Variant report

Variant	rs10848593
Chromosome Location	chr12:2021700-2021701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10774004	0.82[EUR][1000 genomes]
rs11062020	0.81[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:19 , 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	chr12:2021000-2022400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:2021200-2022200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:2021400-2021800	Enhancers	HSMMtube	muscle
11	chr12:2021600-2021800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:2021600-2021800	Enhancers	Psoas Muscle	Psoas
13	chr12:2021600-2022000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:2021600-2022200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:2021600-2022200	Enhancers	Placenta	Placenta
16	chr12:2021600-2022200	Bivalent Enhancer	HepG2	liver
17	chr12:2021600-2022400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:2021600-2022400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:2021600-2022800	Enhancers	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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