Variant report

Variant	rs7943884
Chromosome Location	chr11:18088946-18088947
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	chr11:18083345..18085878-chr11:18088816..18091112,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10488682	0.80[CEU][hapmap]
rs10500831	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832880	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832882	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024445	0.80[CEU][hapmap]
rs11024449	0.83[CEU][hapmap]
rs11024458	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024460	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11024461	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024468	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024474	0.82[CHB][hapmap]
rs11024476	0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024478	0.89[CHB][hapmap]
rs11024482	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs11024484	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024485	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11024493	0.85[EUR][1000 genomes]
rs12280934	0.88[AFR][1000 genomes]
rs12360537	0.81[CHB][hapmap]
rs12363226	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12364327	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12792460	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1399025	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1975777	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs2085275	0.85[JPT][hapmap]
rs2468842	0.81[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs35447333	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741199	0.81[CHB][hapmap]
rs4052539	0.83[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4756930	0.81[CHB][hapmap]
rs5790015	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61882530	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6486406	0.81[CEU][hapmap];0.92[JPT][hapmap]
rs7117439	0.96[EUR][1000 genomes]
rs7118373	0.96[EUR][1000 genomes]
rs7119063	0.81[CHB][hapmap]
rs7131255	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7131454	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7929920	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933259	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7934091	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7935867	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7942794	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7943725	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7946201	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs871699	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs907922	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs964834	0.81[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
rs7943884	SAAL1	cis	Esophagus Muscularis	GTEx
rs7943884	SAAL1	cis	lung	GTEx
rs7943884	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs7943884	MRGPRX3	cis	lesional skin	skin_eQTL
rs7943884	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs7943884	SAAL1	cis	Artery Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:18081400-18100400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:18083200-18109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:18083400-18102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18084800-18090200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:18084800-18108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:18085200-18097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
10	chr11:18085400-18093800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:18085600-18101000	Weak transcription	Thymus	Thymus
12	chr11:18085600-18102000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:18085800-18095600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:18085800-18095800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:18085800-18100600	Weak transcription	Fetal Kidney	kidney
16	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
17	chr11:18086000-18095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:18086000-18100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:18086000-18101000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
21	chr11:18086200-18100600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:18086400-18107600	Weak transcription	Lung	lung
23	chr11:18086600-18100600	Weak transcription	Liver	Liver
24	chr11:18087400-18099800	Weak transcription	Dnd41	blood
25	chr11:18087400-18100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:18087400-18109800	Weak transcription	Gastric	stomach
27	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
28	chr11:18087600-18093800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:18087600-18099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:18087600-18100400	Weak transcription	HMEC	breast
31	chr11:18087600-18102400	Weak transcription	Brain Germinal Matrix	brain
32	chr11:18087600-18105200	Weak transcription	NHEK	skin
33	chr11:18087800-18100400	Weak transcription	Fetal Brain Female	brain
34	chr11:18087800-18100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:18088200-18100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:18088600-18100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:18088800-18101200	Weak transcription	Ovary	ovary

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