Variant report

Variant	rs8011911
Chromosome Location	chr14:69813963-69813964
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	chr14:69813940-69814090	WI-38	lung:	n/a	n/a
2	CTCF	chr14:69813114-69813969	A549	lung:	n/a	chr14:69813610-69813623 chr14:69813614-69813623 chr14:69813608-69813626
3	CTCF	chr14:69813960-69814110	HCM	heart:	n/a	n/a
4	CTCF	chr14:69813840-69813990	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr14:69813063-69813985	SK-N-SH	brain:	n/a	chr14:69813610-69813623 chr14:69813614-69813623 chr14:69813608-69813626
6	ELF1	chr14:69813430-69814350	GM12878	blood:	n/a	n/a
7	CTCF	chr14:69813308-69813990	MCF-7	breast:	n/a	chr14:69813610-69813623 chr14:69813614-69813623 chr14:69813608-69813626

No.	Distal block	Cell Line	Cell type
1	chr14:69808591..69811253-chr14:69813136..69815763,3	MCF-7	breast:
2	chr14:69813462..69817985-chr14:69818569..69825719,9	MCF-7	breast:
3	chr14:69781606..69784523-chr14:69813636..69815679,2	MCF-7	breast:
4	chr14:69765777..69766916-chr14:69812899..69814107,5	MCF-7	breast:
5	chr14:69754499..69755460-chr14:69813579..69814482,2	MCF-7	breast:
6	chr14:69811705..69814388-chr14:69822919..69825901,2	K562	blood:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1275721	0.83[AMR][1000 genomes]
rs1378288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs59840366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73275004	0.83[AMR][1000 genomes]
rs73275020	0.83[AMR][1000 genomes]
rs73293362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293367	1.00[EUR][1000 genomes]
rs73293372	0.83[AMR][1000 genomes]
rs73293376	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[EUR][1000 genomes]
rs74061850	1.00[EUR][1000 genomes]
rs74061851	1.00[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69791000-69817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
3	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:69800800-69815200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:69803400-69820800	Weak transcription	Esophagus	oesophagus
8	chr14:69806200-69818400	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:69806600-69814600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:69807000-69821000	Weak transcription	Fetal Intestine Large	intestine
11	chr14:69808600-69818600	Weak transcription	Fetal Brain Male	brain
12	chr14:69808600-69821600	Weak transcription	Brain Anterior Caudate	brain
13	chr14:69808800-69815200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
15	chr14:69810000-69814200	Weak transcription	Right Ventricle	heart
16	chr14:69810200-69818000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:69810200-69821600	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:69810200-69822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:69810400-69814000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:69810600-69817200	Weak transcription	Left Ventricle	heart
21	chr14:69812200-69821600	Weak transcription	Aorta	Aorta
22	chr14:69813000-69814000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:69813000-69814000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:69813200-69814000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:69813200-69814000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:69813400-69814200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:69813400-69816000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:69813400-69821000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:69813600-69814200	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr14:69813600-69816000	Strong transcription	Fetal Intestine Small	intestine
31	chr14:69813600-69817000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:69813800-69814000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:69813800-69816000	Strong transcription	Fetal Brain Female	brain
34	chr14:69813800-69817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:69813800-69819600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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