Variant report

Variant	rs60149264
Chromosome Location	chr7:70599227-70599228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11762382	0.80[ASN][1000 genomes]
rs12673981	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699002	0.80[ASN][1000 genomes]
rs57272424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59565483	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61741535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460638	0.83[EUR][1000 genomes]
rs6943597	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963065	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977976	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:4 , 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
4	esv3377653	chr7:70596541-70599389	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
4	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
5	chr7:70596800-70599400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:70597800-70599400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:70598200-70599400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr7:70598600-70599400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
10	chr7:70598800-70599600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:70598800-70599600	Enhancers	Fetal Heart	heart
12	chr7:70598800-70599800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:70598800-70600200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70598800-70605000	Weak transcription	Aorta	Aorta
15	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:70599000-70599400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:70599000-70599400	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr7:70599000-70599400	Active TSS	Ovary	ovary
19	chr7:70599000-70599600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr7:70599000-70599600	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:70599000-70599600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr7:70599000-70599600	Enhancers	Pancreas	Pancrea
23	chr7:70599000-70599800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:70599000-70600400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:70599200-70599400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr7:70599200-70599400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:70599200-70599400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:70599200-70599400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:70599200-70599600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:70599200-70600400	Weak transcription	Left Ventricle	heart
32	chr7:70599200-70600400	Weak transcription	Right Ventricle	heart
33	chr7:70599200-70601200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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