Variant report

Variant	rs7552562
Chromosome Location	chr1:166876079-166876080
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	chr1:166843791..166846527-chr1:166873714..166876670,3	MCF-7	breast:
2	chr1:166873258..166876208-chr1:167028001..167029917,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1053407	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10800271	0.86[EUR][1000 genomes]
rs10800275	0.84[EUR][1000 genomes]
rs11582566	0.96[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12117020	0.93[GIH][hapmap]
rs2013526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072741	0.85[CEU][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2075981	0.89[TSI][hapmap]
rs2075982	0.85[CEU][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2312238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2837	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402031	0.82[AMR][1000 genomes]
rs453395	0.83[AMR][1000 genomes]
rs4657614	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427038	0.91[EUR][1000 genomes]
rs6427046	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6688277	0.98[EUR][1000 genomes]
rs6690192	0.88[CEU][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs7532247	0.88[EUR][1000 genomes]
rs926266	0.87[GIH][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7552562	ANKRD36BP1	cis	parietal	SCAN
rs7552562	MAEL	cis	parietal	SCAN
rs7552562	MAEL	cis	lymphoblastoid	seeQTL
rs7552562	MAEL	cis	Nerve Tibial	GTEx
rs7552562	TBX19	cis	cerebellum	SCAN
rs7552562	MAEL	cis	multi-tissue	Pritchard
rs7552562	MAEL	cis	Thyroid	GTEx
rs7552562	MAEL	cis	Esophagus Muscularis	GTEx
rs7552562	DUTP6	cis	Artery Aorta	GTEx
rs7552562	DUSP12	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166867200-166876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:166872800-166877000	Weak transcription	GM12878-XiMat	blood
3	chr1:166873000-166877000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:166873000-166877000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:166873200-166877000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:166873200-166877000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:166873400-166876600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:166873600-166876600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:166873800-166876400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:166873800-166876400	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:166873800-166877200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:166874000-166876200	Enhancers	HSMM	muscle
13	chr1:166874000-166876600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:166874600-166876200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:166874600-166876200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:166875200-166876200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:166875400-166876400	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:166875600-166876400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:166875600-166876400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:166875600-166877000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:166875600-166878400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:166875600-166880000	Weak transcription	NHEK	skin
23	chr1:166875800-166876200	Flanking Active TSS	HSMMtube	muscle
24	chr1:166875800-166878800	Enhancers	Placenta	Placenta
25	chr1:166875800-166880000	Weak transcription	HMEC	breast
26	chr1:166876000-166876200	Enhancers	NH-A	brain
27	chr1:166876000-166877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:166876000-166877200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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