Variant report

Variant	rs9388561
Chromosome Location	chr6:127634921-127634922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127632489..127635205-chr6:127663712..127665685,2	MCF-7	breast:
2	chr6:127621289..127623398-chr6:127633908..127636784,2	K562	blood:
3	chr6:127633908..127636963-chr6:127637299..127640065,3	K562	blood:
4	chr6:127633009..127636327-chr6:127662306..127665318,3	K562	blood:

Variant related genes	Relation type
ENSG00000093144	Chromatin interaction
ENSG00000251768	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	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1073932	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10872312	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13218061	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543432	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1964130	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038378	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2057223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2180341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281491	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2875972	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3756996	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3798850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3798852	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798857	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280986	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4448121	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4472373	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4486042	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4895821	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4895822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895823	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569477	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569480	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569483	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569486	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67371475	0.86[EUR][1000 genomes]
rs6900074	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6903878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6904520	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6904630	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904834	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6906717	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6909703	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6910763	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6913350	0.86[EUR][1000 genomes]
rs6913424	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916990	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6930849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6937287	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7449576	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7739679	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742161	0.86[EUR][1000 genomes]
rs7745944	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7751865	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7752238	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7753913	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7756336	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756880	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756884	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7760652	0.86[EUR][1000 genomes]
rs7760748	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766942	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7771923	0.91[EUR][1000 genomes]
rs7773484	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7774468	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877102	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs877661	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs910720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285459	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321076	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321079	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9372860	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375492	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375495	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9375499	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375501	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9375503	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388553	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9388554	0.86[EUR][1000 genomes]
rs9388555	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9388568	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388571	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398836	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9398837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398839	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9398840	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9398841	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398842	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401950	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401951	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9401952	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401953	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9388561	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127605000-127660800	Weak transcription	Hela-S3	cervix
2	chr6:127608800-127635200	Weak transcription	K562	blood
3	chr6:127608800-127646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:127608800-127646800	Weak transcription	Lung	lung
5	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
6	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
8	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:127608800-127663600	Weak transcription	Gastric	stomach
12	chr6:127609000-127646200	Weak transcription	Psoas Muscle	Psoas
13	chr6:127611400-127645600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:127612200-127637600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:127613000-127635200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:127613000-127640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
18	chr6:127613400-127636200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:127613400-127646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:127616600-127645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:127618800-127647200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:127620400-127647000	Weak transcription	Left Ventricle	heart
24	chr6:127621800-127646400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
26	chr6:127622000-127645200	Weak transcription	HMEC	breast
27	chr6:127622000-127645600	Weak transcription	HSMMtube	muscle
28	chr6:127622000-127646800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:127622000-127646800	Weak transcription	Aorta	Aorta
30	chr6:127622000-127649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:127622000-127661400	Weak transcription	NHEK	skin
33	chr6:127622400-127635200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
36	chr6:127623000-127649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:127624000-127646400	Weak transcription	HUVEC	blood vessel
38	chr6:127624600-127635000	Strong transcription	Primary B cells from cord blood	blood
39	chr6:127625600-127646000	Weak transcription	Thymus	Thymus
40	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:127626000-127646000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:127627400-127639200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:127627800-127645800	Weak transcription	Brain Germinal Matrix	brain
45	chr6:127627800-127646800	Weak transcription	Fetal Intestine Small	intestine
46	chr6:127628000-127653000	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:127629400-127644800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:127629800-127661200	Weak transcription	A549	lung
49	chr6:127630000-127637600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:127630000-127638800	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links