Variant report

Variant	rs9949585
Chromosome Location	chr18:9474035-9474036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:9473591-9476846	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr18:9473953-9476669	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr18:9473965-9474260	HepG2	liver:	n/a	n/a
4	POLR2A	chr18:9473877-9476234	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr18:9473932-9474475	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:9473937-9476051	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr18:9473924-9476068	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:9473983-9476261	Raji	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
2	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-3	chr18:9473426-9474384	NONHSAT057222

No data

Variant related genes	Relation type
ENSG00000273335	TF binding region
RALBP1	TF binding region
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11872337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11873574	1.00[AMR][1000 genomes]
rs11877029	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28421034	1.00[AMR][1000 genomes]
rs28448446	1.00[AMR][1000 genomes]
rs28558090	1.00[AMR][1000 genomes]
rs28576116	1.00[AMR][1000 genomes]
rs9952572	1.00[AMR][1000 genomes]
rs9952938	1.00[AMR][1000 genomes]
rs9956337	1.00[AMR][1000 genomes]
rs9957025	1.00[AMR][1000 genomes]
rs9960613	1.00[AMR][1000 genomes]
rs9963842	1.00[AMR][1000 genomes]
rs9966133	1.00[AMR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS 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	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9467200-9474200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr18:9473000-9474200	Weak transcription	Thymus	Thymus
3	chr18:9473600-9474200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9473600-9474200	Enhancers	Brain Germinal Matrix	brain
5	chr18:9473600-9474200	Enhancers	Fetal Heart	heart
6	chr18:9473600-9474200	Enhancers	Fetal Intestine Large	intestine
7	chr18:9473600-9474400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:9473800-9474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:9473800-9474200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr18:9473800-9474200	Enhancers	Fetal Intestine Small	intestine
11	chr18:9473800-9474200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr18:9473800-9474200	Enhancers	HMEC	breast
13	chr18:9473800-9474200	Enhancers	NHEK	skin
14	chr18:9473800-9474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9473800-9474400	Enhancers	Fetal Muscle Leg	muscle
16	chr18:9473800-9474400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr18:9473800-9474600	Flanking Active TSS	Fetal Kidney	kidney
18	chr18:9474000-9474200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:9474000-9474200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:9474000-9474200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:9474000-9474200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr18:9474000-9474200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr18:9474000-9474200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:9474000-9474200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9474000-9474200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:9474000-9474200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:9474000-9474200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:9474000-9474200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:9474000-9474200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:9474000-9474200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr18:9474000-9474200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr18:9474000-9474200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9474000-9474200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:9474000-9474200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:9474000-9474200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9474000-9474200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:9474000-9474200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:9474000-9474200	Enhancers	Adipose Nuclei	Adipose
39	chr18:9474000-9474200	Enhancers	Liver	Liver
40	chr18:9474000-9474200	Enhancers	Brain Hippocampus Middle	brain
41	chr18:9474000-9474200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr18:9474000-9474200	Enhancers	Colonic Mucosa	Colon
43	chr18:9474000-9474200	Enhancers	Duodenum Mucosa	Duodenum
44	chr18:9474000-9474200	Enhancers	Esophagus	oesophagus
45	chr18:9474000-9474200	Enhancers	Fetal Brain Female	brain
46	chr18:9474000-9474200	Enhancers	Fetal Stomach	stomach
47	chr18:9474000-9474200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr18:9474000-9474200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr18:9474000-9474200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr18:9474000-9474200	Enhancers	Stomach Mucosa	stomach

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