Variant report

Variant	rs7718055
Chromosome Location	chr5:177644252-177644253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11747964	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56727222	1.00[ASN][1000 genomes]
rs57358849	1.00[ASN][1000 genomes]
rs57594195	0.95[ASN][1000 genomes]
rs58209854	1.00[ASN][1000 genomes]
rs61473059	0.95[ASN][1000 genomes]
rs6881230	0.85[ASN][1000 genomes]
rs6887384	0.91[ASN][1000 genomes]
rs6899207	0.85[ASN][1000 genomes]
rs73351260	1.00[ASN][1000 genomes]
rs7707147	0.91[ASN][1000 genomes]
rs7719034	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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	106 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv3425423	chr5:177643496-177648394	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
2	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
3	chr5:177634600-177644400	Strong transcription	Fetal Lung	lung
4	chr5:177634600-177646000	Strong transcription	Thymus	Thymus
5	chr5:177634800-177645800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:177635000-177647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:177635000-177650200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:177635000-177650400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:177635000-177650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:177635000-177650400	Strong transcription	Adipose Nuclei	Adipose
11	chr5:177635200-177644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:177635200-177644400	Strong transcription	HUVEC	blood vessel
13	chr5:177635200-177644800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:177635200-177645400	Strong transcription	Fetal Brain Female	brain
15	chr5:177635200-177646000	Strong transcription	NH-A	brain
16	chr5:177635400-177644600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:177635400-177644800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:177635400-177646200	Strong transcription	Osteobl	bone
19	chr5:177635400-177646400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr5:177635400-177649200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:177635400-177651000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:177635600-177644400	Strong transcription	HSMM	muscle
23	chr5:177635800-177657000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:177636000-177648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:177636000-177654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:177637200-177644400	Strong transcription	Brain Germinal Matrix	brain
27	chr5:177637200-177644600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:177637600-177644400	Strong transcription	A549	lung
29	chr5:177639400-177657600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:177640000-177648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:177640000-177650400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:177640200-177644800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:177640400-177644400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:177640400-177644600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:177640400-177655600	Weak transcription	Right Atrium	heart
36	chr5:177640800-177645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:177641000-177644600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:177641000-177650800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:177641600-177648400	Weak transcription	Small Intestine	intestine
40	chr5:177642000-177644400	Strong transcription	Fetal Muscle Leg	muscle
41	chr5:177642000-177645800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:177642600-177644400	Strong transcription	Lung	lung
43	chr5:177642600-177644400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:177642600-177644400	Strong transcription	Right Ventricle	heart
45	chr5:177642600-177644600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:177642600-177646200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:177642600-177654200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:177642800-177647600	Weak transcription	K562	blood
49	chr5:177642800-177648200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:177643000-177645400	Weak transcription	Hela-S3	cervix

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