Variant report

Variant	rs11024491
Chromosome Location	chr11:18126491-18126492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:
2	chr11:18113148..18115855-chr11:18125984..18127640,2	MCF-7	breast:
3	chr11:18033485..18036057-chr11:18124716..18127536,3	MCF-7	breast:
4	chr11:18123661..18126675-chr11:18127430..18129709,3	K562	blood:
5	chr11:18120429..18123330-chr11:18124710..18127285,2	K562	blood:
6	chr11:18121947..18124266-chr11:18125749..18127419,2	MCF-7	breast:
7	chr11:18034152..18035903-chr11:18125561..18127722,2	MCF-7	breast:
8	chr11:18118808..18120396-chr11:18125580..18127566,2	K562	blood:

No data

Variant related genes	Relation type
HIGD1AP5	TF binding region
ENSG00000166788	Chromatin interaction
ENSG00000255254	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10741736	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10766453	0.96[EUR][1000 genomes]
rs10766457	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832881	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024462	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11024467	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024469	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024470	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024472	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024474	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024475	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024477	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024478	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024487	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024488	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024489	0.82[ASN][1000 genomes]
rs11024492	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360537	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365158	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365751	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417591	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1399025	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1824018	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1980096	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980097	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2085275	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2124378	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271533	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403246	0.92[EUR][1000 genomes]
rs3741199	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4287320	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4756930	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4757613	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56001925	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61882529	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486406	0.88[ASN][1000 genomes]
rs7102017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7103885	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104168	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104856	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106970	0.96[EUR][1000 genomes]
rs7113855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118250	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7119063	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129345	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931522	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933593	0.91[EUR][1000 genomes]
rs7936469	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7936878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7939791	0.95[EUR][1000 genomes]
rs7943526	0.96[EUR][1000 genomes]
rs7944348	0.96[EUR][1000 genomes]
rs871699	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907922	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964833	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs964834	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs964835	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11024491	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024491	SERGEF	Cis_1M	lymphoblastoid	RTeQTL
rs11024491	SAAL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18111000-18126600	Weak transcription	Right Ventricle	heart
2	chr11:18116000-18127000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:18116200-18126600	Weak transcription	Psoas Muscle	Psoas
4	chr11:18117600-18126800	Weak transcription	Colonic Mucosa	Colon
5	chr11:18118200-18126800	Weak transcription	Esophagus	oesophagus
6	chr11:18121600-18126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:18123800-18126600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:18124200-18127200	Weak transcription	Spleen	Spleen
9	chr11:18124800-18126800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:18124800-18127000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18125000-18126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:18125000-18126600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:18125200-18126600	Weak transcription	Placenta	Placenta
14	chr11:18125200-18126600	Weak transcription	Left Ventricle	heart
15	chr11:18125200-18126600	Weak transcription	Lung	lung
16	chr11:18125200-18126600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:18125200-18126800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:18125200-18126800	Weak transcription	HSMMtube	muscle
19	chr11:18125200-18127000	Weak transcription	Aorta	Aorta
20	chr11:18125400-18126600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:18125400-18126600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:18125400-18126600	Weak transcription	Pancreas	Pancrea
23	chr11:18125400-18126800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:18125400-18126800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:18125600-18126600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:18125800-18126600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:18125800-18126800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:18125800-18126800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:18125800-18127000	Flanking Active TSS	Dnd41	blood
30	chr11:18125800-18128000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:18126000-18126600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:18126000-18126600	Enhancers	Adipose Nuclei	Adipose
33	chr11:18126000-18126600	Enhancers	Brain Angular Gyrus	brain
34	chr11:18126000-18126600	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:18126000-18126600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:18126000-18126600	Flanking Active TSS	Fetal Brain Male	brain
37	chr11:18126000-18126600	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:18126000-18126600	Enhancers	Fetal Stomach	stomach
39	chr11:18126000-18126600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:18126000-18126600	Flanking Active TSS	HepG2	liver
41	chr11:18126000-18126600	Enhancers	HUVEC	blood vessel
42	chr11:18126000-18126800	Enhancers	Primary B cells from peripheral blood	blood
43	chr11:18126000-18126800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:18126000-18126800	Enhancers	Brain Hippocampus Middle	brain
45	chr11:18126000-18126800	Enhancers	Colon Smooth Muscle	Colon
46	chr11:18126000-18126800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:18126000-18127000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:18126000-18127800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:18126000-18128000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:18126000-18128200	Active TSS	A549	lung

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