Variant report

Variant	rs17123492
Chromosome Location	chr1:62804207-62804208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62796227..62800204-chr1:62803015..62806082,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17123363	1.00[AMR][1000 genomes]
rs17123443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv871893	chr1:62767953-62819067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv525191	chr1:62773703-62804719	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62801200-62804800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62801200-62805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:62801400-62805400	Enhancers	Fetal Muscle Trunk	muscle
4	chr1:62801600-62805400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:62802200-62804600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:62802200-62805000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62802200-62805000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr1:62802400-62804400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:62802400-62804400	Enhancers	Right Atrium	heart
10	chr1:62802400-62804400	Enhancers	Spleen	Spleen
11	chr1:62802400-62804600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:62802400-62804600	Enhancers	Placenta	Placenta
13	chr1:62802400-62804800	Enhancers	Left Ventricle	heart
14	chr1:62802400-62805000	Enhancers	Fetal Heart	heart
15	chr1:62802400-62805200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:62802400-62805200	Enhancers	Fetal Stomach	stomach
17	chr1:62802600-62805200	Enhancers	Fetal Lung	lung
18	chr1:62802800-62804400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:62803200-62804400	Enhancers	Brain Hippocampus Middle	brain
20	chr1:62803200-62804600	Flanking Active TSS	HepG2	liver
21	chr1:62803400-62804400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:62803400-62804400	Enhancers	Brain Substantia Nigra	brain
23	chr1:62803400-62804600	Enhancers	Adipose Nuclei	Adipose
24	chr1:62804000-62804600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:62804000-62805000	Weak transcription	Right Ventricle	heart
26	chr1:62804000-62807000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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