Variant report

Variant	rs58548699
Chromosome Location	chr1:62750786-62750787
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	chr1:62750576..62752122-chr1:62863647..62866549,2	K562	blood:
2	chr1:62750494..62753386-chr1:62754498..62756263,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10493319	0.95[EUR][1000 genomes]
rs17123324	0.89[EUR][1000 genomes]
rs17123341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076464	1.00[EUR][1000 genomes]
rs74076477	0.81[EUR][1000 genomes]
rs74076479	0.95[EUR][1000 genomes]
rs7521016	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62734200-62750800	Weak transcription	Gastric	stomach
2	chr1:62738200-62751200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:62744800-62750800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:62747200-62751600	Weak transcription	Liver	Liver
5	chr1:62747600-62751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:62748000-62751800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:62748400-62750800	Weak transcription	HMEC	breast
8	chr1:62748400-62752400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:62748800-62751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:62748800-62751600	Enhancers	Fetal Stomach	stomach
11	chr1:62749000-62751600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62749000-62751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:62749000-62751800	Enhancers	HepG2	liver
14	chr1:62749000-62753000	Enhancers	Fetal Lung	lung
15	chr1:62749400-62751000	Weak transcription	Brain Anterior Caudate	brain
16	chr1:62749400-62751600	Weak transcription	Placenta	Placenta
17	chr1:62749400-62751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:62749600-62751600	Weak transcription	Fetal Heart	heart
19	chr1:62750000-62751800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:62750000-62752000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:62750200-62751600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:62750200-62751800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:62750200-62752000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:62750400-62750800	Bivalent Enhancer	Fetal Kidney	kidney
25	chr1:62750600-62751600	Enhancers	Pancreas	Pancrea

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