Variant report

Variant	rs7149133
Chromosome Location	chr14:68189934-68189935
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
2	chr14:68189219..68191314-chr14:68202180..68203720,2	MCF-7	breast:
3	chr14:68189527..68192099-chr14:68196390..68198301,2	K562	blood:
4	chr14:68186603..68190707-chr14:68192396..68197182,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1044126	0.82[ASN][1000 genomes]
rs11158687	0.91[ASN][1000 genomes]
rs11158688	0.89[ASN][1000 genomes]
rs1117516	0.95[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs11622069	0.89[ASN][1000 genomes]
rs11629160	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11849521	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs11849620	0.82[ASN][1000 genomes]
rs17782603	0.95[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs17782775	0.91[ASN][1000 genomes]
rs1955468	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2057119	0.91[CEU][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2295111	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2320027	0.87[ASN][1000 genomes]
rs3759763	0.95[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3784087	0.84[ASN][1000 genomes]
rs4902507	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55711201	0.89[ASN][1000 genomes]
rs55790812	0.84[ASN][1000 genomes]
rs55919049	0.89[ASN][1000 genomes]
rs56038131	0.84[ASN][1000 genomes]
rs56233923	0.83[ASN][1000 genomes]
rs56385621	0.87[ASN][1000 genomes]
rs56412443	0.83[ASN][1000 genomes]
rs61986978	0.91[ASN][1000 genomes]
rs61991864	0.89[ASN][1000 genomes]
rs61991865	0.87[ASN][1000 genomes]
rs61991866	0.90[ASN][1000 genomes]
rs742866	0.82[ASN][1000 genomes]
rs742869	0.95[CHD][hapmap];0.89[JPT][hapmap]

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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7149133	ESR2	cis	parietal	SCAN
rs7149133	EIF2S1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68188800-68190200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:68189200-68190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:68189200-68190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:68189200-68190000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68189400-68200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:68189600-68191200	Weak transcription	Esophagus	oesophagus
8	chr14:68189600-68192000	Weak transcription	Pancreas	Pancrea
9	chr14:68189600-68195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:68189600-68196000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:68189600-68196400	Weak transcription	Brain Anterior Caudate	brain
12	chr14:68189800-68190000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr14:68189800-68190200	Weak transcription	Stomach Mucosa	stomach
14	chr14:68189800-68191800	Weak transcription	Placenta	Placenta
15	chr14:68189800-68195000	Weak transcription	Liver	Liver
16	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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