Variant report

Variant	rs2487265
Chromosome Location	chr1:213083016-213083017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1284850	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1284857	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1284858	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1284859	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1284861	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1296068	0.80[EUR][1000 genomes]
rs1472845	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1692181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1692185	0.92[EUR][1000 genomes]
rs1770775	0.84[EUR][1000 genomes]
rs1770776	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2252377	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2262891	0.88[EUR][1000 genomes]
rs2487264	0.86[EUR][1000 genomes]
rs2644546	0.86[EUR][1000 genomes]
rs2644550	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2792559	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2940085	1.00[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2994522	0.96[EUR][1000 genomes]
rs2994523	0.83[EUR][1000 genomes]
rs3006241	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs57046861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931591	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9430103	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs9430104	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9430105	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3403224	chr1:213081429-213085627	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3437401	chr1:213082329-213088502	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 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	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
4	chr1:213080600-213083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:213081600-213088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:213082400-213083200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:213082400-213083200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr1:213082600-213083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:213082800-213083200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:213083000-213083200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:213083000-213083200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:213083000-213083200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
13	chr1:213083000-213083200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:213083000-213083200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr1:213083000-213083200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:213083000-213083200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:213083000-213083400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:213083000-213083400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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