Variant report

Variant	rs10892553
Chromosome Location	chr11:120110775-120110776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr11:120110765-120111040	GM12892	blood:	n/a	n/a
2	SIN3A	chr11:120110748-120111302	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:120110344-120111406	H1-hESC	embryonic stem cell:	n/a	chr11:120111189-120111201 chr11:120111184-120111203 chr11:120111185-120111199
4	MAX	chr11:120110484-120111004	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:120110594-120111111	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr11:120110711-120111014	H1-hESC	embryonic stem cell:	n/a	chr11:120110848-120110859
7	MAX	chr11:120110623-120111363	H1-hESC	embryonic stem cell:	n/a	chr11:120111290-120111300
8	CEBPB	chr11:120110647-120111038	ECC-1	luminal epithelium:	n/a	chr11:120110848-120110859
9	CTBP2	chr11:120110209-120111217	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
3	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
4	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2253006	0.94[ASN][1000 genomes]
rs2509623	0.94[ASN][1000 genomes]
rs2715890	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2845702	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120099800-120110800	Weak transcription	Ovary	ovary
3	chr11:120101600-120111000	Weak transcription	Liver	Liver
4	chr11:120110000-120111200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:120110400-120110800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:120110400-120111000	Enhancers	Esophagus	oesophagus
7	chr11:120110400-120111000	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr11:120110400-120111000	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr11:120110400-120111200	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr11:120110400-120111200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:120110400-120111600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:120110400-120111600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:120110400-120111600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:120110400-120111600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:120110400-120111600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr11:120110400-120112000	Enhancers	Pancreas	Pancrea
17	chr11:120110600-120110800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:120110600-120111000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr11:120110600-120111000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:120110600-120111000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:120110600-120111000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:120110600-120111000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:120110600-120111000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:120110600-120111000	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr11:120110600-120111200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:120110600-120111200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:120110600-120111400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:120110600-120111400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:120110600-120111400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:120110600-120111400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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