Variant report

Variant	rs11829834
Chromosome Location	chr12:105984428-105984429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12099891	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56852671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60471022	1.00[AMR][1000 genomes]
rs7302359	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383298	1.00[AMR][1000 genomes]
rs73383302	1.00[AMR][1000 genomes]
rs73385007	1.00[AMR][1000 genomes]
rs73385015	1.00[AMR][1000 genomes]
rs73385077	1.00[AMR][1000 genomes]
rs7956928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105982200-105989200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:105982200-105989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:105983400-105985200	Enhancers	HUVEC	blood vessel
4	chr12:105983800-105984600	Weak transcription	Esophagus	oesophagus
5	chr12:105983800-105985400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:105983800-105985600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105984000-105985000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:105984000-105985000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:105984000-105985000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:105984000-105985400	Enhancers	NHEK	skin
11	chr12:105984000-105985600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:105984000-105985600	Enhancers	HMEC	breast
13	chr12:105984200-105984600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:105984400-105985000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:105984400-105985000	Enhancers	Hela-S3	cervix
16	chr12:105984400-105985000	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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