Variant report

Variant	rs17778417
Chromosome Location	chr11:34124535-34124536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:34124455-34128004	K562	blood:	n/a	n/a
2	POLR2A	chr11:34124137-34127718	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:34124535-34124948	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:34124407-34124930	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:34124039-34127882	K562	blood:	n/a	n/a
6	POLR2A	chr11:34123174-34128281	K562	blood:	n/a	n/a
7	POLR2A	chr11:34124110-34127755	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:34121383-34128525	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:34124530-34124670	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:34124455-34125092	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr11:34123979-34125168	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:34123612-34125055	K562	blood:	n/a	n/a
13	POLR2A	chr11:34124451-34125003	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:34123811-34127766	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:34123966-34128081	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:34123712-34128000	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:34124086-34124962	U87	brain:	n/a	n/a
18	POLR2A	chr11:34124070-34128032	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:34124509-34125044	HCT-116	colon:	n/a	n/a
20	POLR2A	chr11:34124281-34127805	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:34119916-34128220	K562	blood:	n/a	n/a
22	POLR2A	chr11:34123619-34125081	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:34124463-34125037	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:34124047-34125054	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:34123756-34128262	A549	lung:	n/a	n/a
26	POLR2A	chr11:34123354-34128182	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:34124392-34125105	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:34123323-34128328	K562	blood:	n/a	n/a
29	POLR2A	chr11:34124449-34125031	H1-hESC	embryonic stem cell:	n/a	n/a
30	PML	chr11:34124352-34125001	K562	blood:	n/a	n/a
31	NFATC1	chr11:34124347-34124982	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:34124102-34125241	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:34124370-34125295	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:34124385-34125022	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:34124245-34128401	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:34124425-34125049	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:34123974-34127888	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:34124019-34125189	K562	blood:	n/a	n/a
39	POLR2A	chr11:34124117-34127791	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:34124531-34124995	HCT-116	colon:	n/a	n/a
41	POLR2A	chr11:34124204-34128201	K562	blood:	n/a	n/a
42	POLR2A	chr11:34123570-34127955	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:34124247-34125055	Hela-S3	cervix:	n/a	n/a
44	PML	chr11:34124137-34125104	K562	blood:	n/a	n/a
45	POLR2A	chr11:34124439-34127968	HL-60	blood:	n/a	n/a
46	POLR2A	chr11:34123608-34128375	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr11:34124304-34127782	H1-hESC	embryonic stem cell:	n/a	n/a
48	PML	chr11:34124397-34125097	GM12878	blood:	n/a	n/a
49	CEBPB	chr11:34124288-34124800	K562	blood:	n/a	n/a
50	POLR2A	chr11:34124089-34124908	U87	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34122891..34125542-chr11:34164047..34165563,2	K562	blood:
2	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
3	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
4	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
5	chr11:34072144..34074696-chr11:34123170..34125169,2	MCF-7	breast:
6	chr11:34115146..34119310-chr11:34123587..34128957,8	K562	blood:
7	chr11:34123654..34124621-chr19:48837343..48837861,2	NB4	blood:
8	chr11:34106541..34110325-chr11:34122744..34126295,3	K562	blood:
9	chr11:34123093..34125521-chr11:34130481..34132154,2	MCF-7	breast:

No data

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

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10047428	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10047487	0.87[EUR][1000 genomes]
rs10501132	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10501133	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10836150	0.89[CEU][hapmap]
rs11552143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925114	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16925115	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16925117	0.87[YRI][hapmap]
rs16925121	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925126	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925134	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925147	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925153	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16925155	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925160	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925163	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925167	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925170	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925173	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925175	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925177	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925181	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925182	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925183	1.00[CEU][hapmap]
rs16925184	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925219	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16926099	0.86[EUR][1000 genomes]
rs17367679	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17699090	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17699505	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17699517	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17699883	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700132	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700360	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700714	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700877	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17701015	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17771981	0.86[EUR][1000 genomes]
rs17777885	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17777985	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17778759	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1883958	1.00[CEU][hapmap];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]
rs2421459	0.89[CEU][hapmap]
rs2467392	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2467393	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2473929	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2473932	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2957481	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957509	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957514	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2982587	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2982617	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2982619	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36117528	0.84[EUR][1000 genomes]
rs4074368	0.86[EUR][1000 genomes]
rs4237663	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4587708	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4755357	0.84[EUR][1000 genomes]
rs4755359	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4756101	0.82[EUR][1000 genomes]
rs4756109	0.91[CEU][hapmap]
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	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7122992	0.81[CEU][hapmap]
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]
rs73501059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7925527	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933297	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7944654	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7951527	1.00[CEU][hapmap]
rs8191	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs958332	0.91[CEU][hapmap];0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17778417	NAT10	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34079000-34126600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34083400-34126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34083600-34124800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34088600-34124600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:34091800-34124600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:34091800-34124800	Strong transcription	Fetal Intestine Large	intestine
7	chr11:34092600-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:34092600-34125000	Strong transcription	Liver	Liver
9	chr11:34093600-34125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:34097200-34126200	Weak transcription	Stomach Mucosa	stomach
11	chr11:34098000-34124600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:34098000-34125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:34098000-34125000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:34098200-34124800	Strong transcription	HUVEC	blood vessel
15	chr11:34098200-34125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:34104000-34124600	Strong transcription	K562	blood
17	chr11:34104000-34125600	Strong transcription	NH-A	brain
18	chr11:34105600-34124600	Strong transcription	Adipose Nuclei	Adipose
19	chr11:34107400-34125000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:34108000-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:34108800-34125000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:34109800-34124600	Strong transcription	HSMMtube	muscle
23	chr11:34110600-34125000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:34111000-34125000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:34111000-34125400	Strong transcription	HSMM	muscle
26	chr11:34111200-34126600	Weak transcription	Small Intestine	intestine
27	chr11:34112600-34126400	Weak transcription	Right Atrium	heart
28	chr11:34116600-34126400	Weak transcription	Aorta	Aorta
29	chr11:34116800-34126200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:34116800-34126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:34117200-34126400	Weak transcription	Fetal Stomach	stomach
32	chr11:34117400-34124800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:34118400-34126200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:34119000-34126200	Weak transcription	Fetal Brain Male	brain
35	chr11:34119400-34126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:34119800-34124800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:34120800-34125400	Weak transcription	Psoas Muscle	Psoas
38	chr11:34120800-34126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:34120800-34126400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:34120800-34126400	Weak transcription	Right Ventricle	heart
41	chr11:34120800-34126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:34120800-34126600	Weak transcription	Pancreas	Pancrea
43	chr11:34121000-34126400	Weak transcription	Esophagus	oesophagus
44	chr11:34121000-34126600	Weak transcription	Gastric	stomach
45	chr11:34121200-34126600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:34121600-34125600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:34121600-34126400	Weak transcription	Spleen	Spleen
48	chr11:34121600-34126600	Weak transcription	Lung	lung
49	chr11:34122000-34125400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:34122000-34125600	Weak transcription	Thymus	Thymus

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