Variant report

Variant	rs727152
Chromosome Location	chr11:4019765-4019766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10734400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10742194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10742207	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10767775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835500	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11030584	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602757	0.90[GIH][hapmap];0.88[MKK][hapmap]
rs1465952	0.91[LWK][hapmap];0.94[MKK][hapmap]
rs2289570	0.90[GIH][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap]
rs2860454	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898950	0.90[GIH][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap]
rs2920137	0.90[GIH][hapmap]
rs2920142	0.90[GIH][hapmap]
rs2923946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2923958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2923959	0.91[AFR][1000 genomes]
rs2959058	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959059	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4379839	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910595	0.90[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap]
rs6578430	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7114777	0.81[AFR][1000 genomes]
rs7928763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7945918	0.91[LWK][hapmap];0.96[MKK][hapmap]

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	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs727152	IFITM5	cis	cerebellum	SCAN
rs727152	C11orf21	cis	parietal	SCAN
rs727152	RRM1	cis	cerebellum	SCAN
rs727152	ANO9	cis	parietal	SCAN
rs727152	KRTAP5-4	cis	cerebellum	SCAN
rs727152	DCHS1	cis	parietal	SCAN
rs727152	TRIM21	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
4	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:4015600-4020400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:4016000-4020400	Weak transcription	Thymus	Thymus
7	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:4017600-4020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:4017600-4020400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:4017600-4020400	Weak transcription	Fetal Thymus	thymus
11	chr11:4017600-4020400	Weak transcription	Dnd41	blood
12	chr11:4017600-4020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
14	chr11:4017800-4020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:4017800-4020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:4017800-4020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:4018000-4020400	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:4018000-4023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:4018200-4020200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:4018200-4027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:4018200-4027200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:4018400-4027000	Weak transcription	Primary T cells from cord blood	blood
23	chr11:4018800-4020000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:4018800-4022400	Weak transcription	Liver	Liver
25	chr11:4018800-4027200	Weak transcription	Psoas Muscle	Psoas
26	chr11:4019400-4020600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:4019400-4027000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:4019600-4020400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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