Variant report

Variant	rs73416981
Chromosome Location	chr18:12906947-12906948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:12906924-12907114	HepG2	liver:	n/a	n/a
2	CHD2	chr18:12906869-12906966	HepG2	liver:	n/a	n/a
3	CHD2	chr18:12906876-12906949	K562	blood:	n/a	n/a
4	POLR2A	chr18:12906928-12907031	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:12905939..12908311-chr18:12943241..12946202,2	K562	blood:
2	chr18:12902756..12905734-chr18:12905891..12908920,3	K562	blood:
3	chr18:12906281..12908025-chr18:12908440..12911989,3	MCF-7	breast:
4	chr18:12883263..12885486-chr18:12905006..12907871,2	MCF-7	breast:
5	chr18:12871381..12873022-chr18:12906708..12908955,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267570	TF binding region
ENSG00000175354	Chromatin interaction
ENSG00000267570	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16939974	0.96[ASN][1000 genomes]
rs9916925	0.96[ASN][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12904200-12908600	Weak transcription	Left Ventricle	heart
2	chr18:12904400-12907200	Weak transcription	NHLF	lung
3	chr18:12904400-12911200	Weak transcription	Spleen	Spleen
4	chr18:12904600-12907400	Weak transcription	Hela-S3	cervix
5	chr18:12904600-12910000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr18:12905000-12907200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:12905000-12907200	Weak transcription	K562	blood
8	chr18:12905800-12907400	Enhancers	Lung	lung
9	chr18:12906200-12907000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:12906200-12907200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12906200-12907400	Enhancers	Placenta	Placenta
12	chr18:12906200-12909200	Enhancers	Fetal Thymus	thymus
13	chr18:12906400-12907400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr18:12906400-12909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:12906600-12907200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:12906600-12907200	Enhancers	Osteobl	bone
17	chr18:12906600-12907400	Enhancers	Ovary	ovary
18	chr18:12906600-12907600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:12906600-12907600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr18:12906800-12907000	Enhancers	Gastric	stomach
21	chr18:12906800-12907000	Bivalent Enhancer	HUVEC	blood vessel
22	chr18:12906800-12907000	Bivalent Enhancer	NH-A	brain
23	chr18:12906800-12907200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:12906800-12907400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:12906800-12907400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr18:12906800-12907400	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr18:12906800-12907400	Enhancers	NHDF-Ad	bronchial
28	chr18:12906800-12907600	Enhancers	Aorta	Aorta
29	chr18:12906800-12908000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:12906800-12908200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr18:12906800-12908200	Enhancers	Right Atrium	heart
32	chr18:12906800-12908400	Enhancers	Fetal Lung	lung
33	chr18:12906800-12911000	Weak transcription	Right Ventricle	heart

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