Variant report

Variant	rs636391
Chromosome Location	chr18:29885871-29885872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11873022	1.00[CHB][hapmap]
rs1661817	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1674525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689029	0.80[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584111	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592430	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594344	0.83[TSI][hapmap]
rs595794	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61438236	0.83[ASN][1000 genomes]
rs620723	1.00[CHB][hapmap]
rs622584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632368	0.88[TSI][hapmap]
rs649408	0.88[TSI][hapmap]
rs661733	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664545	0.80[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667247	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs667604	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679614	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683701	0.83[TSI][hapmap]
rs72935558	0.83[ASN][1000 genomes]
rs8088892	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv528846	chr18:29832147-29890042	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv576637	chr18:29885871-29889172	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1833771	chr18:29885871-29889203	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1835867	chr18:29885871-29889203	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs636391	ASXL3	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868000-29888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:29868000-29888800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:29868000-29889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:29868000-29889000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:29868200-29889800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:29868200-29923800	Weak transcription	Gastric	stomach
7	chr18:29878400-29888800	Weak transcription	Liver	Liver
8	chr18:29878400-29890000	Weak transcription	Fetal Kidney	kidney
9	chr18:29878400-29896000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:29878600-29888000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:29878600-29890200	Weak transcription	Brain Angular Gyrus	brain
12	chr18:29878800-29890000	Weak transcription	Fetal Brain Male	brain
13	chr18:29880800-29897000	Weak transcription	Lung	lung
14	chr18:29881600-29892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr18:29881800-29888800	Weak transcription	Fetal Stomach	stomach
16	chr18:29882000-29888200	Weak transcription	HSMM	muscle
17	chr18:29882200-29888800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:29882200-29888800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:29882200-29890000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:29882600-29888200	Weak transcription	NHEK	skin
21	chr18:29882800-29888200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:29882800-29888600	Weak transcription	NH-A	brain
23	chr18:29882800-29888800	Weak transcription	Small Intestine	intestine
24	chr18:29882800-29889000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:29882800-29890000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:29883000-29888000	Weak transcription	HMEC	breast
27	chr18:29883000-29888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:29883000-29888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:29883000-29888800	Weak transcription	HSMMtube	muscle
30	chr18:29883000-29890800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:29883000-29891400	Weak transcription	Adipose Nuclei	Adipose
32	chr18:29883000-29891600	Weak transcription	Pancreas	Pancrea
33	chr18:29883000-29895800	Weak transcription	Stomach Mucosa	stomach
34	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
35	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
36	chr18:29883200-29888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29883200-29889000	Weak transcription	NHDF-Ad	bronchial
38	chr18:29883400-29888200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:29883400-29889000	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:29883600-29888200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:29883800-29888800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:29883800-29888800	Weak transcription	Aorta	Aorta
44	chr18:29883800-29888800	Weak transcription	Right Atrium	heart
45	chr18:29883800-29888800	Weak transcription	Right Ventricle	heart
46	chr18:29883800-29893000	Weak transcription	Fetal Heart	heart
47	chr18:29885800-29886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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