Variant report

Variant	rs9332258
Chromosome Location	chr13:48812868-48812869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48811286..48815057-chr13:48876543..48879640,3	MCF-7	breast:
2	chr13:48803757..48809033-chr13:48809443..48816513,10	MCF-7	breast:
3	chr13:48811595..48813278-chr13:48821384..48823483,3	K562	blood:
4	chr13:48812679..48815522-chr13:48817152..48819257,2	K562	blood:

Variant related genes	Relation type
ENSG00000139687	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000231473	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs4151420	0.83[EUR][1000 genomes]
rs4151421	0.83[EUR][1000 genomes]
rs4151424	0.83[EUR][1000 genomes]
rs4151425	0.83[EUR][1000 genomes]
rs4151426	0.83[EUR][1000 genomes]
rs4151430	0.83[EUR][1000 genomes]
rs4151433	0.83[EUR][1000 genomes]
rs4151436	0.83[EUR][1000 genomes]
rs4151440	0.83[EUR][1000 genomes]
rs4151445	0.83[EUR][1000 genomes]
rs4151463	0.83[EUR][1000 genomes]
rs4151469	0.83[EUR][1000 genomes]
rs4151475	0.83[EUR][1000 genomes]
rs4151480	0.83[EUR][1000 genomes]
rs4151498	0.83[EUR][1000 genomes]
rs4151505	0.83[EUR][1000 genomes]
rs4151529	0.83[EUR][1000 genomes]
rs4151536	0.83[EUR][1000 genomes]
rs4151555	0.83[EUR][1000 genomes]
rs4151560	0.83[EUR][1000 genomes]
rs4151564	0.83[EUR][1000 genomes]
rs4151567	0.83[EUR][1000 genomes]
rs4151578	0.83[EUR][1000 genomes]
rs9332253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48815200	Weak transcription	Esophagus	oesophagus
2	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:48810000-48813400	Weak transcription	Lung	lung
8	chr13:48810000-48813400	Weak transcription	Pancreas	Pancrea
9	chr13:48810000-48813600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:48810200-48813400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:48810200-48814200	Enhancers	HepG2	liver
12	chr13:48810200-48816400	Weak transcription	Stomach Mucosa	stomach
13	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
15	chr13:48811000-48813200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:48811200-48819200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:48811400-48813400	Weak transcription	Fetal Stomach	stomach
19	chr13:48811400-48813600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:48811400-48828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:48811600-48813000	Weak transcription	HSMM	muscle
22	chr13:48811600-48813200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:48811600-48813200	Weak transcription	Fetal Thymus	thymus
24	chr13:48811600-48813200	Weak transcription	Small Intestine	intestine
25	chr13:48811600-48813400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:48811600-48813400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:48811600-48813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:48811600-48813400	Weak transcription	Fetal Intestine Large	intestine
29	chr13:48811600-48813400	Weak transcription	Fetal Intestine Small	intestine
30	chr13:48811600-48813400	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:48811600-48813400	Weak transcription	Placenta	Placenta
32	chr13:48811600-48813400	Weak transcription	Left Ventricle	heart
33	chr13:48811600-48813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:48811600-48813600	Genic enhancers	Dnd41	blood
35	chr13:48811600-48815200	Weak transcription	Right Ventricle	heart
36	chr13:48811600-48819800	Weak transcription	Spleen	Spleen
37	chr13:48811600-48825800	Weak transcription	Gastric	stomach
38	chr13:48811600-48827600	Weak transcription	Thymus	Thymus
39	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
40	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
42	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr13:48811800-48813000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
44	chr13:48811800-48813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:48811800-48813200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr13:48811800-48813200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:48811800-48813400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:48811800-48813400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr13:48811800-48813400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr13:48811800-48813400	Weak transcription	Brain Inferior Temporal Lobe	brain

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