Variant report

Variant	rs4715000
Chromosome Location	chr6:12944118-12944119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13201878	0.92[EUR][1000 genomes]
rs6905419	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922782	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7741655	0.88[ASN][1000 genomes]
rs7748390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr6:12930400-12951800	Weak transcription	Fetal Brain Female	brain
2	chr6:12933200-12944200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:12941600-12948600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:12942000-12944200	Weak transcription	Brain Anterior Caudate	brain
5	chr6:12942000-12945200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:12942200-12948600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:12942400-12944600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:12942400-12947600	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:12942600-12947400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:12943600-12944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:12943600-12951800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:12943800-12944600	Enhancers	Adipose Nuclei	Adipose
13	chr6:12944000-12944600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:12944000-12945400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:12944000-12945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:12944000-12945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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