Variant report

Variant	rs57766590
Chromosome Location	chr5:127330108-127330109
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	chr5:127329402..127331432-chr5:127331653..127333291,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4141241	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723104	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	nsv599665	chr5:127327649-127336709	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv511301	chr5:127327649-127337086	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
2	chr5:127297600-127332000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:127304000-127333400	Weak transcription	Primary T cells from cord blood	blood
5	chr5:127306600-127333200	Weak transcription	Psoas Muscle	Psoas
6	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:127324000-127331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:127324000-127333200	Weak transcription	Left Ventricle	heart
9	chr5:127324000-127333200	Weak transcription	Pancreas	Pancrea
10	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
11	chr5:127324200-127330800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:127324200-127332200	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:127324200-127334800	Weak transcription	K562	blood
14	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:127324400-127334400	Weak transcription	Gastric	stomach
16	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:127324400-127337400	Weak transcription	HMEC	breast
18	chr5:127324400-127337600	Weak transcription	NHEK	skin
19	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
23	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
25	chr5:127328400-127333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127329200-127330400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127329400-127330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:127329600-127333200	Weak transcription	Small Intestine	intestine
30	chr5:127329800-127330200	Weak transcription	Stomach Mucosa	stomach
31	chr5:127329800-127334800	Weak transcription	A549	lung

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