Variant report

Variant	rs528218470
Chromosome Location	chr8:125383954-125383955
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: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	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
2	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
3	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
4	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
5	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
6	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
7	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:
8	chr8:125283009..125285432-chr8:125382555..125384066,2	MCF-7	breast:
9	chr8:125383681..125384360-chr8:125437557..125438176,2	MCF-7	breast:
10	chr8:124792618..124794440-chr8:125383847..125385509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000250727	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000181171	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
2	chr8:125381600-125385600	Active TSS	Fetal Brain Female	brain
3	chr8:125382000-125385600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:125382000-125385600	Active TSS	Psoas Muscle	Psoas
5	chr8:125382200-125385200	Active TSS	Primary T cells fromperipheralblood	blood
6	chr8:125382200-125385400	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:125382200-125385400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:125382200-125385400	Active TSS	GM12878-XiMat	blood
9	chr8:125382200-125385600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:125382200-125385600	Active TSS	A549	lung
11	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:125382400-125385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:125382400-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:125382600-125384000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:125382600-125385400	Active TSS	HSMMtube	muscle
16	chr8:125382600-125385800	Active TSS	Brain Hippocampus Middle	brain
17	chr8:125382600-125385800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr8:125382600-125385800	Active TSS	Stomach Smooth Muscle	stomach
19	chr8:125382800-125385000	Active TSS	Fetal Stomach	stomach
20	chr8:125382800-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:125382800-125385400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:125382800-125385400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:125382800-125385400	Active TSS	HSMM	muscle
24	chr8:125382800-125385600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125382800-125385600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:125382800-125385600	Active TSS	Left Ventricle	heart
27	chr8:125382800-125385600	Active TSS	Ovary	ovary
28	chr8:125382800-125385600	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:125382800-125385800	Active TSS	Brain Anterior Caudate	brain
30	chr8:125382800-125385800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:125382800-125385800	Active TSS	Fetal Kidney	kidney
32	chr8:125383000-125385400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:125383000-125385400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:125383000-125385400	Active TSS	HMEC	breast
35	chr8:125383000-125385600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:125383000-125385600	Active TSS	Brain Cingulate Gyrus	brain
37	chr8:125383000-125385600	Active TSS	Thymus	Thymus
38	chr8:125383000-125385600	Active TSS	NHDF-Ad	bronchial
39	chr8:125383000-125385800	Active TSS	NH-A	brain
40	chr8:125383000-125385800	Active TSS	NHLF	lung
41	chr8:125383200-125384000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr8:125383200-125384000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:125383200-125384000	Flanking Bivalent TSS/Enh	Dnd41	blood
44	chr8:125383200-125384600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:125383200-125385400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:125383200-125385400	Active TSS	Fetal Muscle Trunk	muscle
47	chr8:125383200-125385400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:125383200-125385600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:125383200-125385800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:125383200-125385800	Active TSS	Pancreatic Islets	Pancreatic Islet

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