Variant report

Variant	rs73405382
Chromosome Location	chr7:100106973-100106974
allele	C/G/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	STAT3	chr7:100106855-100107278	MCF10A-Er-Src	breast:	n/a	chr7:100107111-100107122
2	E2F4	chr7:100106860-100107049	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr7:100106893-100107393	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr7:100106814-100107329	MCF10A-Er-Src	breast:	n/a	chr7:100107111-100107122
5	POLR2A	chr7:100106931-100107154	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:100106924-100107280	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr7:100106811-100107262	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr7:100106859-100107374	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:100106893-100107354	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:100106855-100107293	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:100106890-100107342	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXP2	chr7:100106823-100107252	PFSK-1	brain:	n/a	n/a
13	ELF1	chr7:100106894-100107252	HepG2	liver:	n/a	n/a
14	STAT3	chr7:100106816-100107317	MCF10A-Er-Src	breast:	n/a	chr7:100107111-100107122
15	STAT3	chr7:100106765-100107298	MCF10A-Er-Src	breast:	n/a	chr7:100107111-100107122

Variant related genes	Relation type
ENSG00000225807	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11760595	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11765024	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773620	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59120146	0.84[ASN][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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100092600-100107000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:100094000-100107000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:100104400-100112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:100106600-100107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:100106600-100107400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:100106600-100107400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:100106600-100107400	Enhancers	Fetal Muscle Leg	muscle
9	chr7:100106600-100107400	Enhancers	HMEC	breast
10	chr7:100106800-100107000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr7:100106800-100107000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr7:100106800-100107000	Enhancers	Pancreas	Pancrea
13	chr7:100106800-100107000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr7:100106800-100107000	Bivalent Enhancer	HSMM	muscle
15	chr7:100106800-100107000	Flanking Active TSS	NH-A	brain
16	chr7:100106800-100107000	Flanking Active TSS	NHEK	skin
17	chr7:100106800-100107200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:100106800-100107200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:100106800-100107200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:100106800-100107200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:100106800-100107200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:100106800-100107200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:100106800-100107200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:100106800-100107200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:100106800-100107200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:100106800-100107200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr7:100106800-100107200	Enhancers	Brain Angular Gyrus	brain
28	chr7:100106800-100107200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:100106800-100107200	Enhancers	Brain Substantia Nigra	brain
30	chr7:100106800-100107200	Active TSS	Colon Smooth Muscle	Colon
31	chr7:100106800-100107200	Flanking Active TSS	Fetal Lung	lung
32	chr7:100106800-100107200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr7:100106800-100107200	Flanking Active TSS	Ovary	ovary
34	chr7:100106800-100107200	Flanking Active TSS	HepG2	liver
35	chr7:100106800-100107200	Active TSS	HSMMtube	muscle
36	chr7:100106800-100107200	Enhancers	NHDF-Ad	bronchial
37	chr7:100106800-100107400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:100106800-100107400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:100106800-100107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:100106800-100107400	Enhancers	Esophagus	oesophagus
41	chr7:100106800-100107400	Enhancers	Fetal Stomach	stomach
42	chr7:100106800-100107400	Enhancers	Osteobl	bone
43	chr7:100106800-100108000	Enhancers	K562	blood

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