Variant report

Variant	rs7718478
Chromosome Location	chr5:177560339-177560340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr5:177559787..177561875-chr5:177565737..177567296,2	K562	blood:
3	chr5:177559160..177561147-chr5:177631498..177633135,2	MCF-7	breast:
4	chr5:176923371..176925329-chr5:177557854..177560543,2	MCF-7	breast:
5	chr5:177558100..177560422-chr6:27113137..27116043,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196923	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10054932	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3812076	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3812081	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3935147	0.82[ASW][hapmap];0.94[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4976741	0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[MKK][hapmap]
rs57230193	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712666	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7721220	0.81[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177558800-177562200	Weak transcription	Aorta	Aorta
2	chr5:177558800-177569600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:177559000-177560400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:177559000-177560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:177559000-177560400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:177559000-177560600	Weak transcription	Fetal Stomach	stomach
8	chr5:177559000-177560800	Weak transcription	A549	lung
9	chr5:177559000-177561000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:177559000-177561000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:177559000-177561000	Weak transcription	Ovary	ovary
12	chr5:177559000-177561200	Weak transcription	Primary T cells from cord blood	blood
13	chr5:177559000-177561200	Weak transcription	Fetal Lung	lung
14	chr5:177559000-177561800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:177559000-177562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:177559000-177562400	Weak transcription	Osteobl	bone
17	chr5:177559000-177562600	Weak transcription	Fetal Intestine Large	intestine
18	chr5:177559000-177562800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:177559000-177562800	Weak transcription	NH-A	brain
20	chr5:177559000-177563000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:177559000-177565000	Weak transcription	Brain Angular Gyrus	brain
22	chr5:177559000-177569000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:177559000-177569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:177559000-177569200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:177559000-177569200	Weak transcription	Gastric	stomach
26	chr5:177559000-177569200	Weak transcription	HSMM	muscle
27	chr5:177559000-177569400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:177559000-177569600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:177559000-177569800	Weak transcription	HUVEC	blood vessel
30	chr5:177559000-177569800	Weak transcription	NHDF-Ad	bronchial
31	chr5:177559000-177570600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:177559000-177572800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:177559000-177572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:177559000-177574000	Weak transcription	Small Intestine	intestine
35	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:177559200-177560400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:177559200-177560800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:177559200-177560800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:177559200-177560800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:177559200-177560800	Weak transcription	Fetal Brain Female	brain
42	chr5:177559200-177560800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:177559200-177561000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:177559200-177561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:177559200-177561000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:177559200-177561000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:177559200-177561000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:177559200-177561000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:177559200-177561000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:177559200-177561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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