Variant report

Variant	rs13218061
Chromosome Location	chr6:127653758-127653759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:127653533-127654205	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:127652626-127653804	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:127653223-127654091	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:127653309-127653876	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:127651713-127655829	K562	blood:	n/a	n/a
6	POLR2A	chr6:127653523-127653915	K562	blood:	n/a	n/a
7	JUND	chr6:127653758-127653947	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:127653631-127653865	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:127652338..127654824-chr6:127662832..127665222,5	MCF-7	breast:
2	chr6:127646597..127649451-chr6:127650225..127654504,3	MCF-7	breast:
3	chr6:127653275..127659045-chr6:127660567..127666525,9	MCF-7	breast:

Variant related genes	Relation type
ECHDC1	TF binding region
ENSG00000093144	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1073931	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1073932	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10872312	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1543432	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1964130	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038378	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2057223	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2180341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281491	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2875972	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3756996	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3798850	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3798852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3798857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280986	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4448121	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4472373	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4486042	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4895821	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4895822	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895823	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897207	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569477	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569478	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569480	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569482	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569486	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67371475	0.85[EUR][1000 genomes]
rs6900074	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6903878	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6904520	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6904630	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904834	0.85[EUR][1000 genomes]
rs6906717	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6909703	0.84[EUR][1000 genomes]
rs6910763	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6913350	0.85[EUR][1000 genomes]
rs6913424	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916990	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6930849	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6937287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7449576	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7453272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7739679	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742161	0.85[EUR][1000 genomes]
rs7745944	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7751865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7752238	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7753913	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7756336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7760652	0.85[EUR][1000 genomes]
rs7760748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766942	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7771923	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7773484	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7774468	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775493	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877102	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs877661	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs910720	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285459	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285460	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321073	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321074	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321079	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9372860	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375492	0.85[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375495	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9375499	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375501	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9375503	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385419	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388553	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9388554	0.85[EUR][1000 genomes]
rs9388555	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9388561	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388571	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9398836	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9398837	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398839	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9398840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9398841	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401951	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9401952	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13218061	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 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	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:127608800-127663600	Weak transcription	Gastric	stomach
6	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
7	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
9	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:127622000-127661400	Weak transcription	NHEK	skin
11	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
13	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:127629800-127661200	Weak transcription	A549	lung
16	chr6:127632400-127657600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:127634800-127661400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:127635000-127658000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:127635800-127659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:127641000-127654000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:127643400-127654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:127645400-127661400	Weak transcription	Right Ventricle	heart
23	chr6:127645800-127661000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:127646600-127660200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:127647400-127653800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:127647600-127654000	Weak transcription	Lung	lung
27	chr6:127647600-127654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:127647600-127660200	Weak transcription	HSMMtube	muscle
29	chr6:127647600-127661000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:127647600-127661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:127647600-127661400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:127647600-127661600	Weak transcription	Brain Germinal Matrix	brain
33	chr6:127647600-127661600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:127647600-127662600	Weak transcription	Brain Angular Gyrus	brain
35	chr6:127647600-127662800	Weak transcription	Fetal Stomach	stomach
36	chr6:127647600-127662800	Weak transcription	Thymus	Thymus
37	chr6:127647600-127663000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:127647800-127658800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:127647800-127660600	Weak transcription	Psoas Muscle	Psoas
40	chr6:127647800-127661000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:127647800-127661400	Weak transcription	Left Ventricle	heart
42	chr6:127647800-127661400	Weak transcription	Ovary	ovary
43	chr6:127648000-127663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:127648200-127654800	Weak transcription	GM12878-XiMat	blood
45	chr6:127648200-127659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:127648200-127659800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:127648200-127660000	Weak transcription	Fetal Brain Female	brain
48	chr6:127648200-127662000	Weak transcription	Brain Anterior Caudate	brain
49	chr6:127648400-127657800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:127648400-127658000	Weak transcription	Fetal Muscle Trunk	muscle

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