Variant report

Variant	rs10940419
Chromosome Location	chr5:54016884-54016885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
2	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10940418	0.85[ASN][1000 genomes]
rs12520114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659390	0.81[ASN][1000 genomes]
rs12659671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823053	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2034237	0.83[ASN][1000 genomes]
rs4288089	0.84[ASN][1000 genomes]
rs4342279	0.84[ASN][1000 genomes]
rs4376219	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4865585	0.85[ASN][1000 genomes]
rs4865865	0.85[ASN][1000 genomes]
rs55774545	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56341116	0.92[EUR][1000 genomes]
rs56399530	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57433496	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57534013	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57569595	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59617154	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60146924	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735895	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7736032	0.84[ASN][1000 genomes]
rs7736999	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv965525	chr5:54010194-54018240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10940419	CSTA	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
2	chr5:54013800-54017600	Enhancers	Fetal Brain Male	brain
3	chr5:54014400-54017000	Enhancers	Fetal Muscle Leg	muscle
4	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:54015800-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:54016000-54017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:54016200-54018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:54016400-54018400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:54016400-54018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:54016400-54018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle
17	chr5:54016600-54017000	Enhancers	Aorta	Aorta
18	chr5:54016600-54018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:54016600-54018200	Weak transcription	Osteobl	bone
20	chr5:54016600-54018600	Weak transcription	NHDF-Ad	bronchial
21	chr5:54016600-54021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:54016800-54017000	Enhancers	Ovary	ovary
23	chr5:54016800-54017000	Enhancers	Right Ventricle	heart
24	chr5:54016800-54017600	Enhancers	Colon Smooth Muscle	Colon
25	chr5:54016800-54018200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:54016800-54018200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:54016800-54018600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:54016800-54021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:54016800-54021600	Weak transcription	NH-A	brain
30	chr5:54016800-54021600	Weak transcription	NHLF	lung

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