Variant report

Variant	rs58419720
Chromosome Location	chr8:96152207-96152208
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
2	chr8:96151785..96153894-chr8:96159898..96162073,2	K562	blood:
3	chr8:96079846..96082376-chr8:96152010..96153617,2	MCF-7	breast:
4	chr8:96149528..96152300-chr8:96192170..96194138,2	MCF-7	breast:
5	chr8:96150317..96152962-chr8:96247980..96250492,2	K562	blood:
6	chr8:96083657..96085811-chr8:96151412..96153447,2	MCF-7	breast:
7	chr8:95910082..95911889-chr8:96150413..96152348,2	K562	blood:
8	chr8:96148553..96152425-chr8:96162807..96166605,4	MCF-7	breast:
9	chr8:96097174..96099699-chr8:96151326..96153504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254248	Chromatin interaction
ENSG00000245080	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088488	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10092259	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10099012	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10101612	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10109640	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10956939	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11985227	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11987616	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11989019	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994118	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12334474	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12335131	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1561716	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28417924	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28431240	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28470215	0.85[EUR][1000 genomes]
rs28512193	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28704607	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58536083	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60144755	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7827540	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7842028	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7842334	0.91[AFR][1000 genomes];0.97[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	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:90 , 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	chr8:96150000-96152400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:96150000-96154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:96150200-96153800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:96150200-96154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:96150200-96155200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
18	chr8:96150400-96152400	Weak transcription	Brain Angular Gyrus	brain
19	chr8:96150400-96152400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:96150400-96152400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:96150400-96152400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:96150400-96152400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:96150400-96152400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:96150400-96152600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:96150400-96152600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:96150400-96152600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:96150400-96152800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:96150400-96153000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:96150400-96153200	Weak transcription	Colonic Mucosa	Colon
30	chr8:96150400-96153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:96150400-96153800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:96150400-96154200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:96150400-96154600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:96150400-96154600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:96150400-96155600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:96150400-96155800	Weak transcription	HMEC	breast
37	chr8:96150400-96161600	Weak transcription	Fetal Heart	heart
38	chr8:96150400-96162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:96150400-96162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:96150400-96166600	Weak transcription	Ovary	ovary
41	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
42	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
44	chr8:96150600-96153000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:96151000-96152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:96151200-96153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:96151200-96153200	Enhancers	HepG2	liver
48	chr8:96151200-96153400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:96151200-96156600	Flanking Active TSS	GM12878-XiMat	blood
50	chr8:96151200-96157400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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