Variant report

Variant	rs748083
Chromosome Location	chr5:177775559-177775560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:177775092-177778924	SK-N-SH	brain:	n/a	chr5:177777626-177777640 chr5:177775152-177775161

No.	Distal block	Cell Line	Cell type
1	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:
2	chr5:177722533..177724102-chr5:177775070..177777242,2	K562	blood:
3	chr5:177770218..177772019-chr5:177775169..177777539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253698	TF binding region
ENSG00000271681	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17580218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17641413	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2913800	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2913801	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2913802	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2913803	0.84[AMR][1000 genomes]
rs2973685	0.88[CHB][hapmap]
rs2973805	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34688771	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6862908	0.84[AMR][1000 genomes]
rs6877633	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs751181	0.82[AMR][1000 genomes]
rs7708757	0.85[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
5	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv883205	chr5:177684682-177777888	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv883206	chr5:177684682-177796121	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1027165	chr5:177693601-177843314	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:177759400-177783400	Weak transcription	Right Atrium	heart
2	chr5:177768200-177783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:177769600-177783200	Weak transcription	Fetal Thymus	thymus
4	chr5:177773200-177775600	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:177773400-177775600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:177775000-177776000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:177775000-177776000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177775000-177776000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:177775000-177776000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:177775000-177776400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:177775000-177776400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:177775000-177779200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr5:177775200-177775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:177775200-177776200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:177775200-177776200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:177775200-177776400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr5:177775200-177777200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177775400-177775600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:177775400-177775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:177775400-177775600	Enhancers	Brain Anterior Caudate	brain
21	chr5:177775400-177775600	Enhancers	Brain Substantia Nigra	brain
22	chr5:177775400-177775600	Enhancers	Spleen	Spleen
23	chr5:177775400-177776000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:177775400-177776000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:177775400-177776200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:177775400-177778600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr5:177775400-177779200	Strong transcription	Thymus	Thymus

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