr5:112335984..112338498,3	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12517398	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654474	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156493	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13159449	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13171553	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171773	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13176362	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13177101	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183347	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13186334	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13445	0.82[EUR][1000 genomes]
rs1549181	0.80[EUR][1000 genomes]
rs1549182	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17312754	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17372511	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2112454	0.88[ASN][1000 genomes]
rs33544	0.87[ASN][1000 genomes]
rs33545	0.87[ASN][1000 genomes]
rs33548	0.87[ASN][1000 genomes]
rs3857434	0.89[EUR][1000 genomes]
rs4075350	0.87[EUR][1000 genomes]
rs4334876	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705529	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705745	0.86[ASN][1000 genomes]
rs4705749	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705750	0.86[EUR][1000 genomes]
rs4705752	0.89[EUR][1000 genomes]
rs4778	0.84[EUR][1000 genomes]
rs6869100	0.89[EUR][1000 genomes]
rs7670	0.81[EUR][1000 genomes]
rs7701781	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9122	0.89[EUR][1000 genomes]
rs9784647	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[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
rs4705744	MCC	cis	Whole Blood	GTEx
rs4705744	DCP2	cis	Nerve Tibial	GTEx
rs4705744	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs4705744	DCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr5:112315800-112334600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:112316000-112332200	Weak transcription	Fetal Brain Female	brain
26	chr5:112316000-112337000	Weak transcription	A549	lung
27	chr5:112317000-112332000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:112317000-112338200	Weak transcription	Left Ventricle	heart
29	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:112318000-112336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:112319000-112332000	Weak transcription	HMEC	breast
33	chr5:112319000-112335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:112319400-112336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112319800-112332000	Weak transcription	Fetal Brain Male	brain
36	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:112320200-112338200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:112320200-112338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:112320400-112333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:112320400-112335800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:112320600-112337200	Weak transcription	Pancreas	Pancrea
43	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
47	chr5:112321800-112333800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:112322200-112341000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
50	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus

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