Variant report

Variant	rs11609506
Chromosome Location	chr12:51057097-51057098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51051582..51054443-chr12:51056838..51059064,2	K562	blood:
2	chr12:51049163..51051567-chr12:51056264..51058579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200183	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747586	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10783380	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10876046	0.82[EUR][1000 genomes]
rs11609231	0.81[EUR][1000 genomes]
rs11611288	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11832315	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12821270	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2250751	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2250752	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2251024	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2251603	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2252589	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2684889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2684898	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2684900	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684901	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2700479	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2700480	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700485	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2731434	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2731439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2731440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2731442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2731443	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55939211	0.81[EUR][1000 genomes]
rs56089074	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56104942	0.80[EUR][1000 genomes]
rs66597435	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66644594	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67701624	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs68171620	0.83[EUR][1000 genomes]
rs7131795	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7135837	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7305655	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7307815	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7968440	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7977690	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7977742	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11609506	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
2	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
3	chr12:51022000-51065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:51022000-51068400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:51022600-51064600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:51028400-51092400	Weak transcription	Gastric	stomach
7	chr12:51030800-51064800	Weak transcription	Spleen	Spleen
8	chr12:51030800-51065000	Weak transcription	Left Ventricle	heart
9	chr12:51031400-51058800	Weak transcription	Small Intestine	intestine
10	chr12:51031400-51064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:51031800-51068200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:51032200-51065000	Weak transcription	Fetal Lung	lung
13	chr12:51032200-51069000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:51035600-51064600	Weak transcription	Lung	lung
15	chr12:51036000-51068200	Weak transcription	Thymus	Thymus
16	chr12:51036200-51057800	Weak transcription	Hela-S3	cervix
17	chr12:51036200-51068200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:51036800-51070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:51037000-51058200	Weak transcription	Fetal Intestine Small	intestine
20	chr12:51038000-51064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:51041200-51067200	Weak transcription	Fetal Stomach	stomach
22	chr12:51041400-51065000	Weak transcription	K562	blood
23	chr12:51041400-51068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:51041600-51057800	Weak transcription	NHEK	skin
25	chr12:51041800-51057600	Weak transcription	NH-A	brain
26	chr12:51041800-51066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:51041800-51091400	Weak transcription	Pancreas	Pancrea
28	chr12:51044000-51070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:51045600-51067200	Weak transcription	HUVEC	blood vessel
30	chr12:51048800-51058000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:51049000-51065000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:51049200-51108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:51049800-51065000	Weak transcription	HMEC	breast
34	chr12:51051200-51068200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:51051600-51070400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:51051800-51068400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:51052200-51071600	Weak transcription	Osteobl	bone
38	chr12:51052400-51068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:51052600-51062400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:51052800-51065200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:51053000-51060600	Enhancers	Brain Angular Gyrus	brain
42	chr12:51053000-51062000	Enhancers	Brain Hippocampus Middle	brain
43	chr12:51053000-51062200	Enhancers	Brain Substantia Nigra	brain
44	chr12:51053000-51086200	Weak transcription	Psoas Muscle	Psoas
45	chr12:51053200-51059800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:51053200-51060400	Enhancers	Brain Cingulate Gyrus	brain
47	chr12:51053200-51070000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:51053200-51092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:51053600-51057200	Strong transcription	Primary T cells from cord blood	blood
50	chr12:51053600-51061000	Enhancers	Brain Inferior Temporal Lobe	brain

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