Variant report

Variant	rs1033491
Chromosome Location	chr1:210580381-210580382
allele	A/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	chr1:210544698..210555948-chr1:210566953..210584306,65	MCF-7	breast:
2	chr1:210545333..210549114-chr1:210576030..210582834,11	K562	blood:
3	chr1:210580289..210581488-chr1:211307440..211308125,4	K562	blood:
4	chr1:210580317..210581126-chr1:211307369..211308490,3	MCF-7	breast:
5	chr1:210573314..210577563-chr1:210578533..210582759,4	K562	blood:
6	chr1:210572425..210575594-chr1:210579116..210581300,3	K562	blood:
7	chr1:210580352..210581221-chr1:211308252..211309278,4	MCF-7	breast:
8	chr1:210546219..210548484-chr1:210580147..210582038,2	K562	blood:
9	chr1:210544032..210549009-chr1:210579509..210584636,8	MCF-7	breast:
10	chr1:210580344..210581229-chr1:211307198..211308039,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143473	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1033490	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs717659	0.88[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1033491	ELK4	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:210559000-210584400	Weak transcription	Fetal Stomach	stomach
4	chr1:210566800-210586200	Weak transcription	Lung	lung
5	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
6	chr1:210570200-210594000	Weak transcription	Fetal Lung	lung
7	chr1:210571200-210586200	Weak transcription	Colonic Mucosa	Colon
8	chr1:210571200-210592400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:210571400-210591400	Weak transcription	Ovary	ovary
10	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:210573600-210592400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:210573800-210592200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:210573800-210594400	Weak transcription	Spleen	Spleen
14	chr1:210574000-210586600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:210574200-210581000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:210574400-210580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:210574400-210587400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:210574400-210592200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210574400-210594400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:210574400-210595200	Weak transcription	Right Ventricle	heart
21	chr1:210575800-210584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:210577400-210591600	Weak transcription	Thymus	Thymus
23	chr1:210578200-210581000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:210578400-210580800	Enhancers	HMEC	breast
25	chr1:210578400-210581000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:210578400-210581000	Enhancers	NHEK	skin
27	chr1:210578800-210581400	Enhancers	HSMMtube	muscle
28	chr1:210578800-210584400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:210579000-210580400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:210579400-210581200	Enhancers	HSMM	muscle
31	chr1:210580000-210581200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:210580000-210581200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:210580200-210581000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:210580200-210581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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