Variant report

Variant	rs12286894
Chromosome Location	chr11:64153161-64153162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64132740..64134485-chr11:64152272..64154875,2	MCF-7	breast:
2	chr11:64151479..64154106-chr11:64156767..64158653,2	K562	blood:
3	chr11:64125281..64129339-chr11:64152102..64154169,4	K562	blood:

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10897489	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3782101	0.92[YRI][hapmap]
rs620690	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621941	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6591843	0.88[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
4	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12286894	C11orf95	cis	parietal	SCAN
rs12286894	FKBP2	cis	cerebellum	SCAN
rs12286894	ARL2	cis	parietal	SCAN
rs12286894	TRMT112	cis	parietal	SCAN
rs12286894	FKBP2	cis	parietal	SCAN
rs12286894	ZDHHC24	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64149400-64153800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:64149800-64153200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64150600-64163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64151000-64155200	Enhancers	Placenta	Placenta
8	chr11:64151200-64154200	Enhancers	Fetal Heart	heart
9	chr11:64151400-64153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:64151400-64153400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:64151600-64153400	Enhancers	Aorta	Aorta
12	chr11:64151600-64153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:64151600-64153800	Enhancers	Right Ventricle	heart
14	chr11:64151600-64154000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:64151600-64154000	Enhancers	Right Atrium	heart
16	chr11:64151600-64155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:64151800-64153400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:64152400-64153600	Enhancers	Colon Smooth Muscle	Colon
19	chr11:64152400-64154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:64152400-64154600	Enhancers	Fetal Thymus	thymus
21	chr11:64152600-64153200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:64152600-64153600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:64152600-64153600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr11:64152600-64153800	Enhancers	Rectal Smooth Muscle	rectum
25	chr11:64152600-64154000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:64152600-64154000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:64152800-64153200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:64152800-64153200	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:64152800-64153200	Enhancers	Brain Hippocampus Middle	brain
33	chr11:64152800-64153400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:64152800-64153400	Enhancers	Left Ventricle	heart
35	chr11:64152800-64153600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:64152800-64153600	Enhancers	Spleen	Spleen
37	chr11:64152800-64153800	Weak transcription	Hela-S3	cervix
38	chr11:64152800-64154200	Enhancers	Primary B cells from cord blood	blood
39	chr11:64152800-64154400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:64152800-64155000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:64153000-64153200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:64153000-64153200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:64153000-64154200	Enhancers	Primary B cells from peripheral blood	blood

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