Variant report

Variant	rs12792161
Chromosome Location	chr11:9498911-9498912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9498298..9500683-chr11:9505385..9507215,2	K562	blood:
2	chr11:9481104..9483094-chr11:9498453..9502182,4	K562	blood:
3	chr11:9496196..9499185-chr11:9501862..9504317,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1020621	0.85[ASN][1000 genomes]
rs1020622	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770033	0.85[ASN][1000 genomes]
rs10770034	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840237	0.83[ASN][1000 genomes]
rs10840238	0.84[ASN][1000 genomes]
rs10840243	0.95[ASN][1000 genomes]
rs10840244	0.91[ASN][1000 genomes]
rs10840245	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840247	1.00[ASN][1000 genomes]
rs10840249	0.95[ASN][1000 genomes]
rs10840253	0.81[EUR][1000 genomes]
rs11042348	0.82[ASN][1000 genomes]
rs11042350	0.84[ASN][1000 genomes]
rs11042353	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042355	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042356	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042366	0.83[ASN][1000 genomes]
rs11042374	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042377	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042393	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042395	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042397	0.89[EUR][1000 genomes]
rs11601316	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11826606	0.85[EUR][1000 genomes]
rs12271897	0.84[ASN][1000 genomes]
rs12282176	0.85[ASN][1000 genomes]
rs12296039	0.81[ASN][1000 genomes]
rs12797567	0.82[ASN][1000 genomes]
rs12800802	0.84[ASN][1000 genomes]
rs12806418	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377667	0.97[ASN][1000 genomes]
rs1470895	0.94[ASN][1000 genomes]
rs1470896	0.97[ASN][1000 genomes]
rs1543	0.97[ASN][1000 genomes]
rs17258462	0.81[EUR][1000 genomes]
rs1968717	0.98[ASN][1000 genomes]
rs2278900	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290423	0.81[ASN][1000 genomes]
rs2290424	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290425	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35781320	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763874	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3763877	0.97[ASN][1000 genomes]
rs41369549	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4810	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910053	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910468	0.97[ASN][1000 genomes]
rs6486359	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6486361	0.85[ASN][1000 genomes]
rs6486394	0.97[ASN][1000 genomes]
rs67548305	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7102473	0.98[ASN][1000 genomes]
rs7103931	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7104568	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7122252	0.84[ASN][1000 genomes]
rs723297	0.97[ASN][1000 genomes]
rs727405	0.95[ASN][1000 genomes]
rs729313	1.00[ASN][1000 genomes]
rs7395411	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7483667	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7926589	0.97[ASN][1000 genomes]
rs7928823	0.82[EUR][1000 genomes]
rs7928945	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7932192	0.89[EUR][1000 genomes]
rs7933621	0.98[ASN][1000 genomes]
rs7938998	0.89[EUR][1000 genomes]
rs7944435	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7949973	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8785	0.85[ASN][1000 genomes]
rs972594	0.96[ASN][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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12792161	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483400-9499800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9483600-9499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9483600-9499400	Weak transcription	Pancreas	Pancrea
4	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:9484000-9499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:9484200-9499800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
9	chr11:9485400-9499600	Weak transcription	A549	lung
10	chr11:9485600-9499800	Weak transcription	Hela-S3	cervix
11	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:9491400-9506200	Strong transcription	Liver	Liver
14	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:9491600-9502600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:9492200-9503000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:9492600-9502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:9492600-9505800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:9492800-9499600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
26	chr11:9493200-9503200	Strong transcription	Placenta	Placenta
27	chr11:9493200-9506600	Strong transcription	Fetal Intestine Small	intestine
28	chr11:9493400-9503000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:9495000-9499600	Weak transcription	Psoas Muscle	Psoas
30	chr11:9495400-9499400	Weak transcription	Gastric	stomach
31	chr11:9495400-9499400	Weak transcription	Right Ventricle	heart
32	chr11:9495400-9499600	Weak transcription	Brain Substantia Nigra	brain
33	chr11:9495400-9503600	Strong transcription	Brain Germinal Matrix	brain
34	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:9495800-9499600	Weak transcription	NH-A	brain
36	chr11:9495800-9505800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:9496000-9499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:9496000-9501200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:9496200-9499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:9496200-9499800	Weak transcription	HUVEC	blood vessel
41	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
43	chr11:9496400-9499600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:9496400-9499800	Weak transcription	K562	blood
45	chr11:9496400-9499800	Weak transcription	NHDF-Ad	bronchial
46	chr11:9496400-9500000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:9496600-9499200	Weak transcription	Dnd41	blood
48	chr11:9496600-9499400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:9496600-9499400	Weak transcription	Aorta	Aorta
50	chr11:9496600-9499400	Weak transcription	Fetal Kidney	kidney

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