Variant report

Variant	rs28704607
Chromosome Location	chr8:96162099-96162100
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96161483..96163205-chr8:96165034..96167359,2	K562	blood:
2	chr8:96161676..96163530-chr8:96176721..96179454,3	MCF-7	breast:
3	chr8:96159139..96162983-chr8:96165859..96168467,3	K562	blood:
4	chr8:96145054..96149642-chr8:96159048..96164326,7	MCF-7	breast:
5	chr8:96152437..96154177-chr8:96159404..96162310,2	MCF-7	breast:
6	chr8:96155692..96158547-chr8:96159718..96162873,5	K562	blood:
7	chr8:96161791..96169135-chr8:96169356..96174766,9	MCF-7	breast:
8	chr8:96144071..96148064-chr8:96161373..96163078,3	MCF-7	breast:
9	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
10	chr8:96160643..96163475-chr8:96167715..96170557,2	K562	blood:
11	chr8:96155692..96157578-chr8:96160080..96162873,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10092259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099012	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10109640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989019	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11994118	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334474	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561716	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28417924	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28431240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28470215	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28512193	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58419720	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58536083	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60144755	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60355917	0.81[EUR][1000 genomes]
rs7827540	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7842028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7842334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	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

No data

Chromatin state (count:88 , 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	chr8:96147800-96172200	Weak transcription	HSMM	muscle
3	chr8:96148400-96163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
5	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
8	chr8:96150400-96166600	Weak transcription	Ovary	ovary
9	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
10	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
12	chr8:96152600-96163000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:96152800-96166400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:96153000-96162800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:96153000-96165400	Weak transcription	Thymus	Thymus
16	chr8:96153000-96166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:96153000-96166600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:96153400-96163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:96153600-96163000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:96154000-96166400	Weak transcription	Fetal Thymus	thymus
21	chr8:96154800-96162200	Weak transcription	Adipose Nuclei	Adipose
22	chr8:96154800-96166400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:96154800-96166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:96154800-96166600	Weak transcription	Gastric	stomach
25	chr8:96155200-96166600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:96155600-96166400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:96156200-96162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:96156200-96162800	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:96156600-96162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:96156600-96163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:96157400-96163000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:96157800-96166400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:96158000-96166600	Weak transcription	Pancreas	Pancrea
34	chr8:96158200-96166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:96158200-96170800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:96158400-96163200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:96158400-96166400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:96158400-96166600	Weak transcription	A549	lung
39	chr8:96158400-96166600	Weak transcription	HepG2	liver
40	chr8:96158600-96163000	Weak transcription	Stomach Mucosa	stomach
41	chr8:96159600-96163200	Genic enhancers	Primary B cells from cord blood	blood
42	chr8:96159600-96165800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:96159800-96164600	Enhancers	NHEK	skin
44	chr8:96160600-96163800	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr8:96160800-96165200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:96160800-96165600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:96161200-96165000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:96161400-96162400	Enhancers	Brain Substantia Nigra	brain
49	chr8:96161600-96163400	Enhancers	Brain Hippocampus Middle	brain
50	chr8:96161600-96163600	Enhancers	Fetal Heart	heart

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