Variant report

Variant	rs7299653
Chromosome Location	chr12:9058993-9058994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1073159	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073160	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10842537	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11047953	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048023	0.90[EUR][1000 genomes]
rs1124402	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611106	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11613242	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11613650	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614970	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12371786	0.83[EUR][1000 genomes]
rs12814670	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815310	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1476911	0.83[EUR][1000 genomes]
rs1805732	0.83[EUR][1000 genomes]
rs1805733	0.85[EUR][1000 genomes]
rs1805736	0.86[EUR][1000 genomes]
rs1805737	0.84[EUR][1000 genomes]
rs1805745	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805761	0.81[EUR][1000 genomes]
rs1805765	0.81[EUR][1000 genomes]
rs1805784	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110193	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487462	0.90[ASN][1000 genomes]
rs7302417	0.83[EUR][1000 genomes]
rs7303776	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7306161	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306165	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311483	0.93[ASN][1000 genomes]
rs7311561	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7299653	PHC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9050800-9065600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:9055000-9060400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:9056200-9060400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:9056600-9059200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:9056600-9059400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:9056800-9059000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:9057200-9060200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:9058200-9059600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:9058200-9060600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:9058400-9059000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:9058400-9059200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:9058600-9059000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:9058600-9063600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:9058800-9059000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:9058800-9059000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:9058800-9059200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:9058800-9059400	Weak transcription	Fetal Lung	lung
18	chr12:9058800-9059800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:9058800-9059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:9058800-9059800	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:9058800-9060000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:9058800-9060400	Enhancers	Fetal Heart	heart
23	chr12:9058800-9065400	Weak transcription	Rectal Smooth Muscle	rectum

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