Variant report

Variant	rs1992025
Chromosome Location	chr7:15547950-15547951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10232624	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255042	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10256413	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807779	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699727	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699731	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699732	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1992024	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196392	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2196394	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2217866	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944542	0.82[EUR][1000 genomes]
rs6950435	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7801625	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1021172	chr7:14944318-15548794	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538743	chr7:14944318-15548794	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1028314	chr7:15336831-15555412	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1032866	chr7:15336831-15622515	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1033428	chr7:15343210-15554763	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1023086	chr7:15368522-15554763	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538746	chr7:15368522-15554763	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv606295	chr7:15397449-15547950	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1031116	chr7:15428343-15568587	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1028545	chr7:15440202-15554763	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538747	chr7:15440202-15554763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv887729	chr7:15444355-15580078	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv887730	chr7:15482111-15580078	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv887731	chr7:15486895-15580078	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv523674	chr7:15503313-15547950	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv523691	chr7:15503313-15547950	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv887732	chr7:15509843-15573306	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv887733	chr7:15521358-15573306	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv887734	chr7:15521358-15580078	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15545000-15554600	Weak transcription	Fetal Lung	lung
2	chr7:15546000-15548600	Enhancers	NHDF-Ad	bronchial
3	chr7:15546400-15548800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:15546600-15548400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:15546800-15548000	Enhancers	Brain Hippocampus Middle	brain
6	chr7:15546800-15548200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:15546800-15548400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:15546800-15548600	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:15547000-15548400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:15547200-15548000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:15547200-15548200	Enhancers	Osteobl	bone
12	chr7:15547200-15548400	Enhancers	Ovary	ovary
13	chr7:15547400-15548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:15547400-15548600	Weak transcription	A549	lung
15	chr7:15547600-15548200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:15547800-15548000	Flanking Active TSS	HUVEC	blood vessel
17	chr7:15547800-15548200	Active TSS	Brain Substantia Nigra	brain
18	chr7:15547800-15554600	Weak transcription	Brain Anterior Caudate	brain

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