Variant report

Variant	rs3786420
Chromosome Location	chr18:25592197-25592198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12955211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1662731	1.00[CHB][hapmap]
rs17445819	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17445833	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17445840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17445973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446036	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446064	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446134	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446162	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446176	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446218	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446323	0.81[AFR][1000 genomes]
rs17446337	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446358	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446372	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17446386	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17446435	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17468226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468324	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468469	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17468601	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17468650	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17468755	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17468811	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2298574	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2586577	1.00[CHB][hapmap]
rs28365282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28365284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365300	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs41274322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505314	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508523	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7238774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095618	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs9646566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
4	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:25565000-25592800	Weak transcription	A549	lung
6	chr18:25573600-25593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr18:25580600-25593400	Weak transcription	Ovary	ovary
8	chr18:25580600-25595800	Weak transcription	Left Ventricle	heart
9	chr18:25582400-25593200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:25582600-25594000	Weak transcription	Dnd41	blood
11	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:25583800-25593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
14	chr18:25584200-25592400	Weak transcription	Brain Angular Gyrus	brain
15	chr18:25584400-25594200	Weak transcription	Brain Anterior Caudate	brain
16	chr18:25584400-25595000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:25585200-25592800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:25585400-25593400	Weak transcription	Fetal Brain Male	brain
19	chr18:25585600-25592400	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:25585600-25593400	Weak transcription	HSMMtube	muscle
21	chr18:25585800-25594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:25587600-25592400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:25588000-25592600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:25588000-25593600	Strong transcription	NH-A	brain
25	chr18:25588200-25593400	Weak transcription	HUVEC	blood vessel
26	chr18:25589800-25593800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:25590000-25596000	Weak transcription	Fetal Brain Female	brain
29	chr18:25590600-25593800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:25591200-25592600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr18:25591200-25593000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:25591200-25593600	Strong transcription	HSMM	muscle
33	chr18:25591400-25592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr18:25591400-25592400	Strong transcription	Brain Germinal Matrix	brain
35	chr18:25591400-25592600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:25591400-25592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr18:25591400-25593800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
38	chr18:25591400-25594400	Enhancers	Fetal Lung	lung
39	chr18:25591600-25595800	Weak transcription	HepG2	liver
40	chr18:25591800-25592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:25592000-25592400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:25592000-25593600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:25592000-25593600	Weak transcription	Osteobl	bone
44	chr18:25592000-25594000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr18:25592000-25595200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:25592000-25599000	Weak transcription	Liver	Liver

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