Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10913680	1.00[EUR][1000 genomes]
rs12058617	1.00[EUR][1000 genomes]
rs12090298	1.00[EUR][1000 genomes]
rs16843624	1.00[EUR][1000 genomes]
rs41476749	1.00[EUR][1000 genomes]
rs57282067	1.00[EUR][1000 genomes]
rs57446042	1.00[EUR][1000 genomes]
rs59123048	1.00[EUR][1000 genomes]
rs59949348	1.00[EUR][1000 genomes]
rs6703372	1.00[EUR][1000 genomes]
rs73039305	1.00[EUR][1000 genomes]
rs73039324	1.00[EUR][1000 genomes]
rs73039369	1.00[EUR][1000 genomes]
rs73039392	1.00[EUR][1000 genomes]
rs74123804	1.00[AMR][1000 genomes]
rs74126542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126544	1.00[AMR][1000 genomes]
rs74126546	1.00[AMR][1000 genomes]
rs9970108	1.00[EUR][1000 genomes]
rs9970212	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171879800-171908000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171900000-171916200	Weak transcription	Lung	lung
3	chr1:171903000-171909000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:171903200-171908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:171903200-171908600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:171903200-171909000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:171903800-171906800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:171903800-171908800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:171904000-171906800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:171904800-171913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:171905600-171907200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:171905600-171907200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:171905800-171907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:171906000-171907600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:171906200-171907000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:171906200-171907800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:171906600-171907000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:171906600-171907000	Enhancers	Brain Angular Gyrus	brain
19	chr1:171906600-171923200	Weak transcription	Fetal Kidney	kidney

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