Variant report

Variant	rs12666091
Chromosome Location	chr7:79909438-79909439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10246790	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13230620	0.83[AFR][1000 genomes]
rs7788673	0.95[ASN][1000 genomes]
rs7792873	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2761340	chr7:79905897-79922486	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79898800-79911000	Weak transcription	Small Intestine	intestine
2	chr7:79905600-79911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:79906200-79910200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:79906600-79912800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:79907000-79909600	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:79907400-79916400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:79907800-79914000	Weak transcription	Fetal Lung	lung
8	chr7:79908000-79916400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:79908000-79916600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:79908200-79916400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:79908400-79909600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:79908400-79909800	Weak transcription	Fetal Kidney	kidney
13	chr7:79909000-79912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79909200-79912800	Weak transcription	Adipose Nuclei	Adipose
15	chr7:79909200-79912800	Weak transcription	Psoas Muscle	Psoas
16	chr7:79909400-79909600	Enhancers	Ovary	ovary
17	chr7:79909400-79909800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:79909400-79910000	Enhancers	A549	lung
19	chr7:79909400-79912400	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:79909400-79914000	Weak transcription	HSMMtube	muscle
21	chr7:79909400-79916400	Weak transcription	Brain Inferior Temporal Lobe	brain

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