Variant report

Variant	rs12326122
Chromosome Location	chr18:44634445-44634446
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10083937	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11082563	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11082564	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11872531	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11873880	0.91[AFR][1000 genomes]
rs11875768	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12326221	0.91[AFR][1000 genomes]
rs12326412	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12326457	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12326465	1.00[YRI][hapmap]
rs12386076	0.91[AFR][1000 genomes]
rs12386092	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12386097	0.91[AFR][1000 genomes]
rs1434528	0.82[YRI][hapmap]
rs16948914	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16948928	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16949157	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16949275	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16952848	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs16958432	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16958440	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16958699	0.91[AFR][1000 genomes]
rs16958701	0.91[AFR][1000 genomes]
rs17784414	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2117373	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2289130	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2289131	1.00[YRI][hapmap]
rs2289132	0.82[YRI][hapmap];0.91[AFR][1000 genomes]
rs28578518	0.91[AFR][1000 genomes]
rs28587821	0.91[AFR][1000 genomes]
rs3809965	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs3809966	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4609941	0.83[AFR][1000 genomes]
rs56395942	0.91[AFR][1000 genomes]
rs57744138	0.91[AFR][1000 genomes]
rs57928699	0.91[AFR][1000 genomes]
rs58061761	0.91[AFR][1000 genomes]
rs60228288	0.91[AFR][1000 genomes]
rs60422392	0.91[AFR][1000 genomes]
rs60726022	0.83[AFR][1000 genomes]
rs60854219	0.91[AFR][1000 genomes]
rs61316646	0.91[AFR][1000 genomes]
rs61689863	0.86[AFR][1000 genomes]
rs62095459	0.86[AFR][1000 genomes]
rs62096463	0.91[AFR][1000 genomes]
rs62096464	0.91[AFR][1000 genomes]
rs62096465	0.91[AFR][1000 genomes]
rs62096466	0.91[AFR][1000 genomes]
rs62096468	0.95[AFR][1000 genomes]
rs62096469	0.91[AFR][1000 genomes]
rs62096470	0.91[AFR][1000 genomes]
rs62096471	0.91[AFR][1000 genomes]
rs62096474	0.91[AFR][1000 genomes]
rs62096477	0.91[AFR][1000 genomes]
rs62096478	0.91[AFR][1000 genomes]
rs72907280	0.91[AFR][1000 genomes]
rs73426039	1.00[AMR][1000 genomes]
rs73426058	1.00[AMR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44607600-44637600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr18:44609200-44638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:44611600-44635600	Weak transcription	Psoas Muscle	Psoas
4	chr18:44613800-44638200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr18:44617200-44635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:44620600-44635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44620800-44675400	Weak transcription	A549	lung
8	chr18:44621200-44634800	Weak transcription	Pancreas	Pancrea
9	chr18:44621400-44638600	Weak transcription	Colonic Mucosa	Colon
10	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
11	chr18:44623000-44637400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:44623200-44635200	Weak transcription	HepG2	liver
13	chr18:44623800-44635000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:44624200-44634800	Weak transcription	Gastric	stomach
15	chr18:44624200-44654200	Weak transcription	Fetal Heart	heart
16	chr18:44624400-44637400	Weak transcription	HMEC	breast
17	chr18:44624400-44640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:44624600-44635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:44626800-44634600	Weak transcription	NHEK	skin
21	chr18:44626800-44637400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr18:44627000-44635000	Weak transcription	Brain Germinal Matrix	brain
23	chr18:44627000-44636600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:44627200-44635200	Weak transcription	Fetal Intestine Small	intestine
25	chr18:44627200-44638000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:44628200-44640200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:44628400-44637800	Weak transcription	GM12878-XiMat	blood
28	chr18:44628600-44635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr18:44628600-44640000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr18:44628600-44640600	Weak transcription	Esophagus	oesophagus
31	chr18:44628600-44641400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr18:44629000-44637600	Weak transcription	NHDF-Ad	bronchial
33	chr18:44629200-44637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
35	chr18:44629400-44634800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:44629400-44635200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:44629400-44642200	Strong transcription	Liver	Liver
38	chr18:44629400-44642400	Strong transcription	Primary T cells from cord blood	blood
39	chr18:44629600-44635000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:44629600-44640400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:44629800-44636600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:44629800-44642400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:44630000-44635000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:44630000-44641600	Strong transcription	Fetal Lung	lung
45	chr18:44630000-44641800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr18:44630000-44641800	Strong transcription	Dnd41	blood
47	chr18:44630000-44642000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:44630000-44642200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr18:44630000-44642600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr18:44630200-44637800	Weak transcription	Osteobl	bone

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