Variant report

Variant	rs73348167
Chromosome Location	chr5:177538684-177538685
allele	C/T
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	RFX5	chr5:177538620-177540122	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:

Variant related genes	Relation type
N4BP3	TF binding region
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10044002	1.00[AMR][1000 genomes]
rs13436574	1.00[AMR][1000 genomes]
rs57559233	0.87[AFR][1000 genomes]
rs59552020	1.00[AMR][1000 genomes]
rs60772567	0.87[AFR][1000 genomes]
rs73348150	0.95[AFR][1000 genomes]
rs73348160	0.91[AFR][1000 genomes]
rs73348162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348171	1.00[AMR][1000 genomes]
rs73348185	0.87[AFR][1000 genomes]
rs73348192	0.87[AFR][1000 genomes]
rs73348194	0.87[AFR][1000 genomes]
rs73349806	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1021060	chr5:177386344-177539867	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	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
8	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	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
12	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv883191	chr5:177535370-177551985	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr5:177532000-177539800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:177532400-177539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:177532400-177539800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:177532400-177539800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:177534400-177539600	Weak transcription	GM12878-XiMat	blood
6	chr5:177535800-177539800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:177535800-177539800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:177536000-177539600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:177536000-177539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:177536000-177540000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:177536000-177540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177536000-177540000	Weak transcription	Colonic Mucosa	Colon
13	chr5:177536200-177539000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:177536200-177540000	Weak transcription	Right Ventricle	heart
15	chr5:177536400-177540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:177536400-177540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:177536400-177540000	Weak transcription	NHEK	skin
20	chr5:177536400-177540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:177536400-177540200	Weak transcription	Gastric	stomach
22	chr5:177536600-177538800	Weak transcription	Hela-S3	cervix
23	chr5:177536600-177539200	Weak transcription	Fetal Heart	heart
24	chr5:177536600-177540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:177536600-177540000	Weak transcription	HMEC	breast
26	chr5:177536600-177540200	Weak transcription	Esophagus	oesophagus
27	chr5:177536600-177540200	Weak transcription	Lung	lung
28	chr5:177536800-177539600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:177536800-177539600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:177536800-177539800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:177538200-177538800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:177538200-177539800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:177538600-177540000	Enhancers	Placenta	Placenta

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