Variant report

Variant	rs7532247
Chromosome Location	chr1:166838075-166838076
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POGK-1	chr1:166837985-166838446	NONHSAT007368

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1053407	0.82[EUR][1000 genomes]
rs10800269	0.83[AMR][1000 genomes]
rs10800271	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10800273	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10800275	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10918586	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10918587	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11582566	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12029327	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12029367	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12032642	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12039764	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12122547	0.85[AMR][1000 genomes]
rs1476348	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1476349	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1476350	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17331024	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2013526	0.82[EUR][1000 genomes]
rs2014854	0.82[EUR][1000 genomes]
rs2075947	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2232521	0.82[AMR][1000 genomes]
rs2272793	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2312238	0.82[EUR][1000 genomes]
rs2837	0.87[EUR][1000 genomes]
rs35622400	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3738209	0.81[AMR][1000 genomes]
rs3753910	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4657607	0.86[AMR][1000 genomes]
rs61408535	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6427038	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6427046	0.81[EUR][1000 genomes]
rs6675033	0.83[AMR][1000 genomes]
rs6675750	0.84[AMR][1000 genomes]
rs6677387	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6688277	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690192	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6691431	0.86[AMR][1000 genomes]
rs742006	0.84[AMR][1000 genomes]
rs7531189	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7552562	0.88[EUR][1000 genomes]
rs760537	0.80[AFR][1000 genomes];0.87[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7532247	DUTP6	cis	Esophagus Muscularis	GTEx
rs7532247	MAEL	cis	Esophagus Muscularis	GTEx
rs7532247	MAEL	cis	Nerve Tibial	GTEx
rs7532247	DUTP6	cis	Artery Aorta	GTEx
rs7532247	DUTP6	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
6	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
11	chr1:166813200-166840600	Strong transcription	Dnd41	blood
12	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
16	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
21	chr1:166819600-166838400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
23	chr1:166824600-166838200	Strong transcription	Fetal Intestine Small	intestine
24	chr1:166825000-166844400	Weak transcription	HSMMtube	muscle
25	chr1:166825600-166839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:166825800-166838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:166827000-166840800	Weak transcription	Psoas Muscle	Psoas
28	chr1:166828600-166838400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:166829200-166838400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:166829200-166843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:166829200-166844200	Weak transcription	Fetal Heart	heart
32	chr1:166829200-166844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:166829400-166840600	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:166831000-166841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:166831200-166838400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:166831600-166838600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:166831600-166838600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:166831600-166839200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:166831600-166841800	Weak transcription	Esophagus	oesophagus
40	chr1:166831600-166844600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:166831800-166839200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:166831800-166844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:166831800-166844400	Weak transcription	Fetal Kidney	kidney
44	chr1:166832400-166838600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:166833200-166838400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:166833400-166838200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:166833400-166838200	Strong transcription	Right Ventricle	heart
48	chr1:166833800-166838400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:166833800-166839200	Weak transcription	Pancreas	Pancrea
50	chr1:166834000-166839200	Weak transcription	Ovary	ovary

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