Variant report

Variant	rs8031749
Chromosome Location	chr15:44291711-44291712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10152658	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11630936	0.83[EUR][1000 genomes]
rs11635039	0.86[EUR][1000 genomes]
rs11637468	0.83[EUR][1000 genomes]
rs16950215	0.83[EUR][1000 genomes]
rs17505315	0.82[EUR][1000 genomes]
rs28377221	0.83[EUR][1000 genomes]
rs28525216	0.92[EUR][1000 genomes]
rs28529668	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28542819	0.83[EUR][1000 genomes]
rs28599486	0.80[EUR][1000 genomes]
rs28645532	0.82[EUR][1000 genomes]
rs28670868	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28706414	0.83[EUR][1000 genomes]
rs28707435	0.94[EUR][1000 genomes]
rs28830267	0.82[EUR][1000 genomes]
rs3742981	0.83[EUR][1000 genomes]
rs7178452	0.83[EUR][1000 genomes]
rs9920164	0.80[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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1045362	chr15:44280481-44414443	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44263000-44295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:44269800-44291800	Weak transcription	NH-A	brain
3	chr15:44269800-44292200	Weak transcription	HMEC	breast
4	chr15:44277400-44292400	Weak transcription	NHLF	lung
5	chr15:44278200-44295400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:44280400-44292400	Weak transcription	Right Ventricle	heart
7	chr15:44282000-44296800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:44282400-44292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:44288400-44295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:44288600-44301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:44289800-44291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:44290200-44293200	Enhancers	Brain Substantia Nigra	brain
13	chr15:44290400-44292600	Enhancers	Fetal Heart	heart
14	chr15:44290600-44292600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr15:44290600-44292600	Enhancers	NHDF-Ad	bronchial
16	chr15:44290600-44292600	Enhancers	NHEK	skin
17	chr15:44290600-44294000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:44290800-44292600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:44291000-44292600	Enhancers	Left Ventricle	heart
20	chr15:44291200-44292200	Weak transcription	Brain Anterior Caudate	brain
21	chr15:44291200-44292200	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:44291200-44292200	Weak transcription	Right Atrium	heart
23	chr15:44291200-44292400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:44291200-44292400	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:44291400-44292400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:44291400-44292400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:44291400-44292400	Weak transcription	Adipose Nuclei	Adipose
28	chr15:44291400-44293000	Enhancers	HUVEC	blood vessel
29	chr15:44291400-44298800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:44291400-44301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:44291600-44292000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:44291600-44292000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:44291600-44292000	Weak transcription	Brain Cingulate Gyrus	brain

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