Variant report

Variant	rs73276810
Chromosome Location	chr14:55249212-55249213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:55248972-55249559	HepG2	liver:	n/a	chr14:55249035-55249046 chr14:55249458-55249473 chr14:55249035-55249046
2	MAFK	chr14:55248887-55249630	HepG2	liver:	n/a	chr14:55249035-55249046 chr14:55249458-55249473 chr14:55249035-55249046
3	MAFK	chr14:55248915-55249512	IMR90	lung:	n/a	chr14:55249035-55249046 chr14:55249458-55249473 chr14:55249035-55249046
4	SPI1	chr14:55249172-55250029	GM12878	blood:	n/a	chr14:55249739-55249746 chr14:55249943-55249956
5	MTA3	chr14:55249116-55249857	GM12878	blood:	n/a	n/a
6	MAFF	chr14:55248939-55249523	HepG2	liver:	n/a	chr14:55249033-55249051

No.	Distal block	Cell Line	Cell type
1	chr14:55242080..55244938-chr14:55248387..55250680,2	K562	blood:
2	chr14:55240690..55243646-chr14:55248203..55250215,2	MCF-7	breast:
3	chr14:55032211..55035053-chr14:55247585..55250738,3	MCF-7	breast:
4	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
5	chr14:55238492..55240142-chr14:55247225..55249555,2	K562	blood:

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13329058	0.83[ASN][1000 genomes]
rs17127987	0.83[ASN][1000 genomes]
rs17127998	0.83[ASN][1000 genomes]
rs17128017	0.83[ASN][1000 genomes]
rs17253577	0.83[ASN][1000 genomes]
rs55786710	0.83[ASN][1000 genomes]
rs58292420	1.00[ASN][1000 genomes]
rs60407360	0.83[ASN][1000 genomes]
rs60481635	0.83[ASN][1000 genomes]
rs7147200	0.83[ASN][1000 genomes]
rs7153186	0.83[ASN][1000 genomes]
rs7153566	0.83[ASN][1000 genomes]
rs73276819	1.00[ASN][1000 genomes]
rs73278756	0.83[ASN][1000 genomes]
rs73278762	0.83[ASN][1000 genomes]
rs73278771	0.83[ASN][1000 genomes]
rs73278793	0.83[ASN][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240000-55250400	Strong transcription	HepG2	liver
3	chr14:55240600-55251200	Weak transcription	Gastric	stomach
4	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
8	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
9	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:55241000-55256400	Weak transcription	Ovary	ovary
17	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:55241200-55257600	Weak transcription	K562	blood
22	chr14:55241200-55272200	Weak transcription	A549	lung
23	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55243400-55251000	Weak transcription	Brain Substantia Nigra	brain
25	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:55243600-55250000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:55243600-55250800	Strong transcription	Colon Smooth Muscle	Colon
29	chr14:55243600-55251000	Weak transcription	Brain Anterior Caudate	brain
30	chr14:55243600-55253600	Weak transcription	Thymus	Thymus
31	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:55243800-55251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:55243800-55253200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:55243800-55258000	Strong transcription	HUVEC	blood vessel
36	chr14:55244000-55249400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:55244000-55249600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:55244000-55250200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:55244000-55250200	Strong transcription	HSMM	muscle
40	chr14:55244000-55257400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:55244000-55257400	Strong transcription	NHEK	skin
42	chr14:55244000-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:55244200-55250200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:55244200-55251400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:55244200-55252200	Strong transcription	Osteobl	bone
46	chr14:55244200-55253000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:55244200-55257800	Strong transcription	HSMMtube	muscle
48	chr14:55244200-55258000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:55244200-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:55244400-55250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links