Variant report

Variant	rs4424306
Chromosome Location	chr8:66530909-66530910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10091345	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10106749	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10111844	0.88[EUR][1000 genomes]
rs10957358	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10957359	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11786598	0.81[AMR][1000 genomes]
rs13251307	0.96[CEU][hapmap]
rs13274205	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13275168	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs13280521	0.92[CEU][hapmap]
rs13281090	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs13281981	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16932237	0.95[YRI][hapmap]
rs17395275	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs17396080	0.92[CEU][hapmap]
rs2357475	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34496943	0.87[EUR][1000 genomes]
rs35411381	0.85[EUR][1000 genomes]
rs62507608	0.87[EUR][1000 genomes]
rs6472219	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7006219	0.95[YRI][hapmap]
rs7007473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007987	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7462352	0.84[EUR][1000 genomes]
rs7814342	0.96[YRI][hapmap]
rs7818909	0.93[CEU][hapmap]
rs7822627	0.86[EUR][1000 genomes]
rs7822707	0.93[CEU][hapmap]
rs7829434	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs869151	0.92[CEU][hapmap];0.85[EUR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4424306	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs4424306	CTD-3025N20.3	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
5	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
8	chr8:66517200-66532200	Weak transcription	Esophagus	oesophagus
9	chr8:66517200-66533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
13	chr8:66520000-66531600	Weak transcription	K562	blood
14	chr8:66520000-66545000	Weak transcription	NHEK	skin
15	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:66521600-66533200	Weak transcription	HMEC	breast
17	chr8:66522000-66531000	Weak transcription	Aorta	Aorta
18	chr8:66522200-66535200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:66522400-66531600	Weak transcription	Colonic Mucosa	Colon
20	chr8:66522600-66531400	Weak transcription	Right Ventricle	heart
21	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:66523600-66531200	Weak transcription	HepG2	liver
23	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
24	chr8:66525000-66531000	Weak transcription	HSMMtube	muscle
25	chr8:66525000-66531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:66525000-66531200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:66525000-66531200	Weak transcription	Spleen	Spleen
28	chr8:66525600-66531200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:66525600-66531600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:66525600-66533000	Weak transcription	Primary B cells from cord blood	blood
31	chr8:66525600-66533800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:66525600-66533800	Weak transcription	Pancreas	Pancrea
33	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
34	chr8:66525800-66531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:66526000-66531000	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:66526000-66533000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:66526000-66533200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:66526000-66537000	Weak transcription	Gastric	stomach
39	chr8:66526000-66539000	Weak transcription	NHLF	lung
40	chr8:66526400-66531600	Weak transcription	Fetal Lung	lung
41	chr8:66526600-66532800	Weak transcription	GM12878-XiMat	blood
42	chr8:66527200-66531400	Weak transcription	Brain Substantia Nigra	brain
43	chr8:66527400-66531000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:66527400-66533200	Weak transcription	HSMM	muscle
45	chr8:66527600-66531200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:66527600-66531400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:66527600-66532200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:66527600-66533000	Weak transcription	NH-A	brain
49	chr8:66527600-66535200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:66527600-66535600	Strong transcription	Lung	lung

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