Variant report

Variant	rs73268012
Chromosome Location	chr14:55522738-55522739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55492393..55493903-chr14:55522048..55524058,2	K562	blood:
2	chr14:55520859..55523802-chr14:55596862..55599089,2	MCF-7	breast:
3	chr14:55487384..55490083-chr14:55522243..55524186,2	MCF-7	breast:
4	chr14:55519592..55523074-chr14:55547294..55549718,3	K562	blood:
5	chr14:55520461..55523656-chr14:55547277..55549702,3	K562	blood:
6	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
7	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
8	chr14:55522230..55525197-chr14:55589404..55592013,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198554	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000180008	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17253660	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1952438	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147968	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28489980	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147753	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs749053	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8004724	0.87[AMR][1000 genomes];0.93[EUR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
2	chr14:55519400-55524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:55519400-55524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
5	chr14:55519600-55522800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:55519600-55523000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr14:55519600-55524600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55519600-55524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:55519600-55528600	Weak transcription	Colonic Mucosa	Colon
10	chr14:55519600-55529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:55519600-55529400	Weak transcription	Esophagus	oesophagus
12	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:55519800-55523200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:55519800-55523400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:55519800-55524200	Weak transcription	Lung	lung
17	chr14:55519800-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:55520000-55522800	Enhancers	Small Intestine	intestine
19	chr14:55520000-55523800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:55520000-55526000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:55520000-55528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:55520000-55529400	Weak transcription	Aorta	Aorta
23	chr14:55520000-55529400	Weak transcription	Fetal Brain Female	brain
24	chr14:55520200-55528000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:55520200-55528400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:55520200-55529000	Weak transcription	Brain Anterior Caudate	brain
27	chr14:55520200-55529000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:55520200-55529200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:55520200-55529600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
31	chr14:55520400-55523000	Genic enhancers	HUVEC	blood vessel
32	chr14:55520400-55524600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:55520400-55524600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:55520400-55526000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:55520400-55526600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:55520400-55529000	Weak transcription	Brain Germinal Matrix	brain
37	chr14:55520400-55538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:55520600-55522800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:55520600-55522800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:55520600-55523200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr14:55520600-55523400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:55520600-55524200	Weak transcription	Thymus	Thymus
43	chr14:55520600-55524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55520600-55524600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:55520600-55526600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:55520600-55528400	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:55520600-55528600	Weak transcription	Stomach Mucosa	stomach
48	chr14:55520600-55528600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:55520600-55529000	Weak transcription	Fetal Lung	lung
50	chr14:55520600-55529000	Weak transcription	Rectal Smooth Muscle	rectum

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