Variant report

Variant	rs4771639
Chromosome Location	chr13:110390980-110390981
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110387460..110391261-chr13:110433185..110436412,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004408	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618342	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11618350	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11618355	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11842277	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12586052	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1550039	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550040	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550045	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771640	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771641	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771642	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773075	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4773077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773079	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492223	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7324369	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9515111	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9515114	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9515115	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9521496	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521498	0.82[AMR][1000 genomes]
rs9521500	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555629	0.82[AMR][1000 genomes]
rs9559632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559637	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9634582	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634583	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110386000-110396200	Weak transcription	Gastric	stomach
2	chr13:110386200-110393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:110388600-110392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:110388800-110391000	Enhancers	Fetal Heart	heart
5	chr13:110388800-110392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:110388800-110392600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:110389000-110395600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:110389400-110391800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:110389600-110391000	Weak transcription	Right Ventricle	heart
10	chr13:110389600-110391200	Enhancers	HSMMtube	muscle
11	chr13:110389800-110391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:110390000-110391000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:110390000-110391200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:110390200-110396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:110390200-110396800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:110390400-110391000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110390400-110391200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:110390400-110391200	Enhancers	Placenta	Placenta
19	chr13:110390400-110396200	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:110390400-110396400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr13:110390600-110391000	Enhancers	Esophagus	oesophagus
22	chr13:110390600-110392600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:110390600-110395600	Weak transcription	Dnd41	blood
24	chr13:110390600-110396000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:110390600-110396400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:110390800-110391200	Enhancers	NHEK	skin
27	chr13:110390800-110391800	Enhancers	HMEC	breast
28	chr13:110390800-110402200	Weak transcription	HSMM	muscle

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