Variant report

Variant	rs57127480
Chromosome Location	chr14:65176107-65176108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65174479..65176413-chr14:65184169..65186446,2	K562	blood:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
4	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
5	chr14:65139588..65142521-chr14:65175762..65178559,2	MCF-7	breast:
6	chr14:65173952..65176818-chr14:65213044..65215895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10138525	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1695770	0.86[ASN][1000 genomes]
rs57421986	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59562812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61742295	0.95[ASN][1000 genomes]
rs7143124	0.96[EUR][1000 genomes]
rs7144915	0.82[AFR][1000 genomes]
rs7161278	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr14:65171800-65177200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr14:65172400-65176800	Enhancers	Small Intestine	intestine
4	chr14:65172800-65176400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65172800-65176400	Enhancers	Stomach Mucosa	stomach
6	chr14:65172800-65178000	Enhancers	Fetal Heart	heart
7	chr14:65173000-65176400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr14:65173000-65177000	Enhancers	Pancreas	Pancrea
9	chr14:65173000-65177000	Enhancers	Right Atrium	heart
10	chr14:65173000-65177600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:65173200-65176400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:65173200-65177000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:65173200-65178000	Enhancers	Spleen	Spleen
14	chr14:65173400-65178000	Enhancers	Adipose Nuclei	Adipose
15	chr14:65173600-65176200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:65173600-65176400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65173600-65176400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:65173800-65176400	Genic enhancers	Fetal Stomach	stomach
19	chr14:65173800-65176800	Enhancers	Esophagus	oesophagus
20	chr14:65173800-65178000	Enhancers	Ovary	ovary
21	chr14:65173800-65179000	Enhancers	Liver	Liver
22	chr14:65174000-65176400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:65174200-65176400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr14:65174400-65176200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:65174400-65176800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:65174400-65178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:65174600-65176200	Enhancers	Colonic Mucosa	Colon
28	chr14:65174600-65176800	Enhancers	Gastric	stomach
29	chr14:65174600-65177000	Weak transcription	Aorta	Aorta
30	chr14:65174800-65176200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr14:65174800-65176200	Enhancers	Lung	lung
32	chr14:65174800-65176200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr14:65174800-65176600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:65174800-65176800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr14:65174800-65177000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr14:65175000-65176600	Enhancers	Primary B cells from peripheral blood	blood
37	chr14:65175000-65176800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:65175000-65177000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:65175000-65178000	Enhancers	Left Ventricle	heart
40	chr14:65175200-65176200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:65175200-65176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:65175200-65176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:65175200-65176200	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr14:65175200-65176200	Enhancers	Fetal Muscle Leg	muscle
45	chr14:65175200-65176400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:65175200-65176400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:65175200-65176400	Enhancers	HepG2	liver
48	chr14:65175200-65178600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
50	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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