Variant report

Variant	rs10494348
Chromosome Location	chr1:161259624-161259625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494349	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11265584	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12091289	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12093075	0.89[EUR][1000 genomes]
rs12098224	0.89[EUR][1000 genomes]
rs12744346	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17398501	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34362626	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4477295	1.00[CEU][hapmap];0.88[EUR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr1:161243000-161261200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:161243200-161264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:161250400-161274200	Weak transcription	Fetal Stomach	stomach
4	chr1:161252400-161274800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:161254400-161261200	Weak transcription	Brain Anterior Caudate	brain
6	chr1:161255200-161274800	Weak transcription	Lung	lung
7	chr1:161255600-161260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:161255600-161261200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:161255600-161274600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:161255800-161259800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:161255800-161260800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:161255800-161261000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:161255800-161261200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:161256400-161272800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:161257600-161260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:161258200-161259800	Weak transcription	HepG2	liver
17	chr1:161258200-161261000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:161258200-161261000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:161259000-161267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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