Variant report

Variant	rs57675317
Chromosome Location	chr14:69822522-69822523
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69821172..69826934-chr14:69835934..69842143,9	MCF-7	breast:
2	chr14:69810681..69813205-chr14:69822055..69824419,2	K562	blood:
3	chr14:69822349..69827857-chr14:69829114..69832930,7	MCF-7	breast:
4	chr14:69618455..69620714-chr14:69822372..69824189,2	MCF-7	breast:
5	chr14:69822116..69824651-chr14:69862569..69864900,2	MCF-7	breast:
6	chr14:69713333..69716497-chr14:69822464..69825610,4	MCF-7	breast:
7	chr14:69821722..69824231-chr14:69923203..69925103,2	MCF-7	breast:
8	chr14:69800242..69802795-chr14:69820027..69823716,5	MCF-7	breast:
9	chr14:69821220..69824181-chr14:69864124..69866738,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000029364	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000100632	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10130642	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10131686	0.82[AMR][1000 genomes]
rs10137655	0.82[AMR][1000 genomes]
rs10137668	0.82[AMR][1000 genomes]
rs10142738	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10148090	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10150434	0.82[AMR][1000 genomes]
rs11620664	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11622130	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624753	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624756	0.86[EUR][1000 genomes]
rs11626070	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11844803	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11847666	0.82[AFR][1000 genomes]
rs12147167	0.82[AMR][1000 genomes]
rs12147983	0.82[AMR][1000 genomes]
rs12147999	0.82[AMR][1000 genomes]
rs12185028	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12385913	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17106979	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17764155	0.82[AFR][1000 genomes]
rs1952255	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2015547	0.83[AFR][1000 genomes]
rs2061088	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2168241	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28616724	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35286134	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36088452	0.85[AFR][1000 genomes]
rs45536240	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55751520	0.82[AMR][1000 genomes]
rs57148905	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57941356	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59116152	0.82[AMR][1000 genomes]
rs59181716	0.82[AMR][1000 genomes]
rs60238702	0.82[AMR][1000 genomes]
rs61436917	0.82[AMR][1000 genomes]
rs61564515	0.82[AMR][1000 genomes]
rs7143230	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152301	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7155178	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722198	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722199	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723815	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723830	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723840	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723847	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72723850	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72723857	0.82[AMR][1000 genomes]
rs8016618	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9630395	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:69809800-69822800	Weak transcription	Right Atrium	heart
3	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:69817600-69822600	Weak transcription	Fetal Stomach	stomach
5	chr14:69817600-69823000	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:69818400-69827400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:69818600-69842800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:69820400-69823000	Enhancers	Primary B cells from cord blood	blood
9	chr14:69820600-69822800	Enhancers	Fetal Thymus	thymus
10	chr14:69820600-69823000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:69820800-69823200	Enhancers	Fetal Muscle Leg	muscle
12	chr14:69820800-69823200	Weak transcription	Gastric	stomach
13	chr14:69821000-69823200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:69821000-69838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:69821000-69839600	Weak transcription	Fetal Brain Female	brain
16	chr14:69821200-69822600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:69821200-69822600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:69821200-69822800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:69821200-69823000	Enhancers	Fetal Muscle Trunk	muscle
20	chr14:69821200-69823000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:69821200-69823200	Enhancers	NHDF-Ad	bronchial
22	chr14:69821200-69825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:69821400-69823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:69821400-69823200	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:69821400-69824200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:69821600-69822800	Enhancers	Aorta	Aorta
27	chr14:69821600-69823000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:69821600-69823200	Enhancers	Colon Smooth Muscle	Colon
29	chr14:69821600-69823600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:69821800-69823000	Enhancers	Brain Hippocampus Middle	brain
31	chr14:69821800-69823200	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:69821800-69824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:69821800-69827200	Weak transcription	Fetal Intestine Small	intestine
34	chr14:69821800-69852400	Weak transcription	Spleen	Spleen
35	chr14:69822000-69822600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:69822000-69822800	Enhancers	HepG2	liver
37	chr14:69822000-69823200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:69822000-69829600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:69822200-69823000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:69822200-69823000	Enhancers	Right Ventricle	heart
41	chr14:69822200-69823200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:69822200-69823200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:69822200-69823200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:69822200-69823200	Enhancers	HSMMtube	muscle
45	chr14:69822200-69823200	Enhancers	Osteobl	bone
46	chr14:69822200-69823800	Weak transcription	Esophagus	oesophagus
47	chr14:69822200-69824000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:69822400-69822600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:69822400-69822800	Weak transcription	Brain Anterior Caudate	brain
50	chr14:69822400-69823000	Enhancers	Cortex derived primary cultured neurospheres	brain

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