Variant report

Variant	rs6569477
Chromosome Location	chr6:127589302-127589303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127588197..127590428-chr6:127606937..127608743,2	K562	blood:
2	chr6:127586417..127590637-chr6:127662350..127666578,4	K562	blood:
3	chr6:127586572..127589762-chr6:127662304..127666058,6	K562	blood:
4	chr6:127508094..127510300-chr6:127588248..127590537,2	MCF-7	breast:
5	chr6:126305765..126308480-chr6:127588019..127589649,2	K562	blood:
6	chr6:127562712..127565614-chr6:127588197..127589724,2	K562	blood:

Variant related genes	Relation type
ENSG00000066651	Chromatin interaction
ENSG00000093144	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1073931	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1073932	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10872312	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13218061	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1543432	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1964130	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057223	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144742	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144743	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180341	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281491	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2326567	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875972	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3756996	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798850	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3798852	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798857	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280986	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4448121	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4472373	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4486042	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4895821	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895822	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4895823	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897207	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569478	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569479	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569480	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569482	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569483	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569486	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67371475	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6900074	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6903878	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904520	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904630	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6904834	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6906717	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909703	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6910763	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913350	0.89[EUR][1000 genomes]
rs6913424	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6916990	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6930849	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937287	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7449576	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7739679	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7742161	0.89[EUR][1000 genomes]
rs7745944	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7751865	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7752238	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7753913	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7756336	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7756880	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7756884	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7760652	0.89[EUR][1000 genomes]
rs7760748	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7766942	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7771923	0.87[EUR][1000 genomes]
rs7773484	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7774468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7775493	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776136	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs877102	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs877661	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910720	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285459	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285460	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321073	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321074	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321076	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321079	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9372860	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375492	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375495	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9375499	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375501	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9375503	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9385419	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9388554	0.89[EUR][1000 genomes]
rs9388555	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9388561	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388568	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9388571	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9398836	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9398837	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398838	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398839	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9398840	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9398841	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9398842	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9401950	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401951	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401952	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9401953	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6569477	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127586400-127590200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:127586800-127589800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:127586800-127590000	Active TSS	K562	blood
4	chr6:127586800-127590200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:127587000-127589600	Active TSS	Fetal Thymus	thymus
6	chr6:127587000-127589600	Active TSS	HMEC	breast
7	chr6:127587000-127589800	Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:127587000-127590400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:127587000-127590400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:127587000-127590400	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:127587000-127590400	Active TSS	GM12878-XiMat	blood
12	chr6:127587000-127590600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:127587000-127590600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:127587000-127590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:127587000-127590800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:127587000-127590800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:127587000-127590800	Active TSS	NHDF-Ad	bronchial
18	chr6:127587000-127590800	Active TSS	NHLF	lung
19	chr6:127587000-127591400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:127587200-127589400	Active TSS	Fetal Intestine Large	intestine
21	chr6:127587200-127589400	Active TSS	Placenta Amnion	Placenta Amnion
22	chr6:127587200-127589400	Active TSS	Stomach Mucosa	stomach
23	chr6:127587200-127589400	Active TSS	NH-A	brain
24	chr6:127587200-127589600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:127587200-127589600	Active TSS	Colonic Mucosa	Colon
26	chr6:127587200-127589800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:127587200-127589800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:127587200-127589800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:127587200-127589800	Active TSS	Fetal Stomach	stomach
30	chr6:127587200-127589800	Active TSS	Hela-S3	cervix
31	chr6:127587200-127589800	Active TSS	HSMM	muscle
32	chr6:127587200-127590000	Active TSS	Fetal Kidney	kidney
33	chr6:127587200-127590000	Active TSS	Fetal Muscle Leg	muscle
34	chr6:127587200-127590200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:127587200-127590200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:127587200-127590200	Active TSS	Fetal Brain Female	brain
37	chr6:127587200-127590200	Active TSS	A549	lung
38	chr6:127587200-127590400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:127587200-127590600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:127587200-127590600	Active TSS	Brain Hippocampus Middle	brain
41	chr6:127587200-127590600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:127587200-127590600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:127587200-127590800	Active TSS	HSMMtube	muscle
44	chr6:127587200-127591000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:127587400-127589400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:127587400-127589400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:127587400-127589400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr6:127587400-127589400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:127587400-127589400	Active TSS	Left Ventricle	heart
50	chr6:127587400-127589400	Active TSS	Monocytes-CD14+_RO01746	blood

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