Variant report

Variant	rs62459620
Chromosome Location	chr7:70600296-70600297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4717581	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4719074	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4719075	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4719077	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5008002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62458181	1.00[EUR][1000 genomes]
rs62459587	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62459615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62459616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62459617	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62459618	0.89[ASN][1000 genomes]
rs62459619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62459621	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7807036	0.83[AMR][1000 genomes];0.85[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
2	chr7:70598800-70605000	Weak transcription	Aorta	Aorta
3	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:70599000-70600400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:70599200-70600400	Weak transcription	Left Ventricle	heart
7	chr7:70599200-70600400	Weak transcription	Right Ventricle	heart
8	chr7:70599200-70601200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr7:70599400-70601400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr7:70599400-70605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:70599400-70605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:70599600-70600400	Weak transcription	Pancreas	Pancrea
13	chr7:70599600-70600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:70599600-70600600	Weak transcription	Fetal Brain Female	brain
15	chr7:70599600-70600800	Weak transcription	Fetal Heart	heart
16	chr7:70599600-70601000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:70599600-70601400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:70599600-70605000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70599600-70605200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:70599600-70609400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:70599600-70611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:70599800-70600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:70599800-70601200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:70599800-70605000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:70600200-70601000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:70600200-70601200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:70600200-70601200	Enhancers	Ovary	ovary

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