Variant report

Variant	rs11545205
Chromosome Location	chr2:36821611-36821612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256845	Chromatin interaction
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10205290	0.81[ASN][1000 genomes]
rs11886145	0.83[EUR][1000 genomes]
rs13013664	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1548894	0.85[ASN][1000 genomes]
rs2110985	0.85[ASN][1000 genomes]
rs2888372	0.90[ASN][1000 genomes]
rs3770785	0.87[ASN][1000 genomes]
rs4670151	0.80[ASN][1000 genomes]
rs6544014	0.82[ASN][1000 genomes]
rs6729495	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6756508	0.83[ASN][1000 genomes]
rs744917	0.86[ASN][1000 genomes]
rs7560321	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7577490	0.83[ASN][1000 genomes]
rs7580827	0.82[ASN][1000 genomes]
rs918068	0.83[ASN][1000 genomes]
rs9941555	0.87[ASN][1000 genomes]
rs9967785	0.84[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11545205	FEZ2	cis	cerebellar cortex	BrainEAC

Chromatin state (count:118 , 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	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
6	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
8	chr2:36808800-36822400	Weak transcription	Stomach Mucosa	stomach
9	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
11	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
12	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:36810800-36822200	Weak transcription	Fetal Brain Male	brain
15	chr2:36811000-36822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:36811400-36821800	Weak transcription	Colonic Mucosa	Colon
17	chr2:36811400-36822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36811400-36822600	Weak transcription	Gastric	stomach
19	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
21	chr2:36811600-36822200	Weak transcription	Thymus	Thymus
22	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
23	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:36812200-36821800	Weak transcription	NHEK	skin
25	chr2:36812200-36822200	Weak transcription	Esophagus	oesophagus
26	chr2:36812200-36822200	Weak transcription	Ovary	ovary
27	chr2:36812200-36822600	Weak transcription	Brain Germinal Matrix	brain
28	chr2:36812200-36823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:36812200-36823200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:36812200-36823400	Weak transcription	Lung	lung
31	chr2:36812200-36824000	Weak transcription	HSMMtube	muscle
32	chr2:36812400-36821800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:36812400-36822000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:36813400-36823600	Weak transcription	Hela-S3	cervix
35	chr2:36814600-36821800	Weak transcription	GM12878-XiMat	blood
36	chr2:36814600-36823000	Weak transcription	Left Ventricle	heart
37	chr2:36814600-36823400	Weak transcription	Fetal Stomach	stomach
38	chr2:36815000-36822800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:36815600-36823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:36816600-36822400	Weak transcription	Fetal Brain Female	brain
41	chr2:36816800-36823200	Weak transcription	Right Atrium	heart
42	chr2:36816800-36823200	Weak transcription	NHLF	lung
43	chr2:36816800-36823600	Weak transcription	Fetal Heart	heart
44	chr2:36817200-36821800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:36817200-36823200	Weak transcription	Primary T cells from cord blood	blood
46	chr2:36817400-36821800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:36817400-36822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:36817400-36822000	Weak transcription	Fetal Lung	lung
49	chr2:36817400-36822200	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:36817400-36822600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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