Variant report

Variant	rs11236269
Chromosome Location	chr11:74623097-74623098
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74617868..74619628-chr11:74622578..74625095,2	K562	blood:

Variant related genes	Relation type
ENSG00000166435	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11605604	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12363224	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1282460	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1282461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1282689	0.94[ASN][1000 genomes]
rs1282690	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1282692	0.88[ASN][1000 genomes]
rs1282695	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1292895	0.94[ASN][1000 genomes]
rs1297319	0.92[ASN][1000 genomes]
rs1303525	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1315297	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1583342	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2028343	0.92[ASN][1000 genomes]
rs2028344	0.92[ASN][1000 genomes]
rs2033532	0.88[AMR][1000 genomes]
rs41531051	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs471462	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs473080	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs473256	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480840	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483615	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs495246	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497772	0.80[AFR][1000 genomes]
rs502225	0.83[AMR][1000 genomes]
rs505688	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs508319	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511021	0.92[ASN][1000 genomes]
rs511890	0.92[ASN][1000 genomes]
rs512780	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs513137	0.86[AMR][1000 genomes]
rs519741	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs527529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529488	0.92[ASN][1000 genomes]
rs537054	0.87[ASN][1000 genomes]
rs538502	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs543244	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs546643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs550491	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550869	0.92[ASN][1000 genomes]
rs550980	0.98[ASN][1000 genomes]
rs557483	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs561589	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs562265	0.94[ASN][1000 genomes]
rs565767	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs567956	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs568558	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs568758	0.92[ASN][1000 genomes]
rs571446	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs573925	1.00[ASN][1000 genomes]
rs577063	0.88[ASN][1000 genomes]
rs577102	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs580142	0.83[AMR][1000 genomes]
rs590105	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599722	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs603062	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614832	0.94[ASN][1000 genomes]
rs616085	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs624786	0.87[ASN][1000 genomes]
rs625268	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs629573	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs641584	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs643807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs646287	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs688665	0.94[ASN][1000 genomes]
rs9444	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs997465	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11236269	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs11236269	XRRA1	cis	Whole Blood	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74587400-74629600	Weak transcription	Gastric	stomach
2	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:74588400-74636000	Weak transcription	NHLF	lung
4	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
5	chr11:74598400-74629600	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:74606600-74626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:74607600-74637400	Weak transcription	Pancreas	Pancrea
8	chr11:74612400-74629600	Weak transcription	NHDF-Ad	bronchial
9	chr11:74612800-74634000	Weak transcription	Psoas Muscle	Psoas
10	chr11:74613400-74632600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:74613600-74624000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:74613600-74627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:74613800-74628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:74613800-74637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:74614600-74633600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:74615000-74629600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:74615000-74629600	Weak transcription	NH-A	brain
18	chr11:74615000-74636200	Weak transcription	A549	lung
19	chr11:74615200-74632600	Strong transcription	Liver	Liver
20	chr11:74615200-74637200	Weak transcription	HMEC	breast
21	chr11:74615400-74623600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:74615400-74626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:74615600-74626600	Strong transcription	Dnd41	blood
24	chr11:74615800-74633600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:74615800-74644800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:74616000-74634200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:74616000-74634800	Strong transcription	Fetal Intestine Large	intestine
28	chr11:74616200-74626800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:74616200-74634000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:74616400-74623600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:74616400-74633600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:74616400-74634400	Strong transcription	Primary T cells from cord blood	blood
33	chr11:74616400-74646000	Weak transcription	Spleen	Spleen
34	chr11:74616400-74656200	Weak transcription	Stomach Mucosa	stomach
35	chr11:74616600-74623200	Strong transcription	Adipose Nuclei	Adipose
36	chr11:74616600-74623400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:74616600-74629200	Weak transcription	Fetal Thymus	thymus
38	chr11:74616600-74632600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:74616600-74632600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:74617000-74631800	Weak transcription	HUVEC	blood vessel
41	chr11:74617200-74623800	Strong transcription	Thymus	Thymus
42	chr11:74617200-74624800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:74617200-74630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:74617200-74635200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:74617400-74626200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:74617400-74627200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:74617400-74629600	Weak transcription	Lung	lung
48	chr11:74617400-74648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:74618000-74623800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:74618000-74624400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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