Variant report

Variant	rs9760192
Chromosome Location	chr4:79468715-79468716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr4:79468470-79468762	GM12878	blood:	n/a	n/a
2	PAX5	chr4:79468482-79468751	GM12878	blood:	n/a	n/a
3	PAX5	chr4:79468515-79468809	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ANXA3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11098227	0.85[ASN][1000 genomes]
rs11098228	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098229	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11936220	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11940309	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13137102	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13142813	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17003337	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003342	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34970825	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36039411	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749482	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749485	0.94[ASN][1000 genomes]
rs3811747	0.85[ASN][1000 genomes]
rs4563523	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975143	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4975144	0.89[EUR][1000 genomes]
rs66676781	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67325389	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71611025	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9760192	ANXA3	cis	Esophagus Muscularis	GTEx
rs9760192	ANXA3	cis	Nerve Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
2	chr4:79456400-79471200	Weak transcription	Fetal Kidney	kidney
3	chr4:79457000-79471200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79458600-79471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:79462200-79468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:79463000-79472200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:79463200-79470800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:79463600-79471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:79463600-79472600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:79463800-79471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79464200-79469800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:79464800-79471200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:79464800-79472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:79467000-79472200	Weak transcription	HUVEC	blood vessel
15	chr4:79467000-79472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:79467400-79469000	Weak transcription	Placenta	Placenta
17	chr4:79467400-79472000	Weak transcription	A549	lung
18	chr4:79467400-79472200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:79467600-79471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:79467600-79472000	Weak transcription	HMEC	breast
21	chr4:79467600-79472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:79467600-79472200	Weak transcription	NHEK	skin
23	chr4:79467600-79472600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:79467800-79470800	Weak transcription	NHDF-Ad	bronchial
25	chr4:79468000-79472000	Weak transcription	Hela-S3	cervix
26	chr4:79468000-79472200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:79468000-79472600	Weak transcription	Pancreas	Pancrea

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