Variant report

Variant	rs4330937
Chromosome Location	chr1:161256919-161256920
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2501879	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4278382	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332372	1.00[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161238200-161257600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:161243000-161261200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:161243200-161264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:161250400-161274200	Weak transcription	Fetal Stomach	stomach
5	chr1:161252400-161274800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:161254400-161261200	Weak transcription	Brain Anterior Caudate	brain
7	chr1:161255200-161274800	Weak transcription	Lung	lung
8	chr1:161255600-161260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:161255600-161261200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:161255600-161274600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:161255800-161257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:161255800-161259800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:161255800-161260800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:161255800-161261000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:161255800-161261200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:161256400-161272800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:161256800-161257600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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