Variant report

Variant	rs2470415
Chromosome Location	chr12:2021533-2021534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2008352	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2429167	0.85[EUR][1000 genomes]
rs2429168	0.85[EUR][1000 genomes]
rs2429169	0.84[EUR][1000 genomes]
rs2470409	0.85[EUR][1000 genomes]
rs758157	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs758158	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs886939	0.85[EUR][1000 genomes]
rs886941	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv898600	chr12:2020045-2056363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2018400-2024400	Weak transcription	Spleen	Spleen
2	chr12:2020400-2027000	Enhancers	Fetal Thymus	thymus
3	chr12:2020400-2027400	Enhancers	Fetal Muscle Leg	muscle
4	chr12:2020600-2021800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:2020600-2021800	Enhancers	HSMM	muscle
6	chr12:2020600-2026000	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:2020800-2021800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:2021000-2021600	Weak transcription	Psoas Muscle	Psoas
9	chr12:2021000-2022400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:2021200-2022200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:2021400-2021600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:2021400-2021600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:2021400-2021800	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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