Variant report

Variant	rs570418685
Chromosome Location	chr7:80253328-80253329
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	CTCF	chr7:80253300-80253450	MCF-7	breast:	n/a	n/a
2	TEAD4	chr7:80253015-80253594	HepG2	liver:	n/a	n/a
3	FOXA2	chr7:80253126-80253450	HepG2	liver:	n/a	n/a
4	TEAD4	chr7:80253220-80253514	H1-hESC	embryonic stem cell:	n/a	n/a
5	PBX3	chr7:80253026-80253627	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr7:80253300-80253450	HepG2	liver:	n/a	n/a
7	PBX3	chr7:80253080-80253577	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr7:80253300-80253450	HPAF	blood vessel:	n/a	n/a
9	FOXA1	chr7:80253159-80253452	T-47D	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAI1-4	chr7:80253211-80253506	NONHSAT121747

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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:39 , 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	chr7:80251600-80253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:80251600-80253400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:80251600-80253400	Enhancers	HSMM	muscle
10	chr7:80251600-80253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:80251600-80253600	Enhancers	HMEC	breast
12	chr7:80251800-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:80251800-80253400	Enhancers	Fetal Heart	heart
14	chr7:80251800-80253400	Enhancers	NHEK	skin
15	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
16	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:80252400-80254400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:80252600-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:80252600-80253600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80252800-80253400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:80252800-80253400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:80252800-80253400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:80253000-80253400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:80253000-80253400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:80253000-80253400	Enhancers	Fetal Lung	lung
26	chr7:80253000-80253400	Enhancers	Right Atrium	heart
27	chr7:80253000-80253600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:80253000-80253600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:80253000-80253600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:80253000-80253600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:80253000-80253600	Enhancers	Colon Smooth Muscle	Colon
32	chr7:80253000-80253800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:80253000-80253800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:80253000-80254200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:80253000-80254200	Enhancers	Left Ventricle	heart
36	chr7:80253000-80254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:80253200-80253800	Flanking Active TSS	HepG2	liver
38	chr7:80253200-80254000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:80253200-80254400	Enhancers	Psoas Muscle	Psoas

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