Variant report

Variant	rs10255459
Chromosome Location	chr7:47801040-47801041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10085627	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971419	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978262	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533948	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13438587	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551278	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28454924	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581988	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620363	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968057	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv606860	chr7:47799473-47802084	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1796083	chr7:47799579-47801097	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1850736	chr7:47799579-47801226	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv16631	chr7:47799598-47801500	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv606864	chr7:47799681-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv606865	chr7:47799681-47802084	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv606867	chr7:47799752-47801097	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
16	nsv606868	chr7:47799752-47801291	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
17	nsv606869	chr7:47799752-47801401	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv606870	chr7:47799752-47802084	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv606872	chr7:47799753-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv606873	chr7:47799753-47802084	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv606875	chr7:47799910-47801097	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
22	nsv606876	chr7:47799910-47801226	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
23	nsv606877	chr7:47799910-47801291	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
24	nsv606878	chr7:47799910-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv606879	chr7:47799910-47802084	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv606880	chr7:47800014-47801097	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
27	nsv606881	chr7:47800014-47801226	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
28	nsv606882	chr7:47800014-47801401	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv606883	chr7:47800014-47802084	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv606884	chr7:47800096-47801226	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
31	nsv606885	chr7:47800096-47801291	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
32	nsv606886	chr7:47800096-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv606887	chr7:47800096-47802472	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv606888	chr7:47800210-47801291	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
35	esv1792129	chr7:47800210-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv1825195	chr7:47800210-47801401	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
37	esv1838187	chr7:47800210-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv606889	chr7:47800210-47801401	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv606890	chr7:47800210-47802084	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv606891	chr7:47800210-47802472	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47797800-47802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:47797800-47802800	Weak transcription	Placenta	Placenta
4	chr7:47798000-47803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:47798200-47802400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:47798200-47802600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:47798400-47802800	Weak transcription	Fetal Kidney	kidney
8	chr7:47798400-47802800	Weak transcription	Fetal Lung	lung
9	chr7:47798400-47802800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:47798600-47802000	Weak transcription	NH-A	brain
11	chr7:47798600-47802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:47798600-47802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:47798600-47802400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:47798600-47802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:47798600-47802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:47798600-47802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:47798600-47802800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:47798600-47812200	Weak transcription	Aorta	Aorta
19	chr7:47798800-47802600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:47799000-47801400	Weak transcription	NHDF-Ad	bronchial
21	chr7:47799000-47801800	Weak transcription	Hela-S3	cervix
22	chr7:47799000-47802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:47799000-47802200	Weak transcription	Osteobl	bone
24	chr7:47799200-47802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:47799400-47802000	Weak transcription	NHLF	lung
26	chr7:47799400-47802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:47799400-47802400	Weak transcription	HMEC	breast
28	chr7:47799400-47802400	Weak transcription	HSMM	muscle
29	chr7:47799600-47801200	Weak transcription	A549	lung
30	chr7:47799600-47802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:47799600-47802400	Weak transcription	HSMMtube	muscle
32	chr7:47799800-47801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:47799800-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:47800400-47801400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:47801000-47801400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:47801000-47802000	Enhancers	HepG2	liver

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