Variant report

Variant	rs62461694
Chromosome Location	chr7:80253053-80253054
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	CEBPB	chr7:80252795-80253074	HepG2	liver:	n/a	chr7:80252895-80252908 chr7:80252895-80252906 chr7:80252913-80252926 chr7:80252897-80252908 chr7:80252915-80252926 chr7:80252895-80252908 chr7:80252915-80252926 chr7:80252913-80252926 chr7:80252913-80252924 chr7:80252895-80252908
2	TEAD4	chr7:80253015-80253594	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:80253012-80253054	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:80252805-80253082	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:80252842-80253127	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr7:80252731-80253137	MCF10A-Er-Src	breast:	n/a	chr7:80252771-80252779
7	FOS	chr7:80252780-80253106	MCF10A-Er-Src	breast:	n/a	n/a
8	PBX3	chr7:80253026-80253627	SK-N-SH	brain:	n/a	n/a
9	MYC	chr7:80252787-80253080	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:80252874-80253058	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr7:80252808-80253082	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28694631	0.90[AMR][1000 genomes]
rs3211864	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3211879	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3211881	0.90[EUR][1000 genomes];0.91[ASN][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80246800-80254000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:80251000-80253400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:80251200-80253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:80251400-80253400	Enhancers	NHDF-Ad	bronchial
6	chr7:80251400-80253400	Enhancers	NHLF	lung
7	chr7:80251600-80253200	Enhancers	HSMMtube	muscle
8	chr7:80251600-80253200	Enhancers	Osteobl	bone
9	chr7:80251600-80253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:80251600-80253400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:80251600-80253400	Enhancers	HSMM	muscle
12	chr7:80251600-80253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:80251600-80253600	Enhancers	HMEC	breast
14	chr7:80251800-80253200	Weak transcription	Psoas Muscle	Psoas
15	chr7:80251800-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:80251800-80253400	Enhancers	Fetal Heart	heart
17	chr7:80251800-80253400	Enhancers	NHEK	skin
18	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
19	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:80252400-80254400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:80252600-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:80252600-80253600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:80252800-80253400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:80252800-80253400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:80252800-80253400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:80253000-80253200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:80253000-80253200	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:80253000-80253200	Enhancers	HepG2	liver
29	chr7:80253000-80253200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:80253000-80253400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:80253000-80253400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:80253000-80253400	Enhancers	Fetal Lung	lung
33	chr7:80253000-80253400	Enhancers	Right Atrium	heart
34	chr7:80253000-80253600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:80253000-80253600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:80253000-80253600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:80253000-80253600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:80253000-80253600	Enhancers	Colon Smooth Muscle	Colon
39	chr7:80253000-80253800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:80253000-80253800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr7:80253000-80254200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:80253000-80254200	Enhancers	Left Ventricle	heart
43	chr7:80253000-80254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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