Variant report

Variant	rs12453985
Chromosome Location	chr18:25713304-25713305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25709085..25710676-chr18:25712480..25714365,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10853682	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083249	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083250	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564310	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564381	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872284	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11874384	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185349	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12454164	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12454769	0.90[ASN][1000 genomes]
rs12457737	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12457781	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458840	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458872	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12953509	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12969129	0.90[ASN][1000 genomes]
rs1443449	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17446505	0.90[ASN][1000 genomes]
rs17446547	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17468924	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17468987	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17469001	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1860642	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4800842	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8089347	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8095341	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
2	chr18:25696600-25715800	Weak transcription	HUVEC	blood vessel
3	chr18:25697800-25715600	Weak transcription	Dnd41	blood
4	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
6	chr18:25705000-25727800	Weak transcription	Ovary	ovary
7	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:25708800-25714600	Weak transcription	HSMM	muscle
9	chr18:25708800-25719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:25708800-25721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:25709000-25714800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:25709000-25719600	Weak transcription	Osteobl	bone
13	chr18:25709000-25724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:25709200-25715800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:25709400-25727600	Weak transcription	A549	lung
16	chr18:25710200-25727600	Weak transcription	HepG2	liver
17	chr18:25710400-25726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:25710400-25726400	Weak transcription	Fetal Brain Female	brain
19	chr18:25710400-25727600	Weak transcription	Brain Anterior Caudate	brain
20	chr18:25710400-25727600	Weak transcription	Brain Substantia Nigra	brain
21	chr18:25710600-25725000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr18:25710600-25727400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:25710600-25731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:25710800-25714800	Weak transcription	NH-A	brain
25	chr18:25711800-25713800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:25712600-25728400	Weak transcription	Right Ventricle	heart
27	chr18:25712600-25730000	Weak transcription	Left Ventricle	heart
28	chr18:25712800-25713800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:25712800-25714800	Weak transcription	Right Atrium	heart
30	chr18:25712800-25728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:25713000-25713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:25713000-25713600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:25713000-25714200	Weak transcription	Brain Germinal Matrix	brain
34	chr18:25713000-25722000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:25713000-25725000	Weak transcription	Liver	Liver
36	chr18:25713000-25727400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:25713200-25714400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:25713200-25714400	Weak transcription	Fetal Heart	heart
39	chr18:25713200-25719800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:25713200-25720200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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