Variant report

Variant	rs6698966
Chromosome Location	chr1:226203810-226203811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12726662	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12735124	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12741523	0.90[EUR][1000 genomes]
rs16845453	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17514975	0.83[EUR][1000 genomes]
rs34235986	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34897537	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35065132	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35336028	0.81[EUR][1000 genomes]
rs36094219	0.90[EUR][1000 genomes]
rs3748813	0.90[ASN][1000 genomes]
rs4427371	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71646760	0.90[EUR][1000 genomes]
rs71646761	0.90[EUR][1000 genomes]
rs71646762	0.90[EUR][1000 genomes]
rs71646763	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226192400-226204400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:226202200-226204400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226203200-226204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:226203200-226204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:226203200-226204400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:226203200-226204600	Weak transcription	K562	blood
7	chr1:226203400-226204800	Weak transcription	Spleen	Spleen
8	chr1:226203400-226207200	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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