Variant report

Variant	rs12162175
Chromosome Location	chr18:12945215-12945216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12944542-12947768	K562	blood:	n/a	n/a
2	POLR2A	chr18:12945156-12945825	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:12944825-12945300	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12944143..12946293-chr18:12947055..12949999,2	MCF-7	breast:
2	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
3	chr18:12741288..12744269-chr18:12942770..12945438,2	MCF-7	breast:
4	chr18:12905939..12908311-chr18:12943241..12946202,2	K562	blood:
5	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:

No data

Variant related genes	Relation type
SEH1L	TF binding region
ENSG00000085415	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000101639	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3809911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949863	1.00[ASN][1000 genomes]
rs9960379	1.00[ASN][1000 genomes]
rs9964794	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats 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	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12938600-12946000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:12942800-12946400	Enhancers	Fetal Thymus	thymus
3	chr18:12943000-12946000	Enhancers	Thymus	Thymus
4	chr18:12943600-12946200	Weak transcription	NH-A	brain
5	chr18:12944400-12945600	Enhancers	Fetal Muscle Leg	muscle
6	chr18:12944600-12945400	Enhancers	Adipose Nuclei	Adipose
7	chr18:12944600-12945400	Enhancers	NHEK	skin
8	chr18:12944600-12945800	Enhancers	Fetal Muscle Trunk	muscle
9	chr18:12944600-12946000	Enhancers	Hela-S3	cervix
10	chr18:12944600-12946000	Enhancers	HSMMtube	muscle
11	chr18:12944600-12946200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:12944600-12946200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:12944600-12946200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12944600-12946200	Enhancers	HSMM	muscle
15	chr18:12944600-12946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:12944600-12946400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:12944600-12946600	Enhancers	Liver	Liver
18	chr18:12944600-12946800	Enhancers	Fetal Heart	heart
19	chr18:12944800-12945400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr18:12944800-12945400	Enhancers	Placenta	Placenta
21	chr18:12944800-12945400	Enhancers	NHLF	lung
22	chr18:12944800-12945800	Enhancers	Aorta	Aorta
23	chr18:12944800-12945800	Enhancers	K562	blood
24	chr18:12944800-12946200	Enhancers	Dnd41	blood
25	chr18:12944800-12946800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:12945000-12945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:12945000-12945600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:12945000-12945600	Weak transcription	HMEC	breast
29	chr18:12945000-12946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:12945000-12946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:12945000-12946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:12945000-12946000	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:12945000-12946000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr18:12945000-12946000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:12945000-12946000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:12945000-12946000	Weak transcription	NHDF-Ad	bronchial
37	chr18:12945000-12946200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:12945000-12946200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:12945000-12946200	Weak transcription	Spleen	Spleen
40	chr18:12945000-12946200	Enhancers	HepG2	liver
41	chr18:12945000-12946400	Weak transcription	Brain Anterior Caudate	brain
42	chr18:12945000-12946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:12945000-12946600	Enhancers	Osteobl	bone
44	chr18:12945000-12946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:12945000-12946800	Weak transcription	Brain Substantia Nigra	brain
46	chr18:12945000-12946800	Weak transcription	Left Ventricle	heart
47	chr18:12945000-12946800	Weak transcription	Psoas Muscle	Psoas
48	chr18:12945000-12946800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:12945000-12946800	Weak transcription	Right Atrium	heart
50	chr18:12945000-12947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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