Variant report

Variant	rs10135053
Chromosome Location	chr14:33128226-33128227
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	chr14:33121885..33124739-chr14:33125930..33128750,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10130459	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1033678	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625087	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12717222	0.81[EUR][1000 genomes]
rs12896132	0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap]
rs1884618	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1956203	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981992	0.93[GIH][hapmap]
rs4981995	0.88[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs6571547	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571548	1.00[CHB][hapmap];0.93[GIH][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7152044	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153048	0.89[CHB][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7156763	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157533	0.90[GIH][hapmap]
rs7157744	0.90[GIH][hapmap]
rs7160156	0.93[GIH][hapmap]
rs927060	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10135053	NUBPL	cis	parietal	SCAN
rs10135053	STRN3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33107000-33130600	Weak transcription	Left Ventricle	heart
2	chr14:33113800-33130600	Weak transcription	Right Ventricle	heart
3	chr14:33115000-33134400	Weak transcription	Psoas Muscle	Psoas
4	chr14:33117800-33149200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:33121000-33134200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:33126400-33129400	Weak transcription	Right Atrium	heart
7	chr14:33126400-33132800	Weak transcription	Esophagus	oesophagus
8	chr14:33126600-33131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:33126600-33134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:33126800-33130200	Weak transcription	HSMMtube	muscle
11	chr14:33126800-33130400	Weak transcription	Aorta	Aorta
12	chr14:33126800-33131200	Weak transcription	Osteobl	bone
13	chr14:33126800-33131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:33126800-33131600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:33126800-33131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:33127200-33131600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:33127400-33129400	Weak transcription	NHDF-Ad	bronchial
18	chr14:33127400-33130600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:33127400-33131400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:33127400-33131600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:33127400-33136200	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:33127600-33131000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:33127600-33131400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:33128000-33128600	Enhancers	Brain Substantia Nigra	brain
25	chr14:33128200-33128800	Enhancers	Fetal Heart	heart

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