Variant report

Variant	rs3784191
Chromosome Location	chr14:32923290-32923291
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	chr14:32901776..32904730-chr14:32922169..32924745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10130628	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10138310	0.87[ASW][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs10139831	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141958	1.00[ASW][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11628508	0.88[ASN][1000 genomes]
rs1951189	0.86[JPT][hapmap]
rs1951191	0.81[ASN][1000 genomes]
rs1957015	0.82[JPT][hapmap]
rs1957018	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs1957021	0.93[ASN][1000 genomes]
rs2145594	0.81[ASN][1000 genomes]
rs2224430	0.87[JPT][hapmap]
rs3784192	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3784193	1.00[ASN][1000 genomes]
rs3784194	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6571515	0.86[AFR][1000 genomes]
rs6571516	0.93[AFR][1000 genomes]
rs6571518	0.80[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6571522	0.82[ASN][1000 genomes]
rs6571523	0.82[ASN][1000 genomes]
rs6571524	0.82[ASN][1000 genomes]
rs6571525	0.81[ASN][1000 genomes]
rs7140949	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs7143943	0.83[ASN][1000 genomes]
rs7147629	0.81[ASN][1000 genomes]
rs7149947	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7157869	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8013186	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes]
rs8013463	0.81[ASN][1000 genomes]
rs941744	0.85[YRI][hapmap]
rs941746	0.81[CHD][hapmap];0.82[JPT][hapmap]

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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3784191	GAA	trans	parietal	SCAN
rs3784191	SRP54	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32909000-32923400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:32919200-32926400	Weak transcription	NHDF-Ad	bronchial
3	chr14:32919400-32923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:32919600-32926800	Weak transcription	Aorta	Aorta
5	chr14:32919800-32926200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:32920800-32923400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:32920800-32926200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:32920800-32926600	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:32920800-32930200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:32921600-32926400	Weak transcription	Brain Substantia Nigra	brain
11	chr14:32921800-32923800	Enhancers	Fetal Lung	lung
12	chr14:32922200-32923600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:32922200-32923800	Enhancers	Colon Smooth Muscle	Colon
14	chr14:32922400-32923800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:32923000-32923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:32923000-32923800	Enhancers	HepG2	liver
17	chr14:32923200-32923400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:32923200-32923400	Flanking Active TSS	Fetal Heart	heart
19	chr14:32923200-32923600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:32923200-32923600	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:32923200-32923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:32923200-32923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:32923200-32923800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:32923200-32923800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:32923200-32923800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:32923200-32923800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:32923200-32923800	Enhancers	Right Atrium	heart
28	chr14:32923200-32923800	Enhancers	HMEC	breast
29	chr14:32923200-32923800	Enhancers	NHEK	skin
30	chr14:32923200-32923800	Enhancers	Osteobl	bone

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