Variant report

Variant	rs73278338
Chromosome Location	chr14:68923386-68923387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68829901..68834300-chr14:68923345..68927378,4	MCF-7	breast:
2	chr14:68863291..68866067-chr14:68920468..68924017,3	MCF-7	breast:
3	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
4	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
5	chr14:68918175..68920737-chr14:68921753..68924276,3	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17105456	1.00[AMR][1000 genomes]
rs17105630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34574981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35474337	1.00[AMR][1000 genomes]
rs4346147	1.00[AMR][1000 genomes]
rs57806531	1.00[AMR][1000 genomes]
rs58650874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58925277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60012660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60443209	1.00[AMR][1000 genomes]
rs61064711	1.00[AMR][1000 genomes]
rs73278308	1.00[AMR][1000 genomes]
rs73278318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278352	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68915400-68924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68915600-68925400	Weak transcription	Colonic Mucosa	Colon
3	chr14:68916600-68924800	Weak transcription	Fetal Kidney	kidney
4	chr14:68916800-68925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68918600-68925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:68918800-68924600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:68918800-68925600	Weak transcription	Left Ventricle	heart
8	chr14:68919000-68924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:68921400-68924600	Weak transcription	HepG2	liver
10	chr14:68921600-68925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:68921800-68924800	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:68921800-68925600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:68921800-68925600	Weak transcription	Psoas Muscle	Psoas
14	chr14:68921800-68925800	Weak transcription	Aorta	Aorta
15	chr14:68922000-68925600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:68922000-68925600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:68922000-68925600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68922000-68925800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:68923200-68923600	Weak transcription	A549	lung

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