Variant report

Variant	rs13080318
Chromosome Location	chr3:133911425-133911426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11711122	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11716232	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13059653	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13065669	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13067053	0.82[EUR][1000 genomes]
rs13073076	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13074310	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13075472	0.89[EUR][1000 genomes]
rs13080570	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13096460	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28450327	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28484700	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28622917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28667241	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28726214	0.82[EUR][1000 genomes]
rs28785783	0.91[EUR][1000 genomes]
rs28852473	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34678092	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35241315	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35293292	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35338993	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35397189	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35702871	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35750568	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4077107	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4241373	0.89[EUR][1000 genomes]
rs4241374	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4280634	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4305420	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4342102	0.86[EUR][1000 genomes]
rs4345064	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4355279	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4380411	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4413311	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4419375	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4450812	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4507252	0.89[EUR][1000 genomes]
rs4507253	0.89[EUR][1000 genomes]
rs4546144	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4547696	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4552343	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4558752	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4640559	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4854611	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854614	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854615	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854811	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854812	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854817	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854818	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854820	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854825	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62269301	0.86[EUR][1000 genomes]
rs6439460	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439461	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776592	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6777817	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6796570	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6802495	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7611109	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7613782	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7626852	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7632489	0.89[EUR][1000 genomes]
rs7632556	0.89[EUR][1000 genomes]
rs7632691	0.89[EUR][1000 genomes]
rs7653175	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289460	0.86[EUR][1000 genomes]
rs9790149	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9827105	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9831998	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9842531	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9843541	0.86[EUR][1000 genomes]
rs9847033	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9850689	0.89[EUR][1000 genomes]
rs9853047	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9853568	0.85[CHB][hapmap]
rs9857486	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9857977	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9865639	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9867748	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9869195	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9869613	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870910	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9871137	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9877506	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878348	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9882875	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133871800-133919200	Weak transcription	K562	blood
2	chr3:133874400-133929400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:133874600-133933600	Weak transcription	Colonic Mucosa	Colon
4	chr3:133877600-133935200	Weak transcription	Psoas Muscle	Psoas
5	chr3:133877800-133920200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:133877800-133950200	Weak transcription	Small Intestine	intestine
7	chr3:133885600-133919600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:133888400-133923600	Weak transcription	Fetal Heart	heart
9	chr3:133893200-133917400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:133894400-133912600	Weak transcription	Fetal Thymus	thymus
11	chr3:133894800-133912600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:133894800-133917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:133894800-133917800	Weak transcription	Right Ventricle	heart
14	chr3:133894800-133917800	Weak transcription	Thymus	Thymus
15	chr3:133894800-133935200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:133894800-133946800	Weak transcription	Pancreas	Pancrea
17	chr3:133895000-133914400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:133895000-133917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:133895000-133917400	Weak transcription	Esophagus	oesophagus
20	chr3:133895000-133917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:133895000-133918000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:133895000-133918000	Weak transcription	Spleen	Spleen
23	chr3:133895000-133918600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:133895000-133918800	Weak transcription	Aorta	Aorta
25	chr3:133895000-133950000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:133895000-133950200	Weak transcription	Gastric	stomach
27	chr3:133895200-133912400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:133895200-133919600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:133895200-133927200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:133895400-133912600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:133895600-133912600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:133895600-133942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:133895800-133923400	Weak transcription	Lung	lung
34	chr3:133898600-133919400	Weak transcription	A549	lung
35	chr3:133898800-133916600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:133898800-133916800	Weak transcription	NHEK	skin
37	chr3:133899000-133918000	Weak transcription	HSMMtube	muscle
38	chr3:133899000-133919200	Weak transcription	NHLF	lung
39	chr3:133899200-133912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:133899600-133919000	Weak transcription	Brain Germinal Matrix	brain
41	chr3:133899800-133918000	Weak transcription	Fetal Brain Female	brain
42	chr3:133900200-133918800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:133900800-133918000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:133901000-133918000	Weak transcription	Left Ventricle	heart
45	chr3:133901400-133915400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:133901800-133912200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:133902000-133911600	Weak transcription	Hela-S3	cervix
48	chr3:133902000-133919600	Weak transcription	Fetal Brain Male	brain
49	chr3:133902000-133930400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:133902600-133913800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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