Variant report

Variant	rs7675266
Chromosome Location	chr4:79417786-79417787
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	chr4:79416303..79418445-chr4:79420211..79422344,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10022768	0.81[ASN][1000 genomes]
rs10028402	0.81[ASN][1000 genomes]
rs1027445	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11098194	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11736198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505864	0.81[AMR][1000 genomes]
rs12508863	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12639694	0.83[AMR][1000 genomes]
rs12639734	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12640892	0.81[AMR][1000 genomes]
rs12640944	0.81[AMR][1000 genomes]
rs12643728	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12649321	0.85[AMR][1000 genomes]
rs13118549	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13146451	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13148498	0.85[AMR][1000 genomes]
rs1484333	0.91[CEU][hapmap]
rs1496605	0.81[ASN][1000 genomes]
rs1545894	0.85[AMR][1000 genomes]
rs2035510	0.82[AMR][1000 genomes]
rs2170899	0.85[AMR][1000 genomes]
rs2903471	0.81[ASN][1000 genomes]
rs34109575	0.81[AMR][1000 genomes]
rs34158026	0.81[AMR][1000 genomes]
rs34505482	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34519238	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34567325	0.81[AMR][1000 genomes]
rs35031699	0.81[AMR][1000 genomes]
rs35243121	0.81[AMR][1000 genomes]
rs35583270	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3749489	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs4975068	0.81[AMR][1000 genomes]
rs4975069	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4975117	0.84[AMR][1000 genomes]
rs4975121	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4975122	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4975124	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4975125	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4975133	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4975137	0.81[ASN][1000 genomes]
rs5021256	0.92[CEU][hapmap]
rs56149575	0.84[AMR][1000 genomes]
rs56274836	0.85[AMR][1000 genomes]
rs59048991	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62308078	0.83[AMR][1000 genomes]
rs6533669	0.85[AMR][1000 genomes]
rs6533670	0.82[AMR][1000 genomes]
rs66914138	0.85[AMR][1000 genomes]
rs67956146	0.81[AMR][1000 genomes]
rs6813790	0.81[AMR][1000 genomes]
rs6815922	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6817678	0.84[AMR][1000 genomes]
rs6824366	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6824995	0.82[AMR][1000 genomes]
rs6851427	0.81[AMR][1000 genomes]
rs6851452	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7678731	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs949506	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7675266	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
5	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
6	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
8	chr4:79402000-79427600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:79403000-79420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:79403200-79428000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79403800-79428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:79404000-79427200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:79404200-79450200	Weak transcription	HMEC	breast
15	chr4:79404400-79431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:79408600-79435000	Weak transcription	Fetal Heart	heart
17	chr4:79410200-79420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79410200-79428000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:79410200-79443600	Weak transcription	HSMMtube	muscle
20	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:79410400-79428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:79410800-79439800	Weak transcription	Fetal Lung	lung
23	chr4:79411000-79420800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:79411000-79428000	Weak transcription	Fetal Kidney	kidney
25	chr4:79411200-79420200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:79411200-79420200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79411200-79420600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:79411200-79420800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79411600-79428600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:79416000-79421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:79416200-79420600	Weak transcription	HepG2	liver
32	chr4:79417000-79418000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:79417200-79417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:79417200-79419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:79417400-79418600	Strong transcription	Fetal Intestine Large	intestine

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