Variant report

Variant	rs9385422
Chromosome Location	chr6:127716457-127716458
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	chr6:127711114..127713899-chr6:127714638..127717636,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1543432	0.84[AFR][1000 genomes]
rs4285343	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4308584	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371861	0.81[EUR][1000 genomes]
rs4448121	0.84[AFR][1000 genomes]
rs4486042	0.84[AFR][1000 genomes]
rs4487601	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4555941	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4897214	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569486	0.84[AFR][1000 genomes]
rs6569487	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6569488	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912006	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912196	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912552	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912750	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6913424	0.84[AFR][1000 genomes]
rs6914131	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6916990	0.84[AFR][1000 genomes]
rs6919082	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6919277	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6924274	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6934242	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6940199	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7745944	0.84[AFR][1000 genomes]
rs7752238	0.81[AFR][1000 genomes]
rs7753913	0.84[AFR][1000 genomes]
rs7756880	0.84[AFR][1000 genomes]
rs7756884	0.84[AFR][1000 genomes]
rs7762624	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7768435	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7769165	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7773484	0.84[AFR][1000 genomes]
rs9321079	0.84[AFR][1000 genomes]
rs9321081	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9321082	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9321083	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9321084	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9321085	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375503	0.84[AFR][1000 genomes]
rs9375508	0.89[AMR][1000 genomes]
rs9385424	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9398839	0.84[AFR][1000 genomes]
rs9398840	0.84[AFR][1000 genomes]
rs9398841	0.80[AFR][1000 genomes]
rs9401951	0.84[AFR][1000 genomes]
rs9401958	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401959	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401960	0.90[AMR][1000 genomes]
rs9491775	0.82[EUR][1000 genomes]
rs9491781	0.86[AMR][1000 genomes];0.95[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	nsv604641	chr6:127657099-127719062	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9385422	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127712600-127719400	Weak transcription	Psoas Muscle	Psoas
2	chr6:127712800-127718200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:127712800-127718200	Weak transcription	Adipose Nuclei	Adipose
4	chr6:127713600-127719200	Weak transcription	Fetal Stomach	stomach
5	chr6:127713800-127718400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:127713800-127718400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:127713800-127718400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:127713800-127718400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:127714600-127718200	Weak transcription	HMEC	breast
10	chr6:127714600-127718400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:127714600-127718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:127714600-127718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:127715000-127718200	Weak transcription	NHEK	skin

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