Variant report

Variant	rs12533995
Chromosome Location	chr7:71417510-71417511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215280	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231417	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10252758	0.81[ASN][1000 genomes]
rs10271976	0.83[AFR][1000 genomes]
rs10273440	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10273829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10276992	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10277368	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10279318	0.80[ASN][1000 genomes]
rs1076303	0.80[ASN][1000 genomes]
rs1319249	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869597	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17144138	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2040989	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2867561	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34650147	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6460696	0.80[ASN][1000 genomes]
rs6460698	0.80[ASN][1000 genomes]
rs6460701	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6944338	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6965647	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971765	0.80[ASN][1000 genomes]
rs7780350	0.82[AFR][1000 genomes]
rs7803466	0.80[ASN][1000 genomes]
rs7808924	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974134	0.90[AMR][1000 genomes];0.89[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	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1017367	chr7:71339782-71476575	ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv888344	chr7:71406392-71488833	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv888345	chr7:71408360-71485245	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71400400-71424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71401200-71431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71403400-71431000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71408000-71430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71409200-71419400	Weak transcription	Thymus	Thymus
6	chr7:71409400-71430800	Weak transcription	Fetal Thymus	thymus
7	chr7:71416800-71417800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:71416800-71418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:71417000-71417600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:71417000-71417800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:71417200-71417600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:71417200-71417600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:71417200-71417600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:71417200-71418000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:71417200-71418000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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