Variant report

Variant	rs10257473
Chromosome Location	chr7:86510712-86510713
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86509621..86512432-chr7:86514606..86517282,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1014634	0.95[EUR][1000 genomes]
rs10232633	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10236047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236910	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10258008	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10267763	0.95[EUR][1000 genomes]
rs10271867	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11974622	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11976876	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11979332	0.94[EUR][1000 genomes]
rs11981220	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12113681	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1476455	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557665	0.94[EUR][1000 genomes]
rs17161070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17161096	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17697806	0.88[ASN][1000 genomes]
rs17697878	0.95[EUR][1000 genomes]
rs17697894	0.94[EUR][1000 genomes]
rs17765493	0.95[EUR][1000 genomes]
rs2299231	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2373361	0.95[EUR][1000 genomes]
rs28490267	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28583791	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28635668	0.94[EUR][1000 genomes]
rs61082072	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6965029	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73382375	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73382388	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73382401	0.85[EUR][1000 genomes]
rs73384105	0.85[EUR][1000 genomes]
rs7783745	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810135	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9640574	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr7:86481400-86525800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:86495200-86542000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:86495800-86550000	Weak transcription	Lung	lung
4	chr7:86497000-86517800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:86497200-86516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:86497400-86518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:86498200-86517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:86498600-86517600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:86498600-86518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:86499800-86518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:86503800-86526600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:86504000-86521600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:86506200-86517200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:86506600-86526400	Weak transcription	Left Ventricle	heart
16	chr7:86507000-86553200	Weak transcription	Pancreas	Pancrea
17	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
18	chr7:86507600-86520200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:86507600-86525600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:86508000-86551200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
23	chr7:86508400-86520400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:86508400-86525600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:86508800-86542200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:86510200-86516000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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