Variant report

Variant	rs4944644
Chromosome Location	chr11:86669563-86669564
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:86669385-86669621	HepG2	liver:	n/a	n/a
2	HDAC2	chr11:86669383-86669672	HepG2	liver:	n/a	n/a
3	FOXA1	chr11:86669228-86669711	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:86669116-86669792	HepG2	liver:	n/a	n/a
5	CTCF	chr11:86669460-86669610	HepG2	liver:	n/a	n/a
6	MXI1	chr11:86669335-86669628	HepG2	liver:	n/a	n/a
7	FOXA2	chr11:86669272-86669677	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:86669326-86669651	T-47D	breast:	n/a	n/a
9	FOXA2	chr11:86669182-86669860	HepG2	liver:	n/a	n/a
10	MYC	chr11:86669403-86669579	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:86669217-86669659	HepG2	liver:	n/a	n/a
12	FOXA1	chr11:86669173-86669665	HepG2	liver:	n/a	n/a
13	HDAC2	chr11:86669204-86669658	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	0.81[AMR][1000 genomes]
rs4943965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944642	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735304	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:30 , 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	chr11:86668000-86669600	Enhancers	Psoas Muscle	Psoas
10	chr11:86668000-86669800	Enhancers	Fetal Brain Female	brain
11	chr11:86668000-86669800	Enhancers	Left Ventricle	heart
12	chr11:86668000-86669800	Enhancers	Right Atrium	heart
13	chr11:86668000-86684400	Weak transcription	Aorta	Aorta
14	chr11:86668200-86669600	Enhancers	Adipose Nuclei	Adipose
15	chr11:86668200-86669600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:86668200-86669600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86668200-86669600	Enhancers	Fetal Kidney	kidney
18	chr11:86668200-86669600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:86668200-86670200	Enhancers	HepG2	liver
20	chr11:86668400-86669600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:86668600-86670200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:86668600-86670800	Enhancers	Fetal Heart	heart
23	chr11:86668800-86669800	Enhancers	Lung	lung
24	chr11:86668800-86670000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:86669000-86670000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:86669200-86669600	Enhancers	Brain Anterior Caudate	brain
27	chr11:86669400-86669600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86669400-86669600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:86669400-86669600	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:86669400-86669600	Enhancers	Spleen	Spleen

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