Variant report

Variant	rs28731447
Chromosome Location	chr8:125859391-125859392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52481454..52483306-chr8:125857851..125859697,2	MCF-7	breast:
2	chr8:125826280..125829250-chr8:125858154..125859848,3	K562	blood:
3	chr8:125853231..125854920-chr8:125856486..125859426,2	MCF-7	breast:
4	chr8:125858857..125860537-chr8:125866722..125869065,2	K562	blood:
5	chr8:125826310..125829048-chr8:125858256..125860186,2	K562	blood:
6	chr8:125740480..125742026-chr8:125858931..125861971,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10111331	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956219	0.82[EUR][1000 genomes]
rs10956220	0.82[EUR][1000 genomes]
rs11774426	0.83[EUR][1000 genomes]
rs11990757	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994576	0.82[EUR][1000 genomes]
rs11994907	0.82[EUR][1000 genomes]
rs12542397	0.81[EUR][1000 genomes]
rs12547431	0.83[EUR][1000 genomes]
rs12549299	0.82[EUR][1000 genomes]
rs28446872	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28460087	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28597931	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4870928	0.81[EUR][1000 genomes]
rs4871558	0.82[EUR][1000 genomes]
rs4871560	0.82[EUR][1000 genomes]
rs6470288	0.81[EUR][1000 genomes]
rs6470289	0.83[EUR][1000 genomes]
rs6470290	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470294	0.82[EUR][1000 genomes]
rs6988410	0.82[EUR][1000 genomes]
rs6992468	0.83[EUR][1000 genomes]
rs7015626	0.81[EUR][1000 genomes]
rs7460031	0.83[EUR][1000 genomes]
rs7463566	0.83[EUR][1000 genomes]
rs7835994	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:125855400-125860000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:125855400-125860400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125855600-125860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:125855600-125860800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:125855600-125860800	Weak transcription	Brain Angular Gyrus	brain
7	chr8:125855600-125861000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125855600-125861000	Weak transcription	Stomach Mucosa	stomach
9	chr8:125855800-125859800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:125855800-125860000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:125855800-125860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:125855800-125860200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:125855800-125860400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:125855800-125860400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:125855800-125860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125855800-125860400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:125855800-125861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:125855800-125861200	Weak transcription	Psoas Muscle	Psoas
19	chr8:125858000-125859800	Enhancers	NHEK	skin
20	chr8:125858000-125860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:125858000-125860600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125858000-125861400	Enhancers	NHDF-Ad	bronchial
23	chr8:125858000-125861600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:125858000-125861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125858000-125862200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:125858000-125862200	Enhancers	HMEC	breast
27	chr8:125858200-125860800	Enhancers	Left Ventricle	heart
28	chr8:125858200-125861400	Enhancers	Ovary	ovary
29	chr8:125858200-125861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:125858400-125861600	Enhancers	Placenta	Placenta
31	chr8:125858600-125859400	Enhancers	K562	blood
32	chr8:125858600-125861000	Enhancers	Right Ventricle	heart
33	chr8:125858800-125859600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:125858800-125859800	Enhancers	HSMM	muscle
35	chr8:125858800-125860000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:125858800-125860000	Enhancers	HSMMtube	muscle
37	chr8:125858800-125861000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:125858800-125861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:125858800-125861200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:125858800-125861200	Enhancers	NHLF	lung
41	chr8:125859000-125859400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:125859000-125859800	Enhancers	HUVEC	blood vessel
43	chr8:125859000-125859800	Enhancers	Osteobl	bone
44	chr8:125859000-125860400	Enhancers	Spleen	Spleen
45	chr8:125859000-125861200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:125859000-125861400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:125859000-125861600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr8:125859200-125859400	Flanking Active TSS	Fetal Heart	heart
49	chr8:125859200-125859400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:125859200-125859600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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