Variant report

Variant	rs11977507
Chromosome Location	chr7:97583683-97583684
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11983172	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13236364	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28693815	0.84[EUR][1000 genomes]
rs36017699	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7794912	0.90[AMR][1000 genomes];0.90[EUR][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
rs11977507	AC004967.8	cis	Muscle Skeletal	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97558200-97592600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:97559200-97587800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:97563600-97588800	Weak transcription	Spleen	Spleen
4	chr7:97563600-97595200	Weak transcription	Lung	lung
5	chr7:97573000-97585800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:97575600-97588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:97580000-97594000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:97580400-97586200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:97581000-97597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:97581800-97598400	Weak transcription	Gastric	stomach
13	chr7:97582600-97588600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:97582800-97596800	Weak transcription	Pancreas	Pancrea
15	chr7:97582800-97600600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:97583400-97584000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:97583400-97584400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:97583600-97584400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:97583600-97584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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