Variant report

Variant	rs12061897
Chromosome Location	chr1:226942858-226942859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12066190	0.83[AFR][1000 genomes]
rs12072939	0.86[AFR][1000 genomes]
rs12093806	0.83[AFR][1000 genomes]
rs12096709	0.83[AFR][1000 genomes]
rs12098082	1.00[AFR][1000 genomes]
rs6686798	0.92[AFR][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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:226940600-226943600	Enhancers	K562	blood
2	chr1:226940600-226944000	Enhancers	Fetal Thymus	thymus
3	chr1:226941000-226944000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:226941200-226943800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:226941200-226943800	Enhancers	Thymus	Thymus
6	chr1:226941400-226943600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:226941400-226943600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:226941400-226943800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:226941600-226943600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:226942000-226943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:226942000-226949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:226942000-226950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:226942200-226943400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:226942600-226943000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:226942600-226943200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:226942600-226943600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:226942600-226943600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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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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