Variant report

Variant	rs58559329
Chromosome Location	chr12:48374932-48374933
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48373823..48376376-chr12:48383731..48387007,3	MCF-7	breast:
2	chr12:48246296..48248237-chr12:48373548..48375566,2	MCF-7	breast:
3	chr12:48370423..48373200-chr12:48373445..48376245,2	K562	blood:
4	chr12:48262428..48264401-chr12:48374730..48377595,2	K562	blood:
5	chr12:48372717..48377052-chr12:48391617..48394178,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41272773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317879	1.00[EUR][1000 genomes]
rs41317901	1.00[EUR][1000 genomes]
rs41317931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56932369	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv525456	chr12:48366449-48376969	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv558789	chr12:48368541-48376869	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:48363400-48375000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:48363400-48375000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:48363400-48383000	Weak transcription	Spleen	Spleen
6	chr12:48364400-48381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:48365200-48381600	Weak transcription	Right Atrium	heart
8	chr12:48365400-48381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:48366200-48381200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:48366200-48381400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48366200-48381600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:48366600-48375200	Weak transcription	Gastric	stomach
13	chr12:48372400-48378400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:48373000-48375000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:48373800-48376800	Enhancers	Fetal Intestine Large	intestine
16	chr12:48374000-48375400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr12:48374200-48377600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:48374400-48376400	Genic enhancers	Fetal Intestine Small	intestine
19	chr12:48374800-48375600	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:48374800-48375600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr12:48374800-48375800	Enhancers	Colonic Mucosa	Colon
22	chr12:48374800-48375800	Enhancers	Fetal Heart	heart
23	chr12:48374800-48375800	Enhancers	Fetal Lung	lung
24	chr12:48374800-48375800	Flanking Active TSS	HepG2	liver
25	chr12:48374800-48379000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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