Variant report

Variant	rs11024476
Chromosome Location	chr11:18114579-18114580
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:6)
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	FOS	chr11:18114542-18114741	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18113148..18115855-chr11:18125984..18127640,2	MCF-7	breast:
2	chr11:18105565..18107407-chr11:18114398..18116399,2	K562	blood:
3	chr11:18102086..18103945-chr11:18110453..18114636,4	K562	blood:
4	chr11:18114312..18117170-chr11:18118246..18120137,2	K562	blood:
5	chr11:18107232..18110048-chr11:18114396..18116772,2	MCF-7	breast:
6	chr11:18101916..18104550-chr11:18109024..18114636,6	K562	blood:

No data

Variant related genes	Relation type
SAAL1	TF binding region
ENSG00000166788	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10500831	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832880	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832882	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024458	0.86[EUR][1000 genomes]
rs11024460	0.94[EUR][1000 genomes]
rs11024461	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024474	1.00[CHB][hapmap]
rs11024478	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11024482	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024484	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024485	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024489	0.90[ASN][1000 genomes]
rs11024493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12360537	1.00[CHB][hapmap]
rs12363226	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364327	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792460	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1399025	1.00[CHB][hapmap]
rs1824017	0.80[ASN][1000 genomes]
rs1975777	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2085275	0.84[CHB][hapmap]
rs2168361	0.96[ASN][1000 genomes]
rs2263407	0.88[ASN][1000 genomes]
rs2468832	0.82[ASN][1000 genomes]
rs2468841	0.88[ASN][1000 genomes]
rs2468842	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2956631	0.86[ASN][1000 genomes]
rs35447333	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3741199	1.00[CHB][hapmap]
rs4052539	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs4756930	1.00[CHB][hapmap]
rs5790015	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882530	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117439	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119063	1.00[CHB][hapmap]
rs7131255	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131454	0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929920	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7933259	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934091	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942794	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943725	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7943884	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs871699	1.00[CHB][hapmap]
rs907922	1.00[CHB][hapmap]
rs907923	0.98[ASN][1000 genomes]
rs964834	1.00[CHB][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11024476	SAAL1	cis	lung	GTEx
rs11024476	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs11024476	SAAL1	cis	Artery Tibial	GTEx
rs11024476	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024476	SAAL1	cis	Adipose Subcutaneous	GTEx
rs11024476	SAAL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
2	chr11:18096400-18118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:18099600-18114800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:18099800-18118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:18099800-18124800	Strong transcription	Dnd41	blood
8	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
9	chr11:18100400-18118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:18100600-18117600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:18100600-18118200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:18100600-18125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:18100800-18126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:18101000-18122000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:18102200-18117800	Strong transcription	HSMM	muscle
17	chr11:18102400-18118400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:18103200-18114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:18103400-18126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:18104800-18125200	Strong transcription	Primary T cells from cord blood	blood
21	chr11:18104800-18125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:18105000-18118200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:18105000-18118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:18105200-18118200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:18105200-18118400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:18105200-18118600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:18105400-18119000	Strong transcription	HMEC	breast
28	chr11:18105400-18125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:18105800-18118600	Strong transcription	Fetal Thymus	thymus
30	chr11:18106000-18117800	Strong transcription	Adipose Nuclei	Adipose
31	chr11:18107200-18126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:18107400-18115000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:18107400-18115400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:18107400-18116200	Strong transcription	Fetal Lung	lung
35	chr11:18107400-18118200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:18107400-18118400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:18107400-18121600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:18107400-18125800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:18107600-18118200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:18107600-18118400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:18107600-18118600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:18107600-18125400	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:18107800-18126200	Weak transcription	NHDF-Ad	bronchial
44	chr11:18108000-18114600	Weak transcription	Esophagus	oesophagus
45	chr11:18108200-18115200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:18108200-18115200	Weak transcription	Fetal Intestine Small	intestine
47	chr11:18108200-18125200	Strong transcription	Primary B cells from cord blood	blood
48	chr11:18108400-18117600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:18108600-18117800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:18108600-18122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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