Variant report

Variant	rs17147387
Chromosome Location	chr7:124365263-124365264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10232352	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255032	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11762579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111991	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524767	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17147398	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141072	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4281050	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285424	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970945	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73221479	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73221481	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs983747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr7:124363000-124365400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:124363200-124365600	Enhancers	HepG2	liver
3	chr7:124363400-124365400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:124363800-124365400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:124363800-124365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:124363800-124365400	Enhancers	Liver	Liver
7	chr7:124363800-124368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:124364200-124365600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:124364200-124365800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:124364200-124365800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:124364200-124366000	Active TSS	Brain Hippocampus Middle	brain
12	chr7:124364400-124365800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:124364400-124366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:124364600-124365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:124364600-124365400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:124364600-124365400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:124364600-124365400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:124364600-124365600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:124364800-124369600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:124365000-124365400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:124365000-124365400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:124365000-124365600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:124365000-124365800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:124365200-124365400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:124365200-124365600	Active TSS	Brain Anterior Caudate	brain
26	chr7:124365200-124365800	Active TSS	Brain Angular Gyrus	brain

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