Variant report

Variant	rs13171773
Chromosome Location	chr5:112335650-112335651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112325917..112328748-chr5:112331994..112335756,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12517398	0.87[EUR][1000 genomes]
rs12654474	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13156493	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13171553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13176362	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13177101	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13183347	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13186334	0.84[EUR][1000 genomes]
rs13445	0.83[EUR][1000 genomes]
rs1549182	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17312754	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4334876	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705529	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705531	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4705744	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4778	0.85[EUR][1000 genomes]
rs7670	0.82[EUR][1000 genomes]
rs9784647	0.85[EUR][1000 genomes];0.82[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
rs13171773	MCC	cis	Whole Blood	GTEx
rs13171773	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs13171773	DCP2	cis	Nerve Tibial	GTEx
rs13171773	DCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr5:112314000-112337200	Weak transcription	Lung	lung
3	chr5:112314000-112338200	Weak transcription	Gastric	stomach
4	chr5:112314200-112337000	Weak transcription	HSMMtube	muscle
5	chr5:112314200-112338200	Weak transcription	Aorta	Aorta
6	chr5:112314200-112341000	Weak transcription	Small Intestine	intestine
7	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
9	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
10	chr5:112314400-112338400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:112314800-112337200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
13	chr5:112315600-112339400	Weak transcription	Hela-S3	cervix
14	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:112316000-112337000	Weak transcription	A549	lung
16	chr5:112317000-112338200	Weak transcription	Left Ventricle	heart
17	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:112318000-112336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:112319000-112335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:112319400-112336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:112320200-112338200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:112320200-112338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:112320400-112335800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:112320600-112337200	Weak transcription	Pancreas	Pancrea
28	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
32	chr5:112322200-112341000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
34	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
35	chr5:112324800-112336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112326000-112336800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:112326800-112337000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:112327400-112340600	Strong transcription	Primary B cells from cord blood	blood
40	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:112328800-112341800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:112330000-112335800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:112330200-112335800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:112330200-112337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:112330200-112338200	Weak transcription	Spleen	Spleen
47	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:112330400-112336400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:112330400-112336800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:112330600-112337000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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