Variant report

Variant	rs9954785
Chromosome Location	chr18:8341289-8341290
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	FOXA2	chr18:8341266-8342501	A549	lung:	n/a	chr18:8341775-8341787
2	MAX	chr18:8341217-8342467	A549	lung:	n/a	n/a
3	FOXA2	chr18:8341286-8342439	A549	lung:	n/a	chr18:8341775-8341787
4	NR3C1	chr18:8341209-8342673	A549	lung:	n/a	chr18:8342103-8342116
5	NR3C1	chr18:8341287-8342278	A549	lung:	n/a	chr18:8342103-8342116
6	GATA3	chr18:8341208-8342581	A549	lung:	n/a	chr18:8342014-8342021
7	TCF12	chr18:8341159-8342758	A549	lung:	n/a	n/a
8	FOXA2	chr18:8341254-8342305	HepG2	liver:	n/a	chr18:8341775-8341787
9	SP1	chr18:8341205-8342430	A549	lung:	n/a	n/a
10	EP300	chr18:8341160-8342748	A549	lung:	n/a	chr18:8342167-8342180 chr18:8342057-8342071
11	SP1	chr18:8341083-8342685	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000268046	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502369	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12606738	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1459172	0.80[AMR][1000 genomes]
rs1893226	1.00[GIH][hapmap]
rs637561	1.00[GIH][hapmap];0.80[MEX][hapmap]
rs7229251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
4	chr18:8321200-8341400	Weak transcription	Lung	lung
5	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
7	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:8330400-8341600	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:8330600-8341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:8332000-8341400	Weak transcription	Fetal Intestine Small	intestine
13	chr18:8334400-8341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:8337000-8341400	Weak transcription	Small Intestine	intestine
15	chr18:8337800-8341600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:8338800-8341400	Enhancers	HepG2	liver
17	chr18:8339400-8342000	Enhancers	Right Atrium	heart
18	chr18:8339400-8342200	Enhancers	Left Ventricle	heart
19	chr18:8339400-8342200	Enhancers	Right Ventricle	heart
20	chr18:8339400-8342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8339400-8344200	Enhancers	Fetal Heart	heart
22	chr18:8339600-8342200	Enhancers	Pancreas	Pancrea
23	chr18:8339600-8344000	Enhancers	Fetal Lung	lung
24	chr18:8339800-8341400	Weak transcription	Ovary	ovary
25	chr18:8339800-8341400	Weak transcription	NHLF	lung
26	chr18:8340200-8341400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8340200-8341400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:8340200-8341400	Weak transcription	Gastric	stomach
29	chr18:8340200-8344200	Weak transcription	Brain Anterior Caudate	brain
30	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas
31	chr18:8340400-8342200	Enhancers	Aorta	Aorta
32	chr18:8340800-8341800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:8340800-8343000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:8340800-8344200	Enhancers	Stomach Mucosa	stomach
35	chr18:8341000-8342000	Enhancers	HSMMtube	muscle
36	chr18:8341000-8342200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:8341000-8343000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:8341000-8343000	Enhancers	Liver	Liver
39	chr18:8341200-8341600	Enhancers	Brain Hippocampus Middle	brain
40	chr18:8341200-8341600	Flanking Active TSS	A549	lung
41	chr18:8341200-8342400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:8341200-8342600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:8341200-8342600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:8341200-8342600	Enhancers	NH-A	brain
45	chr18:8341200-8342600	Enhancers	Osteobl	bone
46	chr18:8341200-8343800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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