Variant report

Variant	rs9578154
Chromosome Location	chr13:30595746-30595747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30595330..30595923-chr13:30682716..30683276,2	MCF-7	breast:
2	chr13:30593860..30596414-chr13:30619534..30622191,2	MCF-7	breast:
3	chr13:30594873..30597210-chr13:30677151..30678863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224511	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11147408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514669	0.89[ASN][1000 genomes]
rs7333375	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30592000-30599400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
3	chr13:30593000-30599000	Weak transcription	Brain Anterior Caudate	brain
4	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:30593400-30595800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:30594000-30596000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:30594000-30596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:30594200-30595800	Enhancers	HSMM	muscle
10	chr13:30594200-30596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:30594200-30596400	Enhancers	Osteobl	bone
12	chr13:30594200-30596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:30594200-30597200	Enhancers	NHDF-Ad	bronchial
14	chr13:30594400-30595800	Enhancers	NHEK	skin
15	chr13:30594400-30598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:30594400-30599000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:30594600-30596400	Weak transcription	Placenta	Placenta
18	chr13:30594600-30599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:30594800-30596000	Enhancers	HSMMtube	muscle
20	chr13:30594800-30597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:30595000-30595800	Enhancers	NHLF	lung
22	chr13:30595000-30596000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:30595000-30596200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:30595200-30596400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:30595400-30595800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:30595400-30596000	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:30595400-30596000	Enhancers	GM12878-XiMat	blood
29	chr13:30595400-30596400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:30595400-30599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:30595600-30595800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:30595600-30596400	Weak transcription	Spleen	Spleen
33	chr13:30595600-30599200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links