Variant report

Variant	rs73348177
Chromosome Location	chr5:177546348-177546349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57921588..57924164-chr5:177545029..177548240,3	MCF-7	breast:
2	chr5:177545145..177547766-chr5:177633548..177635586,2	K562	blood:
3	chr5:177544302..177547027-chr5:177629506..177633017,3	K562	blood:
4	chr5:177526479..177529448-chr5:177545070..177546800,2	K562	blood:

Variant related genes	Relation type
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11951603	1.00[AMR][1000 genomes]
rs57559233	1.00[AMR][1000 genomes]
rs57947175	1.00[AMR][1000 genomes]
rs59922179	1.00[AMR][1000 genomes]
rs60772567	1.00[AMR][1000 genomes]
rs61577981	1.00[AMR][1000 genomes]
rs73338853	1.00[AMR][1000 genomes]
rs73348139	1.00[AMR][1000 genomes]
rs73348150	1.00[AMR][1000 genomes]
rs73348160	1.00[AMR][1000 genomes]
rs73348182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348185	1.00[AMR][1000 genomes]
rs73348192	1.00[AMR][1000 genomes]
rs73348194	1.00[AMR][1000 genomes]
rs73348199	1.00[AMR][1000 genomes]
rs73349806	1.00[AMR][1000 genomes]
rs73349889	1.00[AMR][1000 genomes]
rs73351244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177541800-177557200	Weak transcription	Right Atrium	heart
2	chr5:177542000-177546600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:177542000-177549600	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:177542200-177547000	Weak transcription	NHEK	skin
5	chr5:177542400-177547000	Enhancers	Spleen	Spleen
6	chr5:177542600-177546400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:177542600-177551000	Weak transcription	Gastric	stomach
8	chr5:177543000-177547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:177543200-177546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:177543200-177546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:177543600-177546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:177543800-177546800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:177543800-177547000	Enhancers	HUVEC	blood vessel
14	chr5:177543800-177548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:177544000-177546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:177544200-177546400	Enhancers	Fetal Muscle Trunk	muscle
17	chr5:177544200-177546600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:177544200-177548200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr5:177544400-177546400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:177544400-177546600	Enhancers	Placenta	Placenta
21	chr5:177544400-177546800	Weak transcription	Fetal Heart	heart
22	chr5:177544400-177548200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:177544400-177548200	Weak transcription	Pancreas	Pancrea
24	chr5:177544400-177549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:177544600-177547800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:177544600-177547800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:177544600-177552200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177544800-177547600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:177545000-177547400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:177545000-177547600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:177545000-177547600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:177545200-177547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:177545200-177547600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr5:177545200-177552000	Enhancers	Fetal Thymus	thymus
35	chr5:177545400-177546600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:177545400-177546600	Weak transcription	Right Ventricle	heart
37	chr5:177545400-177547000	Weak transcription	HSMMtube	muscle
38	chr5:177545400-177547600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:177545400-177547600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:177545400-177547600	Weak transcription	Thymus	Thymus
41	chr5:177545400-177547600	Weak transcription	Dnd41	blood
42	chr5:177545400-177547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:177545400-177547800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:177545400-177548200	Weak transcription	Left Ventricle	heart
45	chr5:177545400-177548600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:177545400-177549800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:177545600-177546400	Weak transcription	Lung	lung
48	chr5:177545600-177546600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:177545600-177546600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:177545600-177546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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