Variant report

Variant	rs12062664
Chromosome Location	chr1:226954215-226954216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12057817	0.83[AFR][1000 genomes]
rs12061458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066190	1.00[AMR][1000 genomes]
rs12066208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085233	0.83[AFR][1000 genomes]
rs12093413	1.00[AMR][1000 genomes]
rs12095568	1.00[AMR][1000 genomes]
rs6664456	0.85[AFR][1000 genomes]
rs7526563	0.85[AFR][1000 genomes]
rs7533208	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555672	1.00[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226949200-226957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:226950200-226955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226950400-226957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:226951200-226954400	Enhancers	Osteobl	bone
5	chr1:226952200-226954400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:226952400-226960200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:226952800-226954800	Enhancers	GM12878-XiMat	blood
8	chr1:226953600-226954400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:226953600-226954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:226953600-226954400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:226953800-226954400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:226953800-226954600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:226953800-226954600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:226953800-226954800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:226953800-226956000	Weak transcription	Thymus	Thymus
16	chr1:226954200-226957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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