Variant report

Variant	rs73979063
Chromosome Location	chr17:16981774-16981775
allele	C/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	ZNF217	chr17:16981658-16982226	MCF-7	breast:	n/a	n/a
2	ELF1	chr17:16981615-16982266	MCF-7	breast:	n/a	n/a
3	ATF3	chr17:16981575-16981832	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:16981440-16981992	HepG2	liver:	n/a	n/a
5	MAFK	chr17:16981594-16982027	HepG2	liver:	n/a	n/a
6	MAFK	chr17:16981658-16981926	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:16981524-16981940	HepG2	liver:	n/a	n/a
8	NR2F2	chr17:16981494-16982376	MCF-7	breast:	n/a	n/a
9	HNF4A	chr17:16981429-16982029	HepG2	liver:	n/a	chr17:16981690-16981708 chr17:16981880-16981895 chr17:16981693-16981705 chr17:16981692-16981707 chr17:16981692-16981707 chr17:16981691-16981706 chr17:16981693-16981705 chr17:16981693-16981706 chr17:16981692-16981707
10	NR2F2	chr17:16981475-16982558	MCF-7	breast:	n/a	chr17:16982431-16982446
11	HEY1	chr17:16981408-16982038	HepG2	liver:	n/a	chr17:16981862-16981871
12	SIN3AK20	chr17:16981430-16982459	MCF-7	breast:	n/a	n/a
13	MAFF	chr17:16981657-16981903	HepG2	liver:	n/a	n/a
14	GATA3	chr17:16981438-16982421	MCF-7	breast:	n/a	chr17:16982058-16982066 chr17:16981861-16981868
15	POLR2A	chr17:16981500-16981913	HepG2	liver:	n/a	n/a
16	RAD21	chr17:16981658-16982045	HepG2	liver:	n/a	chr17:16981740-16981754
17	HDAC2	chr17:16981514-16982016	HepG2	liver:	n/a	n/a
18	HNF4A	chr17:16981463-16981892	HepG2	liver:	n/a	chr17:16981690-16981708 chr17:16981693-16981705 chr17:16981692-16981707 chr17:16981692-16981707 chr17:16981691-16981706 chr17:16981693-16981705 chr17:16981693-16981706 chr17:16981692-16981707
19	MYC	chr17:16981694-16981838	MCF-7	breast:	n/a	chr17:16981735-16981744 chr17:16981706-16981721
20	MAX	chr17:16981425-16982112	MCF-7	breast:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
21	HNF4G	chr17:16981476-16981908	HepG2	liver:	n/a	chr17:16981690-16981708 chr17:16981880-16981895 chr17:16981693-16981705 chr17:16981692-16981707 chr17:16981692-16981707 chr17:16981693-16981705 chr17:16981690-16981705 chr17:16981693-16981706 chr17:16981692-16981707
22	SIN3AK20	chr17:16981605-16981908	HepG2	liver:	n/a	n/a
23	MYC	chr17:16981667-16981963	MCF-7	breast:	n/a	chr17:16981735-16981744 chr17:16981706-16981721
24	HDAC2	chr17:16981675-16982214	MCF-7	breast:	n/a	n/a
25	TCF7L2	chr17:16981771-16982057	MCF-7	breast:	n/a	n/a
26	MYBL2	chr17:16981373-16981991	HepG2	liver:	n/a	n/a
27	MYC	chr17:16981623-16981985	MCF-7	breast:	n/a	chr17:16981735-16981744 chr17:16981706-16981721
28	MYC	chr17:16981465-16982009	HepG2	liver:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
29	GATA3	chr17:16981597-16982275	MCF-7	breast:	n/a	chr17:16982058-16982066 chr17:16981861-16981868
30	POLR2A	chr17:16981417-16981957	HepG2	liver:	n/a	n/a
31	GATA3	chr17:16981721-16982066	MCF-7	breast:	n/a	chr17:16982058-16982066 chr17:16981861-16981868
32	MAX	chr17:16981335-16981967	HepG2	liver:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
33	RCOR1	chr17:16981617-16981994	HepG2	liver:	n/a	n/a
34	MAX	chr17:16981195-16982119	HepG2	liver:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
35	MYBL2	chr17:16981369-16982078	HepG2	liver:	n/a	n/a
36	ELF1	chr17:16981666-16982209	MCF-7	breast:	n/a	n/a
37	HEY1	chr17:16981496-16981875	HepG2	liver:	n/a	chr17:16981862-16981871
38	SP1	chr17:16981455-16982035	HepG2	liver:	n/a	chr17:16981732-16981742
39	HDAC2	chr17:16981537-16982260	MCF-7	breast:	n/a	n/a
40	NFIC	chr17:16981491-16981937	HepG2	liver:	n/a	n/a
41	HNF4A	chr17:16981548-16981981	HepG2	liver:	n/a	chr17:16981690-16981708 chr17:16981880-16981895 chr17:16981693-16981705 chr17:16981692-16981707 chr17:16981692-16981707 chr17:16981691-16981706 chr17:16981693-16981705 chr17:16981693-16981706 chr17:16981692-16981707
42	CEBPB	chr17:16981665-16982014	HepG2	liver:	n/a	n/a
43	USF1	chr17:16981524-16981889	HepG2	liver:	n/a	chr17:16981706-16981717
44	ZNF263	chr17:16981385-16981865	HEK293-T-REx	kidney:	n/a	chr17:16981621-16981630
45	MAX	chr17:16981239-16982177	HepG2	liver:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
46	MAX	chr17:16981193-16982203	MCF-7	breast:	n/a	chr17:16981481-16981491 chr17:16981735-16981744 chr17:16981706-16981721
47	USF2	chr17:16981519-16981941	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr17:16981446-16982410	MCF-7	breast:	n/a	n/a
49	MXI1	chr17:16981471-16982058	HepG2	liver:	n/a	n/a
50	RAD21	chr17:16981702-16982358	MCF-7	breast:	n/a	chr17:16981740-16981754

No.	Distal block	Cell Line	Cell type
1	chr17:16944416..16947050-chr17:16979219..16983384,3	MCF-7	breast:
2	chr17:16981643..16982315-chr17:16990804..16991337,2	MCF-7	breast:
3	chr17:16978185..16979772-chr17:16981297..16982977,2	MCF-7	breast:
4	chr17:16981443..16982333-chr17:16990519..16991472,3	MCF-7	breast:
5	chr17:16920470..16922796-chr17:16981423..16984163,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP-AS1	TF binding region
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10048152	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1131632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16961406	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829096	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4485421	1.00[EUR][1000 genomes]
