Variant report

Variant	rs73239703
Chromosome Location	chr21:46290002-46290003
allele	A/T
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	RAD21	chr21:46289844-46290169	HepG2	liver:	n/a	n/a
2	MXI1	chr21:46289734-46291173	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr21:46289746-46291064	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr21:46289724-46290098	HepG2	liver:	n/a	n/a
5	STAT3	chr21:46289180-46291193	MCF10A-Er-Src	breast:	n/a	chr21:46290471-46290480
6	SPI1	chr21:46289844-46290108	K562	blood:	n/a	chr21:46289988-46290001 chr21:46289986-46289993
7	TBL1XR1	chr21:46289837-46290234	K562	blood:	n/a	n/a
8	TCF12	chr21:46289517-46290941	SK-N-SH	brain:	n/a	n/a
9	YY1	chr21:46289833-46290057	K562	blood:	n/a	n/a
10	HNF4G	chr21:46289834-46290124	HepG2	liver:	n/a	n/a
11	MYC	chr21:46289839-46290161	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr21:46289699-46290244	HUVEC	blood vessel:	n/a	n/a
13	TAF1	chr21:46289801-46290070	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr21:46289657-46290830	SK-N-SH	brain:	n/a	n/a
15	EP300	chr21:46289729-46290150	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr21:46289749-46290051	IMR90	lung:	n/a	n/a
17	FOS	chr21:46289776-46290153	Hela-S3	cervix:	n/a	chr21:46289963-46289974
18	POLR2A	chr21:46289918-46290190	Hela-S3	cervix:	n/a	n/a
19	MAX	chr21:46289719-46290234	A549	lung:	n/a	n/a
20	POLR2A	chr21:46289628-46290604	SK-N-SH	brain:	n/a	n/a
21	JUND	chr21:46289526-46290191	SK-N-SH	brain:	n/a	chr21:46289927-46289938 chr21:46289963-46289974
22	JUND	chr21:46289632-46290851	SK-N-SH	brain:	n/a	chr21:46289927-46289938 chr21:46289963-46289974
23	TEAD4	chr21:46289741-46290136	K562	blood:	n/a	n/a
24	REST	chr21:46289888-46290116	K562	blood:	n/a	n/a
25	FOS	chr21:46289768-46290559	MCF10A-Er-Src	breast:	n/a	chr21:46289963-46289974
26	MAX	chr21:46289808-46290220	A549	lung:	n/a	n/a
27	JUND	chr21:46289591-46290935	K562	blood:	n/a	chr21:46289927-46289938 chr21:46289963-46289974
28	MYC	chr21:46289809-46290146	K562	blood:	n/a	n/a
29	FOSL2	chr21:46289675-46290589	HepG2	liver:	n/a	n/a
30	TCF12	chr21:46289646-46290888	SK-N-SH	brain:	n/a	n/a
31	SMC3	chr21:46289702-46290111	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr21:46289798-46290093	K562	blood:	n/a	n/a
33	STAT3	chr21:46289000-46290171	MCF10A-Er-Src	breast:	n/a	n/a
34	SIN3AK20	chr21:46289685-46290133	SK-N-SH	brain:	n/a	n/a
35	NFATC1	chr21:46289767-46290145	GM12878	blood:	n/a	n/a
36	JUND	chr21:46289743-46290866	Hela-S3	cervix:	n/a	chr21:46289927-46289938 chr21:46289963-46289974
37	MXI1	chr21:46289796-46290099	HepG2	liver:	n/a	n/a
38	NR3C1	chr21:46289820-46290122	A549	lung:	n/a	chr21:46290034-46290060 chr21:46290034-46290060 chr21:46290040-46290047 chr21:46290038-46290056
39	HNF4A	chr21:46289826-46290098	HepG2	liver:	n/a	n/a
40	SMC3	chr21:46289695-46290099	HepG2	liver:	n/a	n/a
41	MAX	chr21:46289823-46290099	HepG2	liver:	n/a	n/a
42	FOS	chr21:46289335-46291149	MCF10A-Er-Src	breast:	n/a	chr21:46289963-46289974
43	EP300	chr21:46289720-46290247	HepG2	liver:	n/a	n/a
44	MAFK	chr21:46289680-46290099	K562	blood:	n/a	n/a
45	ZBTB33	chr21:46289806-46290104	A549	lung:	n/a	n/a
46	HNF4A	chr21:46289831-46290150	HepG2	liver:	n/a	n/a
47	SP1	chr21:46289680-46290314	A549	lung:	n/a	n/a
48	HDAC2	chr21:46289841-46290160	HepG2	liver:	n/a	n/a
49	HA-E2F1	chr21:46289689-46290478	MCF-7	breast:	n/a	n/a
50	POLR2A	chr21:46289688-46290117	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:45929656..45931471-chr21:46289835..46291954,2	MCF-7	breast:
3	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
4	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
5	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
6	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
7	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
8	chr21:46289444..46291829-chr21:46493246..46495939,2	MCF-7	breast:
9	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
10	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
11	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
12	chr21:46289780..46292382-chr21:46492719..46495344,2	MCF-7	breast:
