Variant report

Variant	rs73501059
Chromosome Location	chr11:34128031-34128032
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	TBP	chr11:34126331-34128200	K562	blood:	n/a	n/a
2	POLR2A	chr11:34126048-34128116	PBDE	blood:	n/a	n/a
3	MYC	chr11:34126902-34128072	MCF10A-Er-Src	breast:	n/a	chr11:34127286-34127297 chr11:34127287-34127296 chr11:34127288-34127295 chr11:34127286-34127297
4	MXI1	chr11:34126668-34128061	K562	blood:	n/a	n/a
5	POLR2A	chr11:34125963-34128394	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:34123174-34128281	K562	blood:	n/a	n/a
7	POLR2A	chr11:34121383-34128525	HepG2	liver:	n/a	n/a
8	TRIM28	chr11:34125649-34128063	K562	blood:	n/a	chr11:34127259-34127267
9	POLR2A	chr11:34127892-34128103	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:34126311-34128343	MCF10A-Er-Src	breast:	n/a	n/a
11	WRNIP1	chr11:34126671-34128252	GM12878	blood:	n/a	n/a
12	UBTF	chr11:34126412-34128256	K562	blood:	n/a	n/a
13	RCOR1	chr11:34126373-34128086	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr11:34125273-34128459	Hela-S3	cervix:	n/a	n/a
15	GATA1	chr11:34126446-34128076	PBDE	blood:	n/a	chr11:34126727-34126740 chr11:34126990-34126998 chr11:34127249-34127256
16	RCOR1	chr11:34127953-34128079	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:34123966-34128081	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:34124070-34128032	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:34119916-34128220	K562	blood:	n/a	n/a
20	MXI1	chr11:34126284-34128576	IMR90	lung:	n/a	n/a
21	TEAD4	chr11:34126244-34128031	K562	blood:	n/a	chr11:34127741-34127750
22	POLR2A	chr11:34123756-34128262	A549	lung:	n/a	n/a
23	POLR2A	chr11:34123354-34128182	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:34123323-34128328	K562	blood:	n/a	n/a
25	SIN3A	chr11:34126246-34128359	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:34125128-34128056	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr11:34126853-34128564	MCF10A-Er-Src	breast:	n/a	chr11:34127286-34127297 chr11:34127287-34127296 chr11:34127288-34127295 chr11:34127286-34127297
28	POLR2A	chr11:34125042-34128360	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:34124245-34128401	PANC-1	pancreas:	n/a	n/a
30	REST	chr11:34126392-34128104	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr11:34125944-34128391	Hela-S3	cervix:	n/a	n/a
32	ZNF384	chr11:34126523-34128036	K562	blood:	n/a	n/a
33	JUN	chr11:34125505-34128333	K562	blood:	n/a	chr11:34127083-34127096 chr11:34126283-34126293
34	POLR2A	chr11:34126073-34128400	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:34124204-34128201	K562	blood:	n/a	n/a
36	POLR2A	chr11:34126006-34128085	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr11:34126027-34128656	IMR90	lung:	n/a	n/a
38	CEBPD	chr11:34126491-34128037	K562	blood:	n/a	n/a
39	POLR2A	chr11:34123608-34128375	SK-N-MC	brain:	n/a	n/a
40	HEY1	chr11:34126396-34128052	K562	blood:	n/a	n/a
41	MXI1	chr11:34125701-34128446	SK-N-SH	brain:	n/a	n/a
42	MYC	chr11:34126498-34128241	K562	blood:	n/a	chr11:34127286-34127297 chr11:34127287-34127296 chr11:34127288-34127295 chr11:34127286-34127297
43	POLR2A	chr11:34125424-34128416	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:
2	chr11:34126304..34129768-chr11:34376546..34381116,4	MCF-7	breast:
3	chr11:34112370..34115076-chr11:34127072..34129941,3	K562	blood:
4	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
5	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
6	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
7	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
8	chr11:34115146..34119310-chr11:34123587..34128957,8	K562	blood:
9	chr11:34112088..34115076-chr11:34127034..34129941,2	K562	blood:

Variant related genes	Relation type
NAT10	TF binding region
ENSG00000166016	Chromatin interaction
ENSG00000135387	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10047428	0.87[EUR][1000 genomes]
rs10047487	0.87[EUR][1000 genomes]
rs10501132	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10501133	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11552143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925114	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16925115	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16925121	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925126	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925134	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925147	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925153	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16925155	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925219	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16926099	0.86[EUR][1000 genomes]
rs17367679	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17699090	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17699505	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17699517	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17699883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700877	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17701015	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17771981	0.86[EUR][1000 genomes]
rs17777885	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17777985	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17778417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1883958	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004272	0.86[EUR][1000 genomes]
rs2421456	0.86[EUR][1000 genomes]
rs2421457	0.86[EUR][1000 genomes]
rs2467392	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2467393	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2473929	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2473932	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2957481	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957509	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957514	0.95[EUR][1000 genomes]
rs2982587	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2982617	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2982619	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36117528	0.84[EUR][1000 genomes]
rs4074368	0.86[EUR][1000 genomes]
