Variant report

Variant	rs12969129
Chromosome Location	chr18:25705387-25705388
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10853682	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11083249	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11083250	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11083252	1.00[JPT][hapmap]
rs11564299	1.00[JPT][hapmap]
rs11564310	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11564336	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11564341	1.00[JPT][hapmap]
rs11564381	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11874384	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11874478	1.00[JPT][hapmap]
rs12185349	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12453985	0.90[ASN][1000 genomes]
rs12454164	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12454769	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457737	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12457781	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12458418	1.00[JPT][hapmap]
rs12458840	0.90[ASN][1000 genomes]
rs12458872	0.90[ASN][1000 genomes]
rs12953509	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12956036	1.00[JPT][hapmap]
rs12959867	1.00[JPT][hapmap]
rs12960181	1.00[JPT][hapmap]
rs1443449	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17446505	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446547	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17446875	1.00[JPT][hapmap]
rs17468924	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17468987	1.00[ASN][1000 genomes]
rs17469001	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17469371	1.00[JPT][hapmap]
rs17536472	1.00[JPT][hapmap]
rs1860642	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1944288	1.00[JPT][hapmap]
rs2067772	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2191636	1.00[JPT][hapmap]
rs4800289	1.00[JPT][hapmap]
rs4800842	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6508526	1.00[JPT][hapmap]
rs719723	1.00[JPT][hapmap]
rs8089347	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8091862	1.00[JPT][hapmap]
rs8095341	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3418399	chr18:25705213-25705413	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25695400-25708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:25695600-25706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
4	chr18:25696600-25715800	Weak transcription	HUVEC	blood vessel
5	chr18:25697000-25705600	Weak transcription	NHLF	lung
6	chr18:25697000-25708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:25697800-25715600	Weak transcription	Dnd41	blood
8	chr18:25698200-25708000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:25702000-25708400	Weak transcription	Left Ventricle	heart
10	chr18:25702000-25708400	Weak transcription	Right Ventricle	heart
11	chr18:25702000-25712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:25703000-25705400	Enhancers	Fetal Heart	heart
13	chr18:25703200-25705600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:25703200-25705800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:25703200-25707400	Enhancers	Liver	Liver
16	chr18:25703800-25705400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:25703800-25706800	Weak transcription	Right Atrium	heart
18	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
20	chr18:25704000-25705400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:25704000-25705400	Enhancers	Brain Germinal Matrix	brain
22	chr18:25704000-25705600	Enhancers	Osteobl	bone
23	chr18:25704000-25708000	Enhancers	HepG2	liver
24	chr18:25704200-25705400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:25704200-25708200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr18:25704800-25705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:25704800-25708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:25704800-25710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr18:25705000-25705400	Enhancers	Fetal Brain Male	brain
30	chr18:25705000-25707800	Weak transcription	Brain Angular Gyrus	brain
31	chr18:25705000-25709800	Weak transcription	Brain Substantia Nigra	brain
32	chr18:25705000-25727800	Weak transcription	Ovary	ovary
33	chr18:25705200-25705400	Flanking Active TSS	A549	lung
34	chr18:25705200-25705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:25705200-25706200	Weak transcription	Fetal Brain Female	brain
36	chr18:25705200-25706600	Weak transcription	NH-A	brain
37	chr18:25705200-25707800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:25705200-25708000	Weak transcription	HSMM	muscle
39	chr18:25705200-25708400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:25705200-25708400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:25705200-25710000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:25705200-25710000	Weak transcription	Brain Anterior Caudate	brain
43	chr18:25705200-25710000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:25705200-25710200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr18:25705200-25710200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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