Variant report

Variant	rs985548
Chromosome Location	chr11:108466394-108466395
allele	A/C
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	CEBPB	chr11:108466382-108466637	HepG2	liver:	n/a	chr11:108466558-108466569 chr11:108466557-108466570

No.	Distal block	Cell Line	Cell type
1	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
2	chr11:108366826..108370827-chr11:108463038..108466989,6	MCF-7	breast:
3	chr11:108463113..108465522-chr11:108466152..108467835,2	MCF-7	breast:
4	chr11:108464637..108466466-chr11:108472735..108474292,2	MCF-7	breast:
5	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:

Variant related genes	Relation type
EXPH5	TF binding region
ENSG00000178202	Chromatin interaction
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1471617	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893067	0.83[ASN][1000 genomes]
rs1893068	0.84[ASN][1000 genomes]
rs2624129	0.82[ASN][1000 genomes]
rs2624148	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2640739	0.83[ASN][1000 genomes]
rs2640740	0.85[ASN][1000 genomes]
rs2640751	0.82[ASN][1000 genomes]
rs2640759	0.82[ASN][1000 genomes]
rs2846421	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2846422	0.84[ASN][1000 genomes]
rs4754330	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108464400-108468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:108464800-108472400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:108465000-108466400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:108465000-108466400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:108465000-108466400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:108465000-108466600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:108465000-108466600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:108465000-108466600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:108465000-108467800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:108465000-108468200	Weak transcription	NHEK	skin
11	chr11:108465000-108468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:108465000-108468600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:108465000-108468600	Weak transcription	HMEC	breast
14	chr11:108465000-108468600	Weak transcription	HSMM	muscle
15	chr11:108465000-108468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:108465200-108466400	Enhancers	K562	blood
17	chr11:108465600-108466400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:108465600-108466400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:108465800-108466400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:108465800-108466400	Enhancers	HSMMtube	muscle
21	chr11:108466000-108466400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr11:108466000-108466400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:108466000-108466600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:108466000-108470000	Enhancers	Placenta	Placenta
25	chr11:108466200-108466400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:108466200-108466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:108466200-108474200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links