Variant report

Variant	rs4808915
Chromosome Location	chr19:19178405-19178406
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19174780..19176762-chr19:19177154..19178760,2	MCF-7	breast:
2	chr19:19176990..19179338-chr19:19181628..19184971,3	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.95[EUR][1000 genomes]
rs10221450	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10221529	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11549380	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498174	0.97[EUR][1000 genomes]
rs4808171	0.97[EUR][1000 genomes]
rs4808178	0.97[EUR][1000 genomes]
rs4808180	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808896	0.97[EUR][1000 genomes]
rs4808897	0.97[EUR][1000 genomes]
rs4808899	0.97[EUR][1000 genomes]
rs4808909	0.92[EUR][1000 genomes]
rs4808910	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808921	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808922	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678828	0.97[EUR][1000 genomes]
rs56141206	0.97[EUR][1000 genomes]
rs56144126	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56159042	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56227420	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60489867	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60696741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993458	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004898	0.97[EUR][1000 genomes]
rs73004899	0.97[EUR][1000 genomes]
rs73006907	0.97[EUR][1000 genomes]
rs73006928	0.93[EUR][1000 genomes]
rs73008923	0.97[EUR][1000 genomes]
rs73008928	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008930	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008934	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008939	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008945	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008949	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008960	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010908	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176000-19184600	Weak transcription	Spleen	Spleen
3	chr19:19176200-19185800	Weak transcription	Ovary	ovary
4	chr19:19176200-19186000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:19176400-19178800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:19176400-19179400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr19:19176400-19179800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:19176400-19179800	Weak transcription	Brain Germinal Matrix	brain
9	chr19:19176400-19179800	Weak transcription	Placenta	Placenta
10	chr19:19176400-19180000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:19176400-19180000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:19176400-19180000	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:19176400-19180000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:19176400-19180000	Weak transcription	Left Ventricle	heart
15	chr19:19176400-19180000	Weak transcription	Lung	lung
16	chr19:19176400-19180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:19176400-19180600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:19176400-19181200	Weak transcription	Fetal Intestine Small	intestine
19	chr19:19176400-19182000	Weak transcription	Small Intestine	intestine
20	chr19:19176400-19183600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:19176400-19186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:19176400-19189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:19176400-19190400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:19176400-19190600	Weak transcription	Esophagus	oesophagus
25	chr19:19176400-19192600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:19176400-19192600	Weak transcription	Right Atrium	heart
27	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:19176400-19215800	Weak transcription	NHLF	lung
30	chr19:19176600-19178600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:19176600-19178800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr19:19176600-19178800	Enhancers	K562	blood
33	chr19:19176600-19179600	Weak transcription	Right Ventricle	heart
34	chr19:19176600-19179800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:19176600-19179800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:19176600-19179800	Weak transcription	Fetal Stomach	stomach
37	chr19:19176600-19179800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:19176600-19180000	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:19176600-19180000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr19:19176600-19180000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr19:19176600-19180000	Weak transcription	Fetal Lung	lung
42	chr19:19176600-19180000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr19:19176600-19181600	Weak transcription	Thymus	Thymus
44	chr19:19176600-19184800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:19176600-19185000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr19:19176600-19185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:19176600-19185000	Weak transcription	Fetal Brain Male	brain
48	chr19:19176600-19186800	Weak transcription	Dnd41	blood
49	chr19:19176600-19187200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:19176600-19187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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