Variant report

Variant	rs72992
Chromosome Location	chr11:121243662-121243663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10750189	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10750190	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750191	0.81[AMR][1000 genomes]
rs10790438	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10790439	0.87[ASN][1000 genomes]
rs10790440	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10790443	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10892740	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892741	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10892744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11218274	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11218281	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12575786	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1469535	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808581	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs190930	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs212501	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2453144	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453145	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2512091	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs297485	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs297486	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs297489	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs297490	0.93[ASN][1000 genomes]
rs297491	0.93[ASN][1000 genomes]
rs297492	0.93[ASN][1000 genomes]
rs297493	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs297520	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs297525	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs297526	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936619	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4936620	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61856965	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61903104	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs662738	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7102251	0.94[ASN][1000 genomes]
rs7117989	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128176	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72991	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7941466	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs891437	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs891438	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs903243	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs99672	0.93[ASN][1000 genomes]
rs99673	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72992	SORL1	Cis_1M	lymphoblastoid	RTeQTL
rs72992	C11orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121230800-121249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:121239400-121244600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:121239600-121245000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:121239600-121259200	Weak transcription	Psoas Muscle	Psoas
5	chr11:121242000-121244200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:121242000-121245200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr11:121242000-121246400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:121242400-121245000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:121242600-121244200	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:121242600-121244400	Enhancers	Dnd41	blood
11	chr11:121242600-121244800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:121242600-121244800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:121242600-121245000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:121242600-121245600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:121242600-121246000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:121242600-121246400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:121242600-121246400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:121242600-121251200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:121242800-121243800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:121242800-121244400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:121243000-121244000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:121243000-121244400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:121243000-121247600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:121243000-121247600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:121243000-121251000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:121243200-121244400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:121243200-121244400	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:121243200-121244800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:121243200-121245800	Enhancers	Fetal Thymus	thymus
30	chr11:121243200-121246600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:121243200-121247600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:121243400-121244200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:121243400-121244200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:121243400-121244200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:121243400-121244200	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:121243400-121244200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:121243400-121244200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:121243400-121244200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:121243400-121244200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:121243400-121244200	Enhancers	Spleen	Spleen
41	chr11:121243400-121244400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:121243400-121244400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:121243400-121244400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:121243400-121244800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:121243600-121243800	Enhancers	Fetal Intestine Large	intestine
46	chr11:121243600-121243800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:121243600-121243800	Enhancers	Thymus	Thymus
48	chr11:121243600-121244200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:121243600-121244200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr11:121243600-121244200	Flanking Active TSS	Primary B cells from peripheral blood	blood

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