Variant report

Variant	rs1407731
Chromosome Location	chr6:114599507-114599508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484275	0.94[ASN][1000 genomes]
rs12665133	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs13202175	0.98[ASN][1000 genomes]
rs13204144	0.94[ASN][1000 genomes]
rs1323050	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337328	0.80[AMR][1000 genomes]
rs1359029	0.94[ASN][1000 genomes]
rs1407730	0.96[ASN][1000 genomes]
rs2050613	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7453897	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7741208	0.96[ASN][1000 genomes]
rs7758085	0.94[ASN][1000 genomes]
rs7763134	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv33752	chr6:114557760-114602482	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114577000-114603000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:114591400-114602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:114596200-114608400	Weak transcription	HepG2	liver
4	chr6:114596800-114600200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:114598000-114600200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:114598000-114600400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:114598000-114600400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:114598000-114600400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:114598000-114605200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:114598800-114599600	Enhancers	Brain Anterior Caudate	brain
11	chr6:114598800-114600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:114599000-114599600	Enhancers	Brain Hippocampus Middle	brain
13	chr6:114599000-114600200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:114599000-114600200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:114599200-114599600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:114599200-114599600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr6:114599200-114599600	Enhancers	Brain Substantia Nigra	brain
18	chr6:114599200-114600200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:114599200-114602400	Weak transcription	Brain Angular Gyrus	brain

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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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