Variant report

Variant	rs565914
Chromosome Location	chr3:101019394-101019395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11929578	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1464361	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2176887	0.82[EUR][1000 genomes]
rs2433032	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2449824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2460721	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553414	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553420	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553421	0.81[EUR][1000 genomes]
rs2553422	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553423	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2553428	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2682387	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2682389	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs3846092	0.91[EUR][1000 genomes]
rs472751	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs485037	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs485793	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs503252	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs503669	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs504482	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513283	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs534119	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs535779	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551395	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs554030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs556820	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs566292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61379928	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs63482	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6779775	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6791803	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6809436	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs72942230	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72942264	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7618600	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7638284	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7648141	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs770968	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9917699	0.90[AMR][1000 genomes];0.98[EUR][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv508232	chr3:101004851-101028209	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101018600-101019400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:101019000-101019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:101019000-101019400	Weak transcription	Primary T cells from cord blood	blood
4	chr3:101019000-101019600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:101019000-101019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:101019200-101019400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:101019200-101022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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