Variant report

Variant	rs1941384
Chromosome Location	chr18:25734936-25734937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1015847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10513896	0.85[CHB][hapmap]
rs11083253	0.85[CHB][hapmap]
rs11564339	0.85[CHB][hapmap]
rs1231268	0.94[LWK][hapmap]
rs12605662	0.85[CHB][hapmap]
rs17446980	0.85[CHB][hapmap]
rs1785835	0.94[LWK][hapmap]
rs1789470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2535597	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs28365327	0.85[CHB][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1941384	CABYR	cis	parietal	SCAN
rs1941384	CTAGE1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25726000-25739200	Weak transcription	HSMM	muscle
3	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:25728000-25737400	Weak transcription	Fetal Lung	lung
5	chr18:25728200-25739200	Weak transcription	HepG2	liver
6	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
7	chr18:25729200-25737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:25729200-25739000	Weak transcription	A549	lung
9	chr18:25730000-25735000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:25730000-25738000	Weak transcription	Fetal Stomach	stomach
11	chr18:25730200-25738000	Weak transcription	Aorta	Aorta
12	chr18:25730400-25736200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:25730400-25736400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:25730600-25736200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:25730800-25738800	Enhancers	Brain Substantia Nigra	brain
16	chr18:25731000-25736000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr18:25731000-25736000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr18:25731000-25738000	Enhancers	Brain Angular Gyrus	brain
19	chr18:25731000-25738000	Enhancers	Brain Anterior Caudate	brain
20	chr18:25731600-25736800	Weak transcription	Liver	Liver
21	chr18:25731800-25740600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:25732400-25735200	Enhancers	Left Ventricle	heart
23	chr18:25732400-25735600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:25732400-25736000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:25732600-25736800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:25732800-25736400	Enhancers	Brain Germinal Matrix	brain
27	chr18:25732800-25737800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr18:25733000-25735800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:25733000-25736200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr18:25733000-25738400	Weak transcription	Gastric	stomach
31	chr18:25733000-25741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:25733600-25735600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:25733600-25736000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:25733600-25736600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:25733600-25738200	Weak transcription	Osteobl	bone
36	chr18:25733600-25743400	Weak transcription	Fetal Brain Male	brain
37	chr18:25733800-25740200	Weak transcription	NH-A	brain
38	chr18:25734000-25736000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr18:25734000-25736400	Weak transcription	Right Atrium	heart
40	chr18:25734000-25737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:25734000-25738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:25734000-25743200	Weak transcription	Fetal Brain Female	brain
43	chr18:25734200-25736200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:25734400-25738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:25734400-25742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:25734600-25735000	Weak transcription	Right Ventricle	heart
47	chr18:25734600-25738000	Enhancers	Brain Cingulate Gyrus	brain
48	chr18:25734600-25738600	Enhancers	Brain Hippocampus Middle	brain
49	chr18:25734600-25739200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:25734600-25748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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