Variant report

Variant	rs6489554
Chromosome Location	chr12:4690495-4690496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11063175	1.00[AMR][1000 genomes]
rs11063176	1.00[AMR][1000 genomes]
rs12320287	1.00[AMR][1000 genomes]
rs2907497	1.00[AMR][1000 genomes]
rs2909382	1.00[AMR][1000 genomes]
rs2970811	1.00[AMR][1000 genomes]
rs2970813	1.00[AMR][1000 genomes]
rs2970814	1.00[AMR][1000 genomes]
rs2970816	1.00[AMR][1000 genomes]
rs2970817	1.00[AMR][1000 genomes]
rs2970825	1.00[AMR][1000 genomes]
rs7136895	1.00[AMR][1000 genomes]
rs7972349	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv522586	chr12:4688634-4691682	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv526830	chr12:4689013-4691682	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:4687800-4690600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:4688600-4691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4689000-4691000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:4689200-4691000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:4689400-4690600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4689400-4698800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:4689800-4695600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:4690200-4690600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:4690400-4691800	Weak transcription	Spleen	Spleen
12	chr12:4690400-4696600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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