rs55792503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56247606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56343767	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56912118	1.00[EUR][1000 genomes]
rs58169814	1.00[EUR][1000 genomes]
rs58377774	1.00[AFR][1000 genomes]
rs58442149	1.00[EUR][1000 genomes]
rs58690840	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58702370	1.00[EUR][1000 genomes]
rs60029796	1.00[EUR][1000 genomes]
rs60192272	1.00[EUR][1000 genomes]
rs60332371	1.00[EUR][1000 genomes]
rs60364428	1.00[EUR][1000 genomes]
rs60545734	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60697210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60890438	1.00[EUR][1000 genomes]
rs61024568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61218165	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61608940	1.00[EUR][1000 genomes]
rs7219836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223145	1.00[EUR][1000 genomes]
rs7223758	1.00[EUR][1000 genomes]
rs7225496	1.00[EUR][1000 genomes]
rs73979025	1.00[EUR][1000 genomes]
rs73979028	1.00[EUR][1000 genomes]
rs73979045	1.00[EUR][1000 genomes]
rs73979046	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979047	0.89[AFR][1000 genomes]
rs73979048	1.00[EUR][1000 genomes]
rs73979049	1.00[EUR][1000 genomes]
rs73979056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979057	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979079	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979085	0.84[AMR][1000 genomes]
rs73979088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979092	0.83[AFR][1000 genomes]
rs73979096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981903	1.00[EUR][1000 genomes]
rs73981904	1.00[EUR][1000 genomes]
rs8079021	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16952600-16996400	Weak transcription	Fetal Brain Male	brain
2	chr17:16959200-16982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16959600-16992000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:16973200-16985000	Genic enhancers	A549	lung
5	chr17:16973600-16997600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:16973800-16982200	Strong transcription	Fetal Brain Female	brain
7	chr17:16974000-16995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:16974200-16981800	Genic enhancers	Fetal Intestine Large	intestine
9	chr17:16974200-16985200	Enhancers	Brain Angular Gyrus	brain
10	chr17:16974400-16985200	Genic enhancers	Fetal Intestine Small	intestine
11	chr17:16975800-16984600	Strong transcription	Primary B cells from cord blood	blood
12	chr17:16977200-16991200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr17:16977400-16992400	Strong transcription	Hela-S3	cervix
14	chr17:16978200-16982600	Strong transcription	GM12878-XiMat	blood
15	chr17:16978600-16981800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:16978600-16984200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:16978600-16984600	Genic enhancers	Gastric	stomach
18	chr17:16978600-16991000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:16978800-16986400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr17:16978800-16996800	Strong transcription	Dnd41	blood
21	chr17:16979000-16982000	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr17:16979000-16983800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:16979000-16984800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:16979000-16988600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:16979000-16989000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:16979200-16982200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr17:16979200-16982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:16979200-16982600	Strong transcription	Brain Germinal Matrix	brain
29	chr17:16979200-16984000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:16979200-16991400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:16979400-16981800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:16979400-16981800	Genic enhancers	Left Ventricle	heart
33	chr17:16979400-16982000	Weak transcription	K562	blood
34	chr17:16979400-16982600	Strong transcription	Osteobl	bone
35	chr17:16979400-16982800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:16979400-16984200	Genic enhancers	Lung	lung
37	chr17:16979400-16990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:16979400-16991200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:16979400-16991400	Strong transcription	Primary T cells from cord blood	blood
40	chr17:16979600-16982800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:16979600-16985000	Genic enhancers	Rectal Mucosa Donor 29	rectum
42	chr17:16979600-16985000	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr17:16979600-16986000	Weak transcription	HUVEC	blood vessel
44	chr17:16979600-16989000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:16979600-16989400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr17:16979800-16982000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:16979800-16982200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:16979800-16982600	Strong transcription	Fetal Stomach	stomach
49	chr17:16979800-16983000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:16979800-16984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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