Variant report

Variant	rs1443449
Chromosome Location	chr18:25703643-25703644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853682	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083250	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083252	1.00[JPT][hapmap]
rs11564299	1.00[JPT][hapmap]
rs11564310	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564336	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564341	1.00[JPT][hapmap]
rs11564381	0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11872284	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874384	0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11874478	1.00[JPT][hapmap]
rs12185349	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12453985	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12454164	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454769	1.00[ASN][1000 genomes]
rs12457737	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457781	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458418	1.00[JPT][hapmap]
rs12458840	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458872	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12953509	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956036	1.00[JPT][hapmap]
rs12959867	1.00[JPT][hapmap]
rs12960181	1.00[JPT][hapmap]
rs12969129	1.00[ASN][1000 genomes]
rs17446505	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17446547	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446875	1.00[JPT][hapmap]
rs17468924	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17468987	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469371	1.00[JPT][hapmap]
rs17536472	1.00[JPT][hapmap]
rs1860642	0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944288	1.00[JPT][hapmap]
rs2067772	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191636	1.00[JPT][hapmap]
rs4800289	1.00[JPT][hapmap]
rs4800842	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508526	1.00[JPT][hapmap]
rs719723	1.00[JPT][hapmap]
rs8089347	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091862	1.00[JPT][hapmap]
rs8095341	1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:48 , 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	chr18:25702000-25705000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:25702000-25708400	Weak transcription	Left Ventricle	heart
11	chr18:25702000-25708400	Weak transcription	Right Ventricle	heart
12	chr18:25702000-25712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:25702600-25703800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:25703000-25705400	Enhancers	Fetal Heart	heart
15	chr18:25703200-25703800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:25703200-25704000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr18:25703200-25704600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr18:25703200-25704800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:25703200-25705200	Enhancers	A549	lung
20	chr18:25703200-25705600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:25703200-25705800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:25703200-25707400	Enhancers	Liver	Liver
23	chr18:25703400-25703800	Enhancers	Brain Angular Gyrus	brain
24	chr18:25703400-25704200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:25703400-25704400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:25703400-25704600	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr18:25703400-25704800	Enhancers	Fetal Brain Male	brain
28	chr18:25703400-25705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:25703400-25705200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:25703600-25703800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:25703600-25703800	Enhancers	Aorta	Aorta
32	chr18:25703600-25703800	Flanking Active TSS	Ovary	ovary
33	chr18:25703600-25703800	Enhancers	Right Atrium	heart
34	chr18:25703600-25704000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:25703600-25704000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr18:25703600-25704000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr18:25703600-25704000	Flanking Active TSS	Osteobl	bone
38	chr18:25703600-25704200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:25703600-25704200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:25703600-25704200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:25703600-25704200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr18:25703600-25704200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:25703600-25704800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr18:25703600-25705000	Enhancers	Brain Substantia Nigra	brain
45	chr18:25703600-25705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:25703600-25705200	Enhancers	Fetal Brain Female	brain
47	chr18:25703600-25705200	Enhancers	HSMM	muscle
48	chr18:25703600-25705200	Enhancers	NH-A	brain

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