Variant report

Variant	rs2684889
Chromosome Location	chr12:51079874-51079875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10747586	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783366	0.89[CEU][hapmap]
rs10783377	1.00[ASN][1000 genomes]
rs10783380	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap]
rs10876044	0.92[CEU][hapmap]
rs10876046	1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	1.00[ASN][1000 genomes]
rs11609506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11832315	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821270	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521516	1.00[CEU][hapmap]
rs2250751	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	1.00[ASN][1000 genomes]
rs2684898	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939211	1.00[ASN][1000 genomes]
rs56089074	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	1.00[ASN][1000 genomes]
rs57602501	1.00[ASN][1000 genomes]
rs57729468	1.00[ASN][1000 genomes]
rs6580769	1.00[ASN][1000 genomes]
rs66597435	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66838741	1.00[ASN][1000 genomes]
rs66947035	1.00[ASN][1000 genomes]
rs67356137	1.00[ASN][1000 genomes]
rs67701624	0.80[AMR][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	1.00[ASN][1000 genomes]
rs7305655	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7308872	0.83[EUR][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	1.00[ASN][1000 genomes]
rs7977064	1.00[ASN][1000 genomes]
rs7977690	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7978559	1.00[ASN][1000 genomes]
rs7979165	1.00[ASN][1000 genomes]
rs829112	1.00[ASN][1000 genomes]
rs829114	1.00[ASN][1000 genomes]
rs829115	1.00[ASN][1000 genomes]
rs865489	1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2684889	LASS5	cis	multi-tissue	Pritchard
rs2684889	KIAA1463	cis	multi-tissue	Pritchard
rs2684889	DIP2B	cis	multi-tissue	Pritchard
rs2684889	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51028400-51092400	Weak transcription	Gastric	stomach
2	chr12:51041800-51091400	Weak transcription	Pancreas	Pancrea
3	chr12:51049200-51108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51053000-51086200	Weak transcription	Psoas Muscle	Psoas
5	chr12:51053200-51092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:51053800-51089200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:51057000-51089600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:51058600-51089000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:51059400-51089600	Weak transcription	Small Intestine	intestine
10	chr12:51060000-51101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:51060200-51108200	Weak transcription	Stomach Mucosa	stomach
12	chr12:51061200-51080200	Weak transcription	Right Ventricle	heart
13	chr12:51062200-51080400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:51062600-51091800	Strong transcription	Liver	Liver
15	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:51063800-51085600	Strong transcription	Primary T cells from cord blood	blood
19	chr12:51064000-51109800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr12:51064000-51127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:51064800-51090000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:51064800-51095800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:51065200-51081800	Weak transcription	Spleen	Spleen
24	chr12:51066200-51080000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:51067200-51082600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:51067200-51084600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:51067200-51085400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:51067400-51085400	Strong transcription	Primary B cells from cord blood	blood
29	chr12:51067400-51106200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:51067400-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:51067600-51080400	Weak transcription	Esophagus	oesophagus
33	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:51068200-51095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:51068200-51106200	Strong transcription	Fetal Thymus	thymus
36	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
37	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:51068400-51095000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:51071000-51089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:51071400-51083800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:51071800-51080000	Weak transcription	Lung	lung
42	chr12:51072000-51080200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:51072000-51083800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:51072000-51089000	Weak transcription	NHDF-Ad	bronchial
45	chr12:51072200-51083000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:51072200-51089200	Weak transcription	Fetal Brain Male	brain
47	chr12:51072600-51080000	Weak transcription	Ovary	ovary
48	chr12:51072600-51084400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:51072800-51080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:51073000-51080400	Weak transcription	Brain Cingulate Gyrus	brain

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