Variant report

Variant	rs28454923
Chromosome Location	chr8:96152873-96152874
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96148895..96150652-chr8:96152212..96154149,3	K562	blood:
2	chr8:96151785..96153894-chr8:96159898..96162073,2	K562	blood:
3	chr8:96079846..96082376-chr8:96152010..96153617,2	MCF-7	breast:
4	chr8:96113444..96115099-chr8:96152437..96154203,2	MCF-7	breast:
5	chr8:96123364..96125766-chr8:96152623..96155722,3	MCF-7	breast:
6	chr5:178985765..178987642-chr8:96152664..96155145,2	MCF-7	breast:
7	chr8:96150317..96152962-chr8:96247980..96250492,2	K562	blood:
8	chr8:96083657..96085811-chr8:96151412..96153447,2	MCF-7	breast:
9	chr8:96152437..96154177-chr8:96159404..96162310,2	MCF-7	breast:
10	chr8:96097174..96099699-chr8:96151326..96153504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176783	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10087335	1.00[AMR][1000 genomes]
rs10089832	1.00[AMR][1000 genomes]
rs10093849	1.00[AMR][1000 genomes]
rs10100231	1.00[AMR][1000 genomes]
rs10104137	1.00[AFR][1000 genomes]
rs10107484	1.00[AMR][1000 genomes]
rs10216558	1.00[AMR][1000 genomes]
rs10216590	1.00[AMR][1000 genomes]
rs12334340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438816	1.00[AMR][1000 genomes]
rs28370425	1.00[AMR][1000 genomes]
rs28421068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431001	1.00[AMR][1000 genomes]
rs28504672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569283	1.00[AMR][1000 genomes]
rs28645781	1.00[AMR][1000 genomes]
rs28713284	1.00[AMR][1000 genomes]
rs28736358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278574	1.00[AMR][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	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	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96147200-96172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:96147800-96153800	Weak transcription	Esophagus	oesophagus
3	chr8:96147800-96154800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr8:96147800-96172200	Weak transcription	HSMM	muscle
5	chr8:96148400-96162000	Weak transcription	Lung	lung
6	chr8:96148400-96163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
8	chr8:96148600-96161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:96149200-96159600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:96150000-96154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:96150200-96153800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:96150200-96154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:96150200-96155200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
17	chr8:96150400-96153000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:96150400-96153200	Weak transcription	Colonic Mucosa	Colon
19	chr8:96150400-96153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:96150400-96153800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:96150400-96154200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:96150400-96154600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:96150400-96154600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:96150400-96155600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:96150400-96155800	Weak transcription	HMEC	breast
26	chr8:96150400-96161600	Weak transcription	Fetal Heart	heart
27	chr8:96150400-96162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:96150400-96162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:96150400-96166600	Weak transcription	Ovary	ovary
30	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
31	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
33	chr8:96150600-96153000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:96151200-96153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:96151200-96153200	Enhancers	HepG2	liver
36	chr8:96151200-96153400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:96151200-96156600	Flanking Active TSS	GM12878-XiMat	blood
38	chr8:96151200-96157400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:96151400-96153000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:96151400-96153000	Enhancers	Left Ventricle	heart
41	chr8:96151400-96153000	Enhancers	Pancreas	Pancrea
42	chr8:96151400-96153000	Enhancers	Right Atrium	heart
43	chr8:96151400-96153000	Enhancers	Thymus	Thymus
44	chr8:96151400-96153600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:96151600-96153000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:96151600-96153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr8:96151600-96154000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:96151800-96157200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:96152000-96153000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:96152000-96153000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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