Variant report

Variant	rs1142044
Chromosome Location	chr18:39664500-39664501
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11873469	1.00[EUR][1000 genomes]
rs11873602	1.00[EUR][1000 genomes]
rs11874766	1.00[EUR][1000 genomes]
rs11874775	1.00[EUR][1000 genomes]
rs11874814	1.00[EUR][1000 genomes]
rs11874830	1.00[EUR][1000 genomes]
rs11876547	1.00[EUR][1000 genomes]
rs11876578	1.00[EUR][1000 genomes]
rs11877901	1.00[EUR][1000 genomes]
rs1540057	1.00[EUR][1000 genomes]
rs16975441	1.00[EUR][1000 genomes]
rs16975447	1.00[EUR][1000 genomes]
rs16975463	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975466	1.00[EUR][1000 genomes]
rs16975521	1.00[EUR][1000 genomes]
rs2469471	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490578	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs493100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55655849	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563840	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56411890	1.00[EUR][1000 genomes]
rs56751463	1.00[EUR][1000 genomes]
rs56979511	1.00[EUR][1000 genomes]
rs57208863	1.00[EUR][1000 genomes]
rs575366	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58298297	1.00[EUR][1000 genomes]
rs583163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58390786	1.00[EUR][1000 genomes]
rs584022	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586797	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58881642	1.00[EUR][1000 genomes]
rs591870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593689	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910026	0.87[AMR][1000 genomes]
rs606366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608428	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616575	1.00[EUR][1000 genomes]
rs633541	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635560	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640460	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643772	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645148	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs647084	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6507453	1.00[EUR][1000 genomes]
rs6507454	1.00[EUR][1000 genomes]
rs655693	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659950	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6650669	1.00[EUR][1000 genomes]
rs667346	0.87[AMR][1000 genomes]
rs669235	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670429	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684091	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229485	1.00[EUR][1000 genomes]
rs7237185	1.00[EUR][1000 genomes]
rs7237815	1.00[EUR][1000 genomes]
rs7238919	1.00[EUR][1000 genomes]
rs7239880	1.00[EUR][1000 genomes]
rs7240066	1.00[EUR][1000 genomes]
rs7241399	1.00[EUR][1000 genomes]
rs7242077	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245131	1.00[EUR][1000 genomes]
rs7343027	1.00[EUR][1000 genomes]
rs73448558	1.00[EUR][1000 genomes]
rs73451096	1.00[EUR][1000 genomes]
rs73452235	1.00[EUR][1000 genomes]
rs73452297	1.00[EUR][1000 genomes]
rs73452300	1.00[EUR][1000 genomes]
rs73453013	1.00[EUR][1000 genomes]
rs73454552	1.00[EUR][1000 genomes]
rs73454573	1.00[EUR][1000 genomes]
rs73454580	1.00[EUR][1000 genomes]
rs73454581	1.00[EUR][1000 genomes]
rs73454593	1.00[EUR][1000 genomes]
rs73454596	1.00[EUR][1000 genomes]
rs73454602	1.00[EUR][1000 genomes]
rs73950814	1.00[EUR][1000 genomes]
rs8084037	1.00[EUR][1000 genomes]
rs8085708	1.00[EUR][1000 genomes]
rs8089142	1.00[EUR][1000 genomes]
rs8090403	1.00[EUR][1000 genomes]
rs8095945	1.00[EUR][1000 genomes]
rs9948650	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1057988	chr18:39618253-39713904	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1065792	chr18:39619676-39711798	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1057790	chr18:39621947-39705550	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2762006	chr18:39621947-39713916	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv1063952	chr18:39621947-39718600	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1064973	chr18:39623604-39711798	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv833631	chr18:39633503-39824091	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
4	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:39612200-39666400	Weak transcription	Gastric	stomach
6	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
7	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:39628600-39666200	Weak transcription	A549	lung
9	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:39644200-39674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:39644600-39665000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr18:39644800-39665000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:39648200-39665400	Weak transcription	Spleen	Spleen
14	chr18:39648200-39666400	Weak transcription	Thymus	Thymus
15	chr18:39648200-39668200	Weak transcription	Brain Angular Gyrus	brain
16	chr18:39649200-39665600	Weak transcription	HepG2	liver
17	chr18:39649200-39674600	Weak transcription	Fetal Intestine Small	intestine
18	chr18:39650400-39665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr18:39653000-39666200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:39653000-39683400	Weak transcription	Aorta	Aorta
21	chr18:39653400-39665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr18:39653400-39668000	Weak transcription	Pancreas	Pancrea
23	chr18:39653600-39669600	Weak transcription	NHLF	lung
24	chr18:39654000-39669600	Weak transcription	HSMMtube	muscle
25	chr18:39655800-39665000	Strong transcription	GM12878-XiMat	blood
26	chr18:39657600-39669600	Weak transcription	Lung	lung
27	chr18:39657800-39666200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:39657800-39666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:39657800-39668200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:39657800-39669000	Weak transcription	Fetal Brain Female	brain
31	chr18:39659000-39664600	Weak transcription	Small Intestine	intestine
32	chr18:39659000-39666400	Weak transcription	Hela-S3	cervix
33	chr18:39659000-39667600	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:39659000-39668800	Weak transcription	Fetal Kidney	kidney
35	chr18:39659400-39667200	Weak transcription	Brain Hippocampus Middle	brain
36	chr18:39659600-39666400	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:39659800-39664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:39659800-39665400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:39659800-39668000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr18:39659800-39668200	Weak transcription	Brain Substantia Nigra	brain
41	chr18:39659800-39668600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:39659800-39669400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:39659800-39675400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:39660000-39666200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:39660000-39666400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr18:39660000-39674400	Weak transcription	Fetal Intestine Large	intestine
47	chr18:39660200-39666400	Weak transcription	Fetal Thymus	thymus
48	chr18:39660200-39668000	Weak transcription	Brain Anterior Caudate	brain
49	chr18:39660200-39670000	Weak transcription	Ovary	ovary
50	chr18:39660400-39668000	Weak transcription	Fetal Brain Male	brain

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