Variant report

Variant	rs55651430
Chromosome Location	chr3:118922403-118922404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118916389..118918845-chr3:118921672..118924388,2	MCF-7	breast:
2	chr3:118922153..118924777-chr3:118944047..118945599,2	K562	blood:

Variant related genes	Relation type
ENSG00000240254	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12630690	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12632242	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12637159	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13077850	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13078534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098335	0.94[EUR][1000 genomes]
rs1584398	0.90[EUR][1000 genomes]
rs2594728	0.90[EUR][1000 genomes]
rs2594729	0.90[EUR][1000 genomes]
rs34549395	0.93[EUR][1000 genomes]
rs35625431	0.94[EUR][1000 genomes]
rs41271389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234657	0.93[EUR][1000 genomes]
rs4314161	0.94[EUR][1000 genomes]
rs4422293	0.93[EUR][1000 genomes]
rs4422294	0.94[EUR][1000 genomes]
rs4528932	0.93[EUR][1000 genomes]
rs4547690	0.94[EUR][1000 genomes]
rs4591498	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4603947	0.93[EUR][1000 genomes]
rs6438504	0.81[EUR][1000 genomes]
rs6438508	0.94[EUR][1000 genomes]
rs67180858	0.89[EUR][1000 genomes]
rs67395904	0.80[EUR][1000 genomes]
rs6778091	0.94[EUR][1000 genomes]
rs7610070	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7612800	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7612846	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7622158	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
2	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118904600-118936400	Weak transcription	Gastric	stomach
4	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
5	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:118913800-118922600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:118914200-118923800	Weak transcription	Stomach Mucosa	stomach
8	chr3:118915000-118924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:118915000-118925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:118915200-118922800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:118915200-118924000	Weak transcription	NHEK	skin
12	chr3:118915200-118928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:118917800-118925200	Weak transcription	Left Ventricle	heart
15	chr3:118919000-118925600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:118919400-118922600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:118919400-118922600	Strong transcription	A549	lung
18	chr3:118920400-118930400	Weak transcription	Fetal Kidney	kidney
19	chr3:118921000-118928000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:118921400-118931200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:118922200-118927400	Weak transcription	HSMM	muscle
22	chr3:118922400-118922600	ZNF genes & repeats	Spleen	Spleen
23	chr3:118922400-118923200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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