Variant report

Variant	rs8019376
Chromosome Location	chr14:56588489-56588490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:
2	chr14:56582271..56586215-chr14:56587946..56591679,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10483663	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483664	0.85[EUR][1000 genomes]
rs11158072	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1383395	0.85[EUR][1000 genomes]
rs17090926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs17090962	0.85[EUR][1000 genomes]
rs17090964	0.85[EUR][1000 genomes]
rs17093198	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57701314	0.83[EUR][1000 genomes]
rs6573080	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7143395	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7157348	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73287035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287042	0.85[EUR][1000 genomes]
rs8007410	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8013624	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014396	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017757	0.85[EUR][1000 genomes]
rs8018061	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019044	0.85[EUR][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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56586400-56588600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:56586400-56591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56586800-56590000	Flanking Active TSS	Dnd41	blood
4	chr14:56587400-56589200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:56587400-56590800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:56587400-56591000	Weak transcription	Gastric	stomach
7	chr14:56587400-56591200	Weak transcription	Lung	lung
8	chr14:56587400-56591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:56587400-56592800	Weak transcription	Esophagus	oesophagus
10	chr14:56587400-56596000	Weak transcription	Right Atrium	heart
11	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
12	chr14:56587600-56588600	Enhancers	Primary T cells from cord blood	blood
13	chr14:56587600-56589000	Enhancers	Primary B cells from cord blood	blood
14	chr14:56587600-56589000	Weak transcription	Adipose Nuclei	Adipose
15	chr14:56587600-56589000	Weak transcription	Pancreas	Pancrea
16	chr14:56587600-56589000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:56587600-56589200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:56587600-56589200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:56587600-56589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:56587600-56589600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:56587600-56589800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:56587600-56589800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:56587600-56589800	Enhancers	NHLF	lung
24	chr14:56587600-56590200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:56587600-56590400	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:56587600-56590400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:56587600-56590400	Weak transcription	Fetal Intestine Small	intestine
28	chr14:56587600-56590400	Weak transcription	Fetal Lung	lung
29	chr14:56587600-56591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:56587600-56591000	Weak transcription	NH-A	brain
31	chr14:56587600-56591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:56587600-56591200	Weak transcription	Aorta	Aorta
33	chr14:56587600-56591200	Enhancers	Brain Germinal Matrix	brain
34	chr14:56587600-56591600	Weak transcription	Spleen	Spleen
35	chr14:56587600-56591800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:56587600-56592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:56587600-56592000	Enhancers	Colon Smooth Muscle	Colon
38	chr14:56587600-56592000	Enhancers	NHDF-Ad	bronchial
39	chr14:56587600-56592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:56587600-56592400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:56587600-56592400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:56587600-56592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:56587600-56592600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:56587600-56593200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:56587600-56595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:56587600-56595800	Weak transcription	Left Ventricle	heart
47	chr14:56587600-56595800	Weak transcription	Right Ventricle	heart
48	chr14:56587600-56595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:56587600-56596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:56587600-56596200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links