Variant report

Variant	rs11124519
Chromosome Location	chr2:36816775-36816776
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36809008..36811077-chr2:36815075..36817974,3	MCF-7	breast:
2	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10175266	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10178965	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10180760	0.88[EUR][1000 genomes]
rs10180792	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10189554	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10194100	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10197570	0.81[EUR][1000 genomes]
rs10210291	0.82[EUR][1000 genomes]
rs10469897	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10469898	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11686443	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11691600	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11693359	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12105545	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13029475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13385408	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13398345	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13406169	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13406184	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13410783	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs14291	0.85[EUR][1000 genomes]
rs1523786	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1533946	0.89[EUR][1000 genomes]
rs1533947	0.84[EUR][1000 genomes]
rs1533948	0.89[EUR][1000 genomes]
rs1533949	0.86[EUR][1000 genomes]
rs17019087	0.89[EUR][1000 genomes]
rs17488036	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2022211	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2072533	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2072534	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2072535	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2075226	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2110986	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2110987	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2160403	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2160404	0.87[EUR][1000 genomes]
rs34392255	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34425257	0.85[EUR][1000 genomes]
rs3770788	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770797	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3770799	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3770809	0.89[EUR][1000 genomes]
rs3770811	0.89[EUR][1000 genomes]
rs5003670	0.84[EUR][1000 genomes]
rs55700228	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57670037	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6728602	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs848610	0.94[EUR][1000 genomes]
rs848611	0.95[EUR][1000 genomes]
rs848612	0.91[EUR][1000 genomes]
rs848613	0.90[EUR][1000 genomes]
rs848614	0.84[EUR][1000 genomes]
rs848616	0.85[EUR][1000 genomes]
rs848619	0.84[EUR][1000 genomes]
rs848624	0.81[EUR][1000 genomes]
rs848629	0.82[EUR][1000 genomes]
rs848630	0.82[EUR][1000 genomes]
rs848631	0.81[EUR][1000 genomes]
rs848635	0.80[EUR][1000 genomes]
rs848638	0.86[EUR][1000 genomes]
rs848639	0.87[EUR][1000 genomes]
rs848640	0.82[EUR][1000 genomes]
rs9917316	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9917318	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11124519	FEZ2	cis	Whole Blood	GTEx
rs11124519	FEZ2	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
3	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:36799200-36817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:36799200-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:36799200-36818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:36799800-36818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:36800200-36817600	Strong transcription	Liver	Liver
16	chr2:36801000-36817800	Strong transcription	HUVEC	blood vessel
17	chr2:36801600-36818000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:36801600-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:36801800-36817200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:36801800-36818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:36802000-36818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:36803600-36818000	Strong transcription	Dnd41	blood
24	chr2:36806400-36818400	Strong transcription	HepG2	liver
25	chr2:36806800-36818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:36807200-36818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
28	chr2:36808600-36818200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
31	chr2:36808800-36822400	Weak transcription	Stomach Mucosa	stomach
32	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
34	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
35	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:36810400-36818000	Strong transcription	A549	lung
37	chr2:36810400-36818400	Strong transcription	HSMM	muscle
38	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:36810800-36822200	Weak transcription	Fetal Brain Male	brain
40	chr2:36811000-36822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:36811400-36821800	Weak transcription	Colonic Mucosa	Colon
42	chr2:36811400-36822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:36811400-36822600	Weak transcription	Gastric	stomach
44	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
46	chr2:36811600-36818400	Strong transcription	Placenta	Placenta
47	chr2:36811600-36822200	Weak transcription	Thymus	Thymus
48	chr2:36811800-36818000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
50	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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