13	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13050333	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050968	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13053009	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2117340	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2117341	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34940823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207173	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35871743	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810586	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66467973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67786546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7279563	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238097	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73239703	PTTG1IP	cis	Artery Aorta	GTEx
rs73239703	PTTG1IP	cis	Heart Left Ventricle	GTEx
rs73239703	PTTG1IP	cis	Artery Tibial	GTEx
rs73239703	PTTG1IP	cis	Thyroid	GTEx
rs73239703	PTTG1IP	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:46285000-46291600	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:46285000-46291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46285200-46290800	Enhancers	Right Atrium	heart
5	chr21:46285200-46291600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:46285400-46291600	Enhancers	Left Ventricle	heart
7	chr21:46285600-46291600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:46285600-46291800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46285600-46292200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:46286000-46290600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr21:46286000-46290800	Enhancers	Brain Hippocampus Middle	brain
12	chr21:46286000-46291200	Enhancers	Stomach Mucosa	stomach
13	chr21:46286000-46291600	Enhancers	Liver	Liver
14	chr21:46286200-46290600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr21:46286600-46290400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:46287000-46290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr21:46287200-46291600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr21:46287400-46291600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr21:46287400-46291800	Enhancers	Pancreas	Pancrea
20	chr21:46287600-46290800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:46287600-46290800	Enhancers	Fetal Heart	heart
22	chr21:46287600-46291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:46287600-46291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:46287600-46291800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:46287800-46290400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr21:46287800-46290600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:46287800-46290600	Weak transcription	Fetal Lung	lung
28	chr21:46287800-46290600	Enhancers	HMEC	breast
29	chr21:46287800-46290800	Enhancers	Adipose Nuclei	Adipose
30	chr21:46287800-46290800	Enhancers	Duodenum Mucosa	Duodenum
31	chr21:46287800-46290800	Enhancers	NHLF	lung
32	chr21:46287800-46291000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:46287800-46291200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr21:46287800-46291600	Enhancers	Lung	lung
35	chr21:46287800-46291800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:46288000-46290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:46288200-46290200	Enhancers	Gastric	stomach
38	chr21:46288200-46290800	Enhancers	Dnd41	blood
39	chr21:46288200-46291000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr21:46288200-46291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:46288200-46292200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr21:46288400-46290600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:46288400-46290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:46288400-46290800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr21:46288400-46291600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:46288400-46291600	Enhancers	Fetal Muscle Leg	muscle
47	chr21:46288600-46290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:46288600-46290600	Enhancers	Primary T cells from cord blood	blood
49	chr21:46288600-46290600	Weak transcription	Brain Germinal Matrix	brain
50	chr21:46288600-46291000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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