Variant report

Variant	rs12548367
Chromosome Location	chr8:95929202-95929203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95921517..95926528-chr8:95928428..95934731,6	MCF-7	breast:
2	chr8:95908210..95910948-chr8:95928177..95931764,3	MCF-7	breast:
3	chr8:95905297..95908924-chr8:95926792..95929692,3	K562	blood:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10112447	0.82[EUR][1000 genomes]
rs1011795	0.82[EUR][1000 genomes]
rs1011796	0.82[EUR][1000 genomes]
rs10956928	0.89[ASN][1000 genomes]
rs10956929	0.91[ASN][1000 genomes]
rs10956930	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956931	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956932	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541035	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12545596	0.89[ASN][1000 genomes]
rs12548999	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282419	0.87[AMR][1000 genomes]
rs2013597	0.82[EUR][1000 genomes]
rs2123647	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340583	0.86[ASN][1000 genomes]
rs2515235	0.88[AFR][1000 genomes]
rs2924477	0.92[ASN][1000 genomes]
rs2924478	0.81[ASN][1000 genomes]
rs2945554	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945563	0.90[ASN][1000 genomes]
rs2956216	0.97[ASN][1000 genomes]
rs3019175	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019182	0.99[ASN][1000 genomes]
rs34293080	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4570121	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735329	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735330	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735331	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735332	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477653	0.99[ASN][1000 genomes]
rs535322	0.99[ASN][1000 genomes]
rs550418	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550564	0.99[ASN][1000 genomes]
rs551270	0.97[ASN][1000 genomes]
rs61537129	0.92[ASN][1000 genomes]
rs6471500	0.82[ASN][1000 genomes]
rs6471501	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683832	0.99[ASN][1000 genomes]
rs6983000	0.92[ASN][1000 genomes]
rs6987256	0.92[ASN][1000 genomes]
rs6987400	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001535	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015841	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017487	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820818	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643350	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643351	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643353	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
2	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:95909400-95941000	Weak transcription	Ovary	ovary
4	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
5	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
7	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
9	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
11	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
13	chr8:95913600-95930200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:95913600-95932600	Weak transcription	Fetal Brain Male	brain
15	chr8:95918000-95940200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:95918600-95933400	Weak transcription	Right Ventricle	heart
17	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
18	chr8:95918800-95931800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:95918800-95935200	Weak transcription	Primary B cells from cord blood	blood
20	chr8:95919000-95941200	Weak transcription	Left Ventricle	heart
21	chr8:95919200-95935200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:95919800-95931400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:95920200-95938400	Weak transcription	NHDF-Ad	bronchial
25	chr8:95920400-95938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:95921200-95936600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:95924000-95929600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:95926200-95939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:95926200-95946400	Weak transcription	Stomach Mucosa	stomach
30	chr8:95926400-95941200	Weak transcription	Pancreas	Pancrea
31	chr8:95927000-95940400	Weak transcription	Lung	lung
32	chr8:95928400-95936800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:95928600-95932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:95928600-95932600	Weak transcription	Fetal Thymus	thymus
35	chr8:95928600-95935000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:95928600-95935200	Weak transcription	Liver	Liver
37	chr8:95928600-95938600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:95928600-95939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:95928600-95939600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:95928600-95939600	Weak transcription	Dnd41	blood
41	chr8:95928600-95940200	Weak transcription	Fetal Kidney	kidney
42	chr8:95928600-95940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:95928600-95941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:95928600-95941200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:95928800-95937200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:95928800-95939800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:95929200-95930400	Weak transcription	Gastric	stomach

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