Variant report

Variant	rs11236290
Chromosome Location	chr11:74728553-74728554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74720689..74723993-chr11:74726887..74730730,4	K562	blood:
2	chr11:74720292..74723058-chr11:74725364..74728769,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10751241	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs10793107	0.95[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793108	0.91[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793112	0.81[AMR][1000 genomes]
rs10899051	0.83[AMR][1000 genomes]
rs10899052	0.91[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs10899053	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899054	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899059	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899060	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899061	0.81[AMR][1000 genomes]
rs11236281	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236296	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11603294	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221841	0.92[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs12225372	0.81[AMR][1000 genomes]
rs12419113	0.81[AMR][1000 genomes]
rs12419929	0.81[AMR][1000 genomes]
rs12575200	0.81[AMR][1000 genomes]
rs12577127	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577614	0.87[AMR][1000 genomes]
rs1371410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2119028	0.96[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs2165162	0.96[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs2165163	0.96[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs2298746	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs2304683	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs3814726	0.95[JPT][hapmap]
rs4245440	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387374	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944960	0.92[CEU][hapmap];0.91[JPT][hapmap]
rs4944961	0.95[JPT][hapmap]
rs4944965	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944970	0.81[AMR][1000 genomes]
rs56194145	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59143825	0.81[AMR][1000 genomes]
rs61671395	0.81[AMR][1000 genomes]
rs61894839	0.81[AMR][1000 genomes]
rs7102619	0.82[AMR][1000 genomes]
rs7105085	0.91[CEU][hapmap];0.95[JPT][hapmap]
rs7106757	0.81[AMR][1000 genomes]
rs7128739	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs725460	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7396866	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7483351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs919877	0.92[CEU][hapmap];0.91[JPT][hapmap]
rs9787775	0.96[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes]
rs9787897	0.83[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:18)

SNP	Gene	Cis/trans	Tissue	Source
rs11236290	XRRA1	cis	Muscle Skeletal	GTEx
rs11236290	XRRA1	cis	lung	GTEx
rs11236290	XRRA1	cis	Nerve Tibial	GTEx
rs11236290	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs11236290	XRRA1	cis	Heart Left Ventricle	GTEx
rs11236290	XRRA1	cis	Stomach	GTEx
rs11236290	XRRA1	cis	Esophagus Muscularis	GTEx
rs11236290	XRRA1	cis	Artery Tibial	GTEx
rs11236290	RP11-147I3.1	cis	Thyroid	GTEx
rs11236290	XRRA1	cis	normal skin	skin_eQTL
rs11236290	XRRA1	cis	Thyroid	GTEx
rs11236290	XRRA1	cis	lesional skin	skin_eQTL
rs11236290	XRRA1	cis	Whole Blood	GTEx
rs11236290	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs11236290	XRRA1	cis	Adipose Subcutaneous	GTEx
rs11236290	XRRA1	cis	Artery Aorta	GTEx
rs11236290	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs11236290	XRRA1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74718000-74733800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:74718000-74734200	Weak transcription	Right Ventricle	heart
3	chr11:74718200-74729200	Weak transcription	Gastric	stomach
4	chr11:74718400-74729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:74719400-74728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:74721600-74733400	Weak transcription	Pancreas	Pancrea
7	chr11:74721600-74734200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:74721600-74734200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:74721600-74734200	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:74721600-74734200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:74721600-74734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:74721800-74729400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:74722800-74730200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:74723400-74730200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:74723600-74729400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:74723600-74731800	Weak transcription	Left Ventricle	heart
17	chr11:74723800-74729200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:74723800-74733800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:74724000-74734200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:74724200-74730400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:74724400-74730200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:74724600-74730800	Weak transcription	Fetal Stomach	stomach
23	chr11:74724600-74735400	Weak transcription	Aorta	Aorta
24	chr11:74725000-74730200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:74725400-74729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:74725400-74731000	Weak transcription	Liver	Liver
27	chr11:74725600-74728600	Weak transcription	Primary B cells from cord blood	blood
28	chr11:74725600-74728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:74725600-74730200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:74725600-74737000	Weak transcription	Thymus	Thymus
31	chr11:74726000-74732000	Weak transcription	Fetal Heart	heart
32	chr11:74726600-74746400	Weak transcription	GM12878-XiMat	blood
33	chr11:74727400-74728600	Weak transcription	Fetal Thymus	thymus
34	chr11:74727600-74731800	Weak transcription	Psoas Muscle	Psoas
35	chr11:74727600-74731800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:74728000-74729800	Weak transcription	Primary T cells from cord blood	blood
37	chr11:74728200-74729800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:74728200-74731600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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