Variant report

Variant	rs5004567
Chromosome Location	chr6:114606444-114606445
allele	G/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:8)

rs_ID	r²[population]
rs11153476	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1323052	0.80[ASN][1000 genomes]
rs1323053	0.82[ASN][1000 genomes]
rs1323054	0.81[ASN][1000 genomes]
rs17378311	0.82[ASN][1000 genomes]
rs2882105	0.82[ASN][1000 genomes]
rs35533566	0.82[ASN][1000 genomes]
rs7746002	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3692910	chr6:114597419-115480580	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv528128	chr6:114597657-115471129	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv818451	chr6:114597657-115471129	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114596200-114608400	Weak transcription	HepG2	liver
2	chr6:114603800-114607800	Weak transcription	HSMM	muscle
3	chr6:114603800-114608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:114603800-114609000	Weak transcription	Brain Angular Gyrus	brain
5	chr6:114603800-114618400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:114604000-114609600	Weak transcription	Brain Substantia Nigra	brain
7	chr6:114604000-114612000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:114604000-114612200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:114604600-114609000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:114605000-114608400	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:114605000-114611600	Weak transcription	Fetal Brain Male	brain
12	chr6:114605200-114617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:114605400-114606600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:114605600-114609000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:114605600-114609400	Weak transcription	HSMMtube	muscle
16	chr6:114605600-114617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:114605600-114626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:114606400-114611200	Weak transcription	HUES48 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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