Variant report

Variant	rs17487958
Chromosome Location	chr7:79049980-79049981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16885139	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458997	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458998	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62459000	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62459009	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62459010	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79043000-79051200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:79048600-79050000	Enhancers	Adipose Nuclei	Adipose
3	chr7:79048600-79050200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:79048600-79050400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:79048600-79050600	Enhancers	Brain Angular Gyrus	brain
6	chr7:79049200-79050000	Enhancers	Brain Anterior Caudate	brain
7	chr7:79049200-79050000	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:79049200-79050200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:79049200-79050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:79049200-79050400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:79049200-79050600	Enhancers	Liver	Liver
12	chr7:79049200-79050600	Enhancers	Osteobl	bone
13	chr7:79049400-79050200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79049400-79050200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:79049400-79050200	Enhancers	Hela-S3	cervix
16	chr7:79049400-79050400	Enhancers	NH-A	brain
17	chr7:79049400-79052000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:79049600-79050200	Active TSS	Brain Hippocampus Middle	brain
19	chr7:79049600-79050200	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr7:79049600-79050200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:79049600-79050200	Flanking Active TSS	A549	lung
22	chr7:79049600-79050200	Enhancers	HepG2	liver
23	chr7:79049800-79050200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:79049800-79050200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:79049800-79050200	Weak transcription	Fetal Stomach	stomach
26	chr7:79049800-79050200	Active TSS	Stomach Smooth Muscle	stomach
27	chr7:79049800-79050600	Enhancers	NHDF-Ad	bronchial
28	chr7:79049800-79050600	Enhancers	NHLF	lung

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