Variant report

Variant	rs56908498
Chromosome Location	chr1:62706640-62706641
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62679033..62681110-chr1:62704985..62707822,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17123220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123225	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079050	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62699000-62706800	Weak transcription	Pancreas	Pancrea
2	chr1:62701000-62707400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:62701000-62710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:62701400-62709400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62702200-62706800	Weak transcription	Liver	Liver
6	chr1:62703800-62707000	Weak transcription	Fetal Kidney	kidney
7	chr1:62704000-62710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:62704000-62711400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
10	chr1:62704200-62706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:62704200-62706800	Weak transcription	HSMMtube	muscle
12	chr1:62704200-62711600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:62704200-62712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:62704400-62713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:62706000-62708800	Enhancers	Fetal Stomach	stomach
16	chr1:62706400-62706800	Enhancers	HepG2	liver
17	chr1:62706400-62707200	Enhancers	HMEC	breast
18	chr1:62706400-62707400	Enhancers	A549	lung
19	chr1:62706400-62707800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:62706400-62707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:62706400-62707800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:62706400-62708000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:62706400-62708400	Enhancers	Placenta	Placenta
24	chr1:62706400-62713200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:62706600-62706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:62706600-62707000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:62706600-62707000	Enhancers	Hela-S3	cervix
28	chr1:62706600-62707600	Enhancers	HSMM	muscle
29	chr1:62706600-62707800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:62706600-62707800	Enhancers	Fetal Lung	lung
31	chr1:62706600-62708000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:62706600-62708000	Enhancers	Fetal Heart	heart

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