Variant report

Variant	rs28431240
Chromosome Location	chr8:96161637-96161638
allele	C/T
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	chr8:96161483..96163205-chr8:96165034..96167359,2	K562	blood:
2	chr8:96159139..96162983-chr8:96165859..96168467,3	K562	blood:
3	chr8:96145054..96149642-chr8:96159048..96164326,7	MCF-7	breast:
4	chr8:96152437..96154177-chr8:96159404..96162310,2	MCF-7	breast:
5	chr8:96155692..96158547-chr8:96159718..96162873,5	K562	blood:
6	chr8:96144071..96148064-chr8:96161373..96163078,3	MCF-7	breast:
7	chr8:96151785..96153894-chr8:96159898..96162073,2	K562	blood:
8	chr8:96156688..96158970-chr8:96160292..96162043,2	MCF-7	breast:
9	chr8:96160643..96163475-chr8:96167715..96170557,2	K562	blood:
10	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]
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]
rs28704607	1.00[AFR][1000 genomes];1.00[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:76 , 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	chr8:96148400-96162000	Weak transcription	Lung	lung
4	chr8:96148400-96163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
6	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
9	chr8:96150400-96162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:96150400-96162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:96150400-96166600	Weak transcription	Ovary	ovary
12	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
13	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
15	chr8:96152600-96162000	Weak transcription	Aorta	Aorta
16	chr8:96152600-96162000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:96152600-96162000	Weak transcription	Hela-S3	cervix
18	chr8:96152600-96163000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:96152800-96161800	Weak transcription	Brain Anterior Caudate	brain
20	chr8:96152800-96166400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:96153000-96162800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:96153000-96165400	Weak transcription	Thymus	Thymus
23	chr8:96153000-96166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:96153000-96166600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:96153400-96163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:96153600-96163000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:96154000-96166400	Weak transcription	Fetal Thymus	thymus
28	chr8:96154800-96162000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:96154800-96162000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:96154800-96162200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:96154800-96166400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:96154800-96166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:96154800-96166600	Weak transcription	Gastric	stomach
34	chr8:96155200-96166600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:96155600-96166400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:96156000-96162000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:96156200-96162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:96156200-96162800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:96156600-96162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:96156600-96163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:96157000-96162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:96157400-96163000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr8:96157600-96162000	Weak transcription	Primary T cells from cord blood	blood
44	chr8:96157800-96166400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:96158000-96166600	Weak transcription	Pancreas	Pancrea
46	chr8:96158200-96161800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:96158200-96162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:96158200-96162000	Weak transcription	K562	blood
49	chr8:96158200-96166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:96158200-96170800	Weak transcription	Primary hematopoietic stem cells	blood

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