Variant report

Variant	rs56370685
Chromosome Location	chr5:115691644-115691645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115685651..115688638-chr5:115690874..115693480,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17139524	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17139532	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663230	0.94[ASN][1000 genomes]
rs55742067	0.87[ASN][1000 genomes]
rs55857351	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56168251	0.84[AMR][1000 genomes]
rs56317742	0.94[ASN][1000 genomes]
rs57209700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58776100	0.84[AMR][1000 genomes]
rs72808945	0.81[ASN][1000 genomes]
rs72808952	0.82[ASN][1000 genomes]
rs72808958	0.87[ASN][1000 genomes]
rs72808959	0.87[ASN][1000 genomes]
rs72808960	0.88[ASN][1000 genomes]
rs72808961	0.94[ASN][1000 genomes]
rs72808964	0.88[ASN][1000 genomes]
rs72808969	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808973	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808976	0.84[AMR][1000 genomes]
rs72808977	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72808978	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72808979	0.84[AMR][1000 genomes]
rs72808984	0.84[AMR][1000 genomes]
rs73266818	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
2	chr5:115680000-115693200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:115680600-115695800	Weak transcription	Ovary	ovary
4	chr5:115684400-115694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:115686400-115692000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
11	chr5:115686600-115693800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:115687200-115693400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:115687200-115706400	Weak transcription	Liver	Liver
15	chr5:115687800-115691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:115687800-115693400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:115687800-115694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
19	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:115688600-115695000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:115689200-115693800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:115689200-115693800	Weak transcription	Left Ventricle	heart
25	chr5:115689200-115694000	Weak transcription	Primary B cells from cord blood	blood
26	chr5:115689400-115694200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
28	chr5:115690400-115693800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:115691400-115691800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr5:115691400-115692200	Enhancers	Rectal Mucosa Donor 31	rectum

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