Variant report

Variant	rs57272424
Chromosome Location	chr7:70602605-70602606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11762382	0.80[ASN][1000 genomes]
rs12673981	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699002	0.80[ASN][1000 genomes]
rs59565483	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60149264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61741535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460638	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6943597	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977976	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706757	0.89[EUR][1000 genomes];0.87[ASN][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:29 , 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	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:70599400-70605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:70599400-70605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:70599600-70605000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70599600-70605200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:70599600-70609400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:70599600-70611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:70599800-70605000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:70601000-70604200	Weak transcription	Spleen	Spleen
13	chr7:70601000-70605000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:70601000-70613600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:70601200-70605000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:70601200-70605200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:70601200-70605200	Weak transcription	Right Ventricle	heart
18	chr7:70601200-70610200	Weak transcription	Ovary	ovary
19	chr7:70601400-70602800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:70601400-70604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:70601400-70604800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:70601400-70605000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:70601400-70605200	Weak transcription	Pancreas	Pancrea
24	chr7:70601400-70605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:70601600-70605200	Weak transcription	Left Ventricle	heart
26	chr7:70601800-70604200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:70602200-70605200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:70602600-70603200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:70602600-70603200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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