Variant report

Variant	rs4943965
Chromosome Location	chr11:86669278-86669279
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	FOXA1	chr11:86669228-86669711	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:86669116-86669792	HepG2	liver:	n/a	n/a
3	FOXA2	chr11:86669272-86669677	HepG2	liver:	n/a	n/a
4	FOXA2	chr11:86669182-86669860	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:86669217-86669659	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:86669173-86669665	HepG2	liver:	n/a	n/a
7	HDAC2	chr11:86669204-86669658	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86665281..86666922-chr11:86668579..86671414,2	MCF-7	breast:
3	chr11:86668356..86670880-chr11:86681150..86683418,2	MCF-7	breast:

Variant related genes	Relation type
FZD4	TF binding region
ENSG00000174804	Chromatin interaction
ENSG00000166575	Chromatin interaction
ENSG00000246523	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12099360	1.00[CEU][hapmap]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs4944642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944649	1.00[AMR][1000 genomes]
rs57561938	0.81[AMR][1000 genomes]
rs61735303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86667600-86669800	Enhancers	Brain Germinal Matrix	brain
2	chr11:86667600-86670200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:86667800-86669600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:86667800-86669600	Enhancers	Fetal Muscle Leg	muscle
5	chr11:86667800-86670000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:86667800-86670400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:86667800-86670600	Enhancers	Fetal Brain Male	brain
8	chr11:86667800-86678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:86668000-86669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:86668000-86669600	Enhancers	Psoas Muscle	Psoas
11	chr11:86668000-86669800	Enhancers	Fetal Brain Female	brain
12	chr11:86668000-86669800	Enhancers	Left Ventricle	heart
13	chr11:86668000-86669800	Enhancers	Right Atrium	heart
14	chr11:86668000-86684400	Weak transcription	Aorta	Aorta
15	chr11:86668200-86669600	Enhancers	Adipose Nuclei	Adipose
16	chr11:86668200-86669600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:86668200-86669600	Weak transcription	Fetal Intestine Small	intestine
18	chr11:86668200-86669600	Enhancers	Fetal Kidney	kidney
19	chr11:86668200-86669600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:86668200-86670200	Enhancers	HepG2	liver
21	chr11:86668400-86669400	Weak transcription	Spleen	Spleen
22	chr11:86668400-86669600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:86668600-86670200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:86668600-86670800	Enhancers	Fetal Heart	heart
25	chr11:86668800-86669800	Enhancers	Lung	lung
26	chr11:86668800-86670000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:86669000-86670000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:86669200-86669400	Enhancers	Brain Angular Gyrus	brain
29	chr11:86669200-86669600	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links