Variant report

Variant	rs7127704
Chromosome Location	chr11:45406048-45406049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10838458	0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11038415	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11601710	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs12365508	0.88[ASN][1000 genomes]
rs12418562	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs1530872	0.95[ASN][1000 genomes]
rs17788257	0.92[ASN][1000 genomes]
rs1868910	0.85[ASN][1000 genomes]
rs1989168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242043	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs34755629	1.00[ASN][1000 genomes]
rs35345891	0.95[ASN][1000 genomes]
rs35864917	0.95[ASN][1000 genomes]
rs6485623	0.95[ASN][1000 genomes]
rs7130052	0.93[CHB][hapmap];0.87[ASN][1000 genomes]
rs7925979	0.95[ASN][1000 genomes]
rs7930779	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7931345	0.93[ASN][1000 genomes]
rs7945142	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv467869	chr11:45389225-45415035	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv554185	chr11:45389225-45415035	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7127704	PHF21A	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45393800-45406200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45394200-45406200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45403200-45408400	Enhancers	Brain Germinal Matrix	brain
4	chr11:45403200-45410000	Enhancers	Fetal Thymus	thymus
5	chr11:45403600-45407800	Enhancers	Thymus	Thymus
6	chr11:45403600-45408000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr11:45404000-45406800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:45404200-45407800	Enhancers	Fetal Brain Male	brain
9	chr11:45404800-45407600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr11:45405000-45406600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:45405200-45406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:45405200-45407000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:45405400-45407000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
15	chr11:45405600-45406400	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr11:45405600-45407400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:45405800-45406200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:45406000-45406200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:45406000-45406400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:45406000-45406800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:45406000-45408800	Enhancers	Fetal Brain Female	brain
22	chr11:45406000-45409200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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