Variant report

Variant	rs6948093
Chromosome Location	chr7:97580974-97580975
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	NFIC	chr7:97580766-97581223	ECC-1	luminal epithelium:	n/a	n/a
2	SP1	chr7:97580871-97581179	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF217	chr7:97580836-97581173	MCF-7	breast:	n/a	n/a
4	TCF12	chr7:97580899-97581331	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr7:97580871-97581244	HCT-116	colon:	n/a	n/a
6	MAX	chr7:97580926-97581262	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr7:97580706-97581221	MCF-7	breast:	n/a	chr7:97580937-97580951
8	EP300	chr7:97580877-97581234	ECC-1	luminal epithelium:	n/a	n/a
9	NR2F2	chr7:97580891-97581246	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:97580926-97581202	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr7:97580765-97581244	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr7:97580935-97581234	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr7:97580878-97581303	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
OR7E7P	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12530996	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532137	0.95[ASN][1000 genomes]
rs34760117	0.95[ASN][1000 genomes]
rs35069412	0.88[ASN][1000 genomes]
rs55903636	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1844775	chr7:97502740-97606178	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970555	chr7:97502806-97639154	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
8	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6948093	AC004967.8	cis	Muscle Skeletal	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97557800-97582200	Weak transcription	Ovary	ovary
2	chr7:97558200-97592600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:97559200-97587800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:97563600-97588800	Weak transcription	Spleen	Spleen
5	chr7:97563600-97595200	Weak transcription	Lung	lung
6	chr7:97572800-97582000	Weak transcription	Adipose Nuclei	Adipose
7	chr7:97573000-97585800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:97573200-97583400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:97574200-97581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:97574800-97583600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:97575200-97581200	Weak transcription	Esophagus	oesophagus
14	chr7:97575600-97588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:97579400-97581800	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr7:97579600-97581800	ZNF genes & repeats	Fetal Brain Female	brain
17	chr7:97579800-97581800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:97580000-97594000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:97580400-97586200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:97580600-97582800	Enhancers	Pancreas	Pancrea
21	chr7:97580800-97581000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:97580800-97581000	Enhancers	Gastric	stomach
23	chr7:97580800-97581200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:97580800-97581200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:97580800-97581200	Enhancers	NHEK	skin
26	chr7:97580800-97581400	Enhancers	Placenta	Placenta
27	chr7:97580800-97581600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:97580800-97581800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:97580800-97582800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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