rs4237663	0.87[EUR][1000 genomes]
rs4587708	0.87[EUR][1000 genomes]
rs4755357	0.84[EUR][1000 genomes]
rs4755359	0.87[EUR][1000 genomes]
rs4756101	0.82[EUR][1000 genomes]
rs56693007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56696374	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56973150	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57330513	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57492451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57636521	0.81[EUR][1000 genomes]
rs58755000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59158919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59249605	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59359577	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59518134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59650719	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59972955	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59978955	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60015864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60494596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60549862	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60700110	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61171154	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6484694	0.84[EUR][1000 genomes]
rs7104352	0.81[EUR][1000 genomes]
rs7127581	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73497030	0.84[EUR][1000 genomes]
rs73497035	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73497050	0.86[EUR][1000 genomes]
rs73497064	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73500434	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73501009	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73501017	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73501018	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73501023	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73501037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501038	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73501048	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73501064	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73501065	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73501069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501097	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7483997	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7925527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933297	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7944654	0.87[EUR][1000 genomes]
rs8191	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs958332	0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73501059	NAT10	cis	Stomach	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34125800-34128600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34125800-34128800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:34126000-34128200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:34126000-34128400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:34126000-34128400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:34126000-34128400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:34126000-34128600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:34126200-34128400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:34126200-34128400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:34126200-34128400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:34126200-34128400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:34126200-34128600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:34126200-34128600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:34126200-34128800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:34126400-34128200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:34126400-34128200	Active TSS	Fetal Muscle Trunk	muscle
17	chr11:34126400-34128200	Active TSS	Right Atrium	heart
18	chr11:34126400-34128400	Active TSS	Right Ventricle	heart
19	chr11:34126400-34128400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:34126400-34128800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:34126600-34128200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:34126600-34128200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:34126600-34128200	Active TSS	Lung	lung
24	chr11:34126600-34128200	Active TSS	Placenta Amnion	Placenta Amnion
25	chr11:34126600-34128400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:34126600-34128400	Active TSS	Fetal Intestine Small	intestine
27	chr11:34126600-34128400	Active TSS	Ovary	ovary
28	chr11:34126600-34128400	Active TSS	Psoas Muscle	Psoas
29	chr11:34126600-34128600	Active TSS	A549	lung
30	chr11:34126600-34128800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:34126800-34128200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:34126800-34128200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:34126800-34128200	Active TSS	NHEK	skin
34	chr11:34126800-34128400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:34126800-34128600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:34126800-34128600	Active TSS	NHDF-Ad	bronchial
37	chr11:34126800-34128800	Active TSS	HSMM	muscle
38	chr11:34126800-34128800	Active TSS	K562	blood
39	chr11:34127000-34128200	Active TSS	Hela-S3	cervix
40	chr11:34127000-34128200	Active TSS	HSMMtube	muscle
41	chr11:34127000-34128400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:34127000-34128600	Active TSS	GM12878-XiMat	blood
43	chr11:34127000-34128600	Active TSS	HMEC	breast
44	chr11:34127400-34128200	Flanking Active TSS	Liver	Liver
45	chr11:34127400-34128200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:34127400-34128400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:34127400-34128400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr11:34127400-34128400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:34127400-34128400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr11:34127400-34128400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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