Variant report

Variant	rs4651072
Chromosome Location	chr1:180564351-180564352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10798783	0.94[ASN][1000 genomes]
rs3915572	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7519155	0.91[AFR][1000 genomes];0.96[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv825520	chr1:180562677-180564787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180561600-180564800	Enhancers	Pancreas	Pancrea
2	chr1:180562000-180564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:180562200-180564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180562200-180564800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:180562200-180565000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:180563600-180564400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:180563600-180564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:180563600-180567200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:180563800-180564400	Enhancers	Fetal Brain Female	brain
10	chr1:180563800-180564800	Enhancers	A549	lung
11	chr1:180564000-180564400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:180564000-180564400	Enhancers	Left Ventricle	heart
13	chr1:180564000-180564400	Flanking Active TSS	K562	blood
14	chr1:180564200-180564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:180564200-180564800	Enhancers	Right Atrium	heart
16	chr1:180564200-180567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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