Variant report

Variant	rs2038378
Chromosome Location	chr6:127590400-127590401
allele	C/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	chr6:127589767..127592287-chr6:127596976..127599452,2	MCF-7	breast:
3	chr6:127586417..127590637-chr6:127662350..127666578,4	K562	blood:
4	chr6:127586426..127589288-chr6:127589438..127591818,3	MCF-7	breast:
5	chr6:127508094..127510300-chr6:127588248..127590537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118518	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]
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]
rs6569477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs2038378	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127587000-127590400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:127587000-127590400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:127587000-127590400	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:127587000-127590400	Active TSS	GM12878-XiMat	blood
5	chr6:127587000-127590600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:127587000-127590600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:127587000-127590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:127587000-127590800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:127587000-127590800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:127587000-127590800	Active TSS	NHDF-Ad	bronchial
11	chr6:127587000-127590800	Active TSS	NHLF	lung
12	chr6:127587000-127591400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:127587200-127590400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:127587200-127590600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:127587200-127590600	Active TSS	Brain Hippocampus Middle	brain
16	chr6:127587200-127590600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:127587200-127590600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:127587200-127590800	Active TSS	HSMMtube	muscle
19	chr6:127587200-127591000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:127587400-127590800	Active TSS	Aorta	Aorta
21	chr6:127587400-127590800	Active TSS	Brain Angular Gyrus	brain
22	chr6:127587400-127590800	Active TSS	Psoas Muscle	Psoas
23	chr6:127587400-127590800	Active TSS	Right Ventricle	heart
24	chr6:127587400-127590800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:127587600-127590600	Active TSS	Ovary	ovary
26	chr6:127588200-127591000	Active TSS	Fetal Brain Male	brain
27	chr6:127588400-127590800	Active TSS	Right Atrium	heart
28	chr6:127588600-127590800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:127588600-127590800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:127588800-127590400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:127589000-127590400	Flanking Active TSS	Liver	Liver
32	chr6:127589000-127590400	Flanking Active TSS	Dnd41	blood
33	chr6:127589000-127595800	Weak transcription	Spleen	Spleen
34	chr6:127589200-127590400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr6:127589200-127590400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr6:127589200-127590600	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:127589200-127590600	Flanking Active TSS	HUVEC	blood vessel
38	chr6:127589200-127595800	Weak transcription	Pancreas	Pancrea
39	chr6:127589200-127602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:127589400-127590400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:127589400-127590600	Flanking Active TSS	NH-A	brain
42	chr6:127589400-127590800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:127589400-127590800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:127589400-127591000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:127589400-127591000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:127589400-127592000	Weak transcription	Left Ventricle	heart
47	chr6:127589400-127595800	Weak transcription	Lung	lung
48	chr6:127589400-127597000	Weak transcription	Stomach Mucosa	stomach
49	chr6:127589400-127601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:127589400-127607800	Weak transcription	Placenta Amnion	Placenta Amnion

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