Variant report

Variant	rs555898047
Chromosome Location	chr8:125384550-125384551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
2	chr15:59041844..59042500-chr8:125383995..125384667,2	Hela-S3	cervix:
3	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
4	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
5	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:
6	chr8:125259085..125259702-chr8:125384481..125385306,2	MCF-7	breast:
7	chr8:124792618..124794440-chr8:125383847..125385509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181171	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000253227	Chromatin interaction
ENSG00000214803	Chromatin interaction
ENSG00000250727	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000176853	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	chr8:125382600-125385400	Active TSS	HSMMtube	muscle
15	chr8:125382600-125385800	Active TSS	Brain Hippocampus Middle	brain
16	chr8:125382600-125385800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:125382600-125385800	Active TSS	Stomach Smooth Muscle	stomach
18	chr8:125382800-125385000	Active TSS	Fetal Stomach	stomach
19	chr8:125382800-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:125382800-125385400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:125382800-125385400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:125382800-125385400	Active TSS	HSMM	muscle
23	chr8:125382800-125385600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:125382800-125385600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:125382800-125385600	Active TSS	Left Ventricle	heart
26	chr8:125382800-125385600	Active TSS	Ovary	ovary
27	chr8:125382800-125385600	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:125382800-125385800	Active TSS	Brain Anterior Caudate	brain
29	chr8:125382800-125385800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:125382800-125385800	Active TSS	Fetal Kidney	kidney
31	chr8:125383000-125385400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr8:125383000-125385400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:125383000-125385400	Active TSS	HMEC	breast
34	chr8:125383000-125385600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:125383000-125385600	Active TSS	Brain Cingulate Gyrus	brain
36	chr8:125383000-125385600	Active TSS	Thymus	Thymus
37	chr8:125383000-125385600	Active TSS	NHDF-Ad	bronchial
38	chr8:125383000-125385800	Active TSS	NH-A	brain
39	chr8:125383000-125385800	Active TSS	NHLF	lung
40	chr8:125383200-125384600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:125383200-125385400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:125383200-125385400	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:125383200-125385400	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr8:125383200-125385600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr8:125383200-125385800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:125383200-125385800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr8:125383400-125384600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:125383400-125385200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:125383400-125385400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:125383400-125385400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links