Variant report

Variant	rs28514338
Chromosome Location	chr8:96002421-96002422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95979244..95983291-chr8:95999970..96003553,4	MCF-7	breast:
2	chr8:95959267..95964036-chr8:96000948..96003390,4	MCF-7	breast:
3	chr8:95966010..95969504-chr8:96000231..96003334,3	MCF-7	breast:
4	chr8:96000999..96003258-chr8:96004630..96006876,2	MCF-7	breast:
5	chr8:95998963..96001168-chr8:96001657..96004016,2	MCF-7	breast:
6	chr8:96000024..96003170-chr8:96035715..96037391,3	MCF-7	breast:
7	chr8:95959850..95964856-chr8:96001883..96005786,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10087047	0.86[AFR][1000 genomes]
rs10090286	0.86[AFR][1000 genomes]
rs10090874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093849	1.00[AFR][1000 genomes]
rs10095946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334596	1.00[AMR][1000 genomes]
rs12335322	0.87[AFR][1000 genomes]
rs13439011	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13439012	0.86[AFR][1000 genomes]
rs28370425	1.00[AFR][1000 genomes]
rs28372440	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28394682	0.86[AFR][1000 genomes]
rs28521724	1.00[AMR][1000 genomes]
rs28581770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689859	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:95981000-96003000	Weak transcription	Fetal Lung	lung
4	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
5	chr8:95987000-96019600	Weak transcription	Lung	lung
6	chr8:95987200-96003000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:95988000-96004800	Weak transcription	HMEC	breast
9	chr8:95992800-96002800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:95992800-96003000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
13	chr8:95997600-96004200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:95997600-96009000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
16	chr8:95998800-96003000	Weak transcription	Fetal Thymus	thymus
17	chr8:95999000-96003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95999200-96003200	Enhancers	NHDF-Ad	bronchial
19	chr8:95999800-96002600	Weak transcription	Fetal Stomach	stomach
20	chr8:96000000-96008800	Weak transcription	Spleen	Spleen
21	chr8:96000200-96002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:96000200-96003000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:96000400-96002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:96000400-96003000	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:96000400-96003400	Weak transcription	Left Ventricle	heart
26	chr8:96000400-96005000	Weak transcription	Right Atrium	heart
27	chr8:96000400-96009200	Weak transcription	Brain Angular Gyrus	brain
28	chr8:96000600-96003000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:96000600-96003000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:96000600-96009200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:96000800-96002600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:96000800-96002800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:96000800-96002800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:96000800-96005800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:96000800-96009000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:96001000-96003000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:96001000-96003200	Weak transcription	Ovary	ovary
38	chr8:96001000-96003800	Enhancers	K562	blood
39	chr8:96001000-96009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:96001000-96012000	Weak transcription	Primary B cells from cord blood	blood
41	chr8:96001200-96002800	Weak transcription	Fetal Heart	heart
42	chr8:96001200-96009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:96001200-96013600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:96001200-96023400	Weak transcription	Liver	Liver
45	chr8:96001400-96003000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:96001800-96002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:96001800-96003600	Enhancers	Right Ventricle	heart
48	chr8:96002000-96002600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:96002000-96003000	Enhancers	Esophagus	oesophagus
50	chr8:96002000-96005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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