Variant report

Variant	rs11874423
Chromosome Location	chr18:44430828-44430829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs11872317	0.81[AMR][1000 genomes]
rs11872472	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11873793	0.81[AMR][1000 genomes]
rs11874218	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11874267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874300	0.81[AMR][1000 genomes]
rs11874582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875032	0.81[AMR][1000 genomes]
rs11875527	0.81[AMR][1000 genomes]
rs11875703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875918	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11876274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877429	1.00[CHB][hapmap]
rs11877650	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11877721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878114	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11878135	0.81[AMR][1000 genomes]
rs16949623	1.00[CHB][hapmap]
rs17472	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35539161	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3893054	1.00[CHB][hapmap]
rs4084161	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4341835	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4341836	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4640275	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55664322	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55710513	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752024	0.81[AMR][1000 genomes]
rs55756567	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55779584	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030315	0.81[AMR][1000 genomes]
rs56064494	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56095591	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56164202	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188847	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217029	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56279708	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56303451	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56352844	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.87[EUR][1000 genomes]
rs7229231	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs7230266	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7234512	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.84[EUR][1000 genomes]
rs7240843	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7242313	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7242768	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7243015	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.81[AMR][1000 genomes]
rs72905224	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72905246	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72905249	0.81[AMR][1000 genomes]
rs72905265	0.81[AMR][1000 genomes]
rs72905274	0.81[AMR][1000 genomes]
rs72905276	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72905289	0.81[AMR][1000 genomes]
rs72905292	0.81[AMR][1000 genomes]
rs72907105	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	0.81[AMR][1000 genomes]
rs72907128	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907130	0.81[AMR][1000 genomes]
rs72907132	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	0.81[AMR][1000 genomes]
rs72907142	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	0.81[AMR][1000 genomes]
rs72907199	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72909190	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909195	0.81[AMR][1000 genomes]
rs72911104	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911111	0.81[AMR][1000 genomes]
rs72911118	0.81[AMR][1000 genomes]
rs72913060	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72915084	0.81[AMR][1000 genomes]
rs72915093	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.81[AMR][1000 genomes]
rs72917159	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919213	0.81[AMR][1000 genomes]
rs72919280	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72919285	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3317401	chr18:44429293-44431156	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
5	esv3317402	chr18:44429293-44431156	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
4	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
5	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
7	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
8	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
9	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
11	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
12	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
15	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
16	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
17	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
18	chr18:44401400-44437600	Weak transcription	HMEC	breast
19	chr18:44402000-44440800	Weak transcription	A549	lung
20	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
26	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:44408000-44433800	Weak transcription	NH-A	brain
29	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
31	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
32	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:44408400-44433800	Weak transcription	Osteobl	bone
35	chr18:44408600-44431400	Weak transcription	Aorta	Aorta
36	chr18:44408600-44436800	Weak transcription	NHLF	lung
37	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:44408800-44431000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr18:44408800-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr18:44408800-44448200	Weak transcription	Lung	lung
42	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:44409400-44432400	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:44409400-44432800	Weak transcription	Ovary	ovary
46	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:44409800-44432800	Weak transcription	Thymus	Thymus

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