Variant report

Variant	rs45552031
Chromosome Location	chr14:69817730-69817731
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	CTCF	chr14:69817720-69817870	HCPEpiC	choroid plexus:	n/a	chr14:69817856-69817865 chr14:69817807-69817820 chr14:69817854-69817870
2	CTCF	chr14:69817709-69818002	GM12878	blood:	n/a	chr14:69817856-69817865 chr14:69817807-69817820 chr14:69817854-69817870

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69813462..69817985-chr14:69818569..69825719,9	MCF-7	breast:

Variant related genes	Relation type
GALNT16	TF binding region
ENSG00000100626	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs8007612	0.85[AFR][1000 genomes]
rs8016546	0.85[AFR][1000 genomes]
rs8016589	0.85[AFR][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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
2	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:69803400-69820800	Weak transcription	Esophagus	oesophagus
6	chr14:69806200-69818400	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:69807000-69821000	Weak transcription	Fetal Intestine Large	intestine
8	chr14:69808600-69818600	Weak transcription	Fetal Brain Male	brain
9	chr14:69808600-69821600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
11	chr14:69810200-69818000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:69810200-69821600	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:69810200-69822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:69812200-69821600	Weak transcription	Aorta	Aorta
15	chr14:69813400-69821000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:69813800-69819600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69814200-69818400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:69815200-69818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:69815400-69819400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:69815400-69821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:69815600-69821200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
23	chr14:69816000-69818200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:69816400-69821800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:69816400-69822200	Weak transcription	Right Ventricle	heart
26	chr14:69816800-69819000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:69817000-69818200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:69817200-69818200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:69817200-69819200	Strong transcription	Left Ventricle	heart
30	chr14:69817200-69821800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:69817400-69818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:69817400-69818400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69817400-69818800	Weak transcription	Fetal Brain Female	brain
34	chr14:69817400-69819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:69817600-69817800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:69817600-69818400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:69817600-69818400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:69817600-69818800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:69817600-69819000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr14:69817600-69822600	Weak transcription	Fetal Stomach	stomach
41	chr14:69817600-69823000	Enhancers	Primary B cells from peripheral blood	blood

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