Variant report

Variant	rs11683124
Chromosome Location	chr2:11607342-11607343
allele	A/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	RFX5	chr2:11605223-11608297	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr2:11607322-11607612	GM12878	blood:	n/a	n/a
3	JUN	chr2:11605303-11607477	K562	blood:	n/a	chr2:11606362-11606376 chr2:11605517-11605531
4	FOXA1	chr2:11606892-11607415	HepG2	liver:	n/a	n/a
5	MXI1	chr2:11605176-11607648	SK-N-SH	brain:	n/a	n/a
6	HCFC1	chr2:11605406-11607416	Hela-S3	cervix:	n/a	n/a
7	RUNX3	chr2:11607273-11607604	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:11607219-11607640	GM12878	blood:	n/a	n/a
9	FOXA2	chr2:11606960-11607501	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
2	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:

Variant related genes	Relation type
E2F6	TF binding region
ENSG00000230790	Chromatin interaction
ENSG00000162976	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11674380	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13398666	0.84[EUR][1000 genomes]
rs13414905	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4436932	0.88[EUR][1000 genomes]
rs62118947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6710385	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11605400-11607400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:11605800-11607400	Active TSS	Duodenum Mucosa	Duodenum
3	chr2:11606600-11607400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:11606600-11607400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr2:11606600-11607400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr2:11606800-11607400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:11606800-11607400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:11606800-11607400	Flanking Active TSS	Dnd41	blood
9	chr2:11606800-11607400	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:11606800-11607400	Flanking Active TSS	HUVEC	blood vessel
11	chr2:11606800-11607400	Flanking Active TSS	K562	blood
12	chr2:11607000-11607400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:11607000-11607400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:11607000-11607400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:11607000-11607400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:11607000-11607400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:11607000-11607400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:11607000-11607400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:11607000-11607400	Flanking Active TSS	A549	lung
20	chr2:11607000-11607400	Flanking Active TSS	HepG2	liver
21	chr2:11607000-11607600	Enhancers	Primary T cells from cord blood	blood
22	chr2:11607000-11607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:11607000-11607600	Enhancers	Left Ventricle	heart
24	chr2:11607000-11607600	Flanking Active TSS	Hela-S3	cervix
25	chr2:11607000-11621200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11607200-11607400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:11607200-11607400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:11607200-11607400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:11607200-11607400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:11607200-11607400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:11607200-11607400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:11607200-11607400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:11607200-11607400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11607200-11607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:11607200-11607400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:11607200-11607400	Enhancers	Adipose Nuclei	Adipose
37	chr2:11607200-11607400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:11607200-11607400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:11607200-11607600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:11607200-11608400	Enhancers	Psoas Muscle	Psoas
41	chr2:11607200-11611600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:11607200-11622400	Weak transcription	Spleen	Spleen

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