Variant report

Variant	rs73906468
Chromosome Location	chr21:44583023-44583024
allele	A/C
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	CHD2	chr21:44581810-44583248	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr21:44582447-44583464	IMR90	lung:	n/a	chr21:44583339-44583350
3	JUN	chr21:44582475-44583219	HepG2	liver:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583032-44583039
4	GATA3	chr21:44582566-44583448	A549	lung:	n/a	chr21:44583030-44583039
5	STAT3	chr21:44582508-44583290	MCF10A-Er-Src	breast:	n/a	chr21:44583028-44583037 chr21:44583029-44583038
6	TCF12	chr21:44582768-44583371	HepG2	liver:	n/a	n/a
7	FOS	chr21:44582279-44583222	MCF10A-Er-Src	breast:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583027-44583038 chr21:44583032-44583039 chr21:44582284-44582298
8	MTA3	chr21:44582291-44583311	GM12878	blood:	n/a	n/a
9	RELA	chr21:44582559-44583180	GM19099	blood:	n/a	n/a
10	HNF4A	chr21:44582929-44583384	HepG2	liver:	n/a	n/a
11	SP1	chr21:44582649-44583445	HepG2	liver:	n/a	n/a
12	JUND	chr21:44582848-44583341	A549	lung:	n/a	chr21:44583029-44583037 chr21:44583027-44583038 chr21:44583029-44583036 chr21:44583032-44583039
13	TCF7L2	chr21:44582700-44583218	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr21:44582628-44583248	HepG2	liver:	n/a	n/a
15	RELA	chr21:44582249-44583131	GM18505	blood:	n/a	n/a
16	MAX	chr21:44582792-44583344	Hela-S3	cervix:	n/a	chr21:44583029-44583038 chr21:44583028-44583037
17	PAX5	chr21:44582350-44583161	GM12878	blood:	n/a	n/a
18	TCF12	chr21:44582516-44583235	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr21:44582840-44583275	PANC-1	pancreas:	n/a	n/a
20	HDAC2	chr21:44582674-44583416	HepG2	liver:	n/a	n/a
21	MAX	chr21:44582657-44583444	A549	lung:	n/a	chr21:44583029-44583038 chr21:44583028-44583037
22	GTF2F1	chr21:44581897-44583369	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr21:44582835-44583287	A549	lung:	n/a	n/a
24	MXI1	chr21:44582712-44583356	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr21:44582860-44583241	SK-N-SH	brain:	n/a	n/a
26	TBL1XR1	chr21:44582456-44583060	GM12878	blood:	n/a	n/a
27	NFIC	chr21:44582765-44583435	HepG2	liver:	n/a	n/a
28	MAX	chr21:44582537-44583243	GM12878	blood:	n/a	chr21:44583029-44583038 chr21:44583028-44583037
29	MYBL2	chr21:44582564-44583401	HepG2	liver:	n/a	n/a
30	NFIC	chr21:44582644-44583379	ECC-1	luminal epithelium:	n/a	n/a
31	RUNX3	chr21:44582275-44583191	GM12878	blood:	n/a	n/a
32	RFX5	chr21:44582908-44583499	HepG2	liver:	n/a	chr21:44583317-44583332
33	JUN	chr21:44582158-44583232	Hela-S3	cervix:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583032-44583039 chr21:44582284-44582298
34	TAF1	chr21:44582817-44583238	Hela-S3	cervix:	n/a	n/a
35	FOXA1	chr21:44582884-44583399	HepG2	liver:	n/a	n/a
36	SP1	chr21:44582630-44583341	A549	lung:	n/a	n/a
37	CHD2	chr21:44582517-44583046	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:44582798-44583352	HUVEC	blood vessel:	n/a	n/a
39	SMC3	chr21:44582421-44583025	GM12878	blood:	n/a	n/a
40	FOS	chr21:44582155-44583766	HUVEC	blood vessel:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583027-44583038 chr21:44583032-44583039 chr21:44582284-44582298
41	MAX	chr21:44582619-44583450	HepG2	liver:	n/a	chr21:44583029-44583038 chr21:44583028-44583037
42	MXI1	chr21:44582646-44583072	GM12878	blood:	n/a	n/a
43	TCF12	chr21:44581849-44583428	SK-N-SH	brain:	n/a	n/a
44	TEAD4	chr21:44582628-44583455	HepG2	liver:	n/a	n/a
45	FOS	chr21:44582270-44583286	MCF10A-Er-Src	breast:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583027-44583038 chr21:44583032-44583039 chr21:44582284-44582298
46	JUND	chr21:44582790-44583326	HepG2	liver:	n/a	chr21:44583029-44583037 chr21:44583027-44583038 chr21:44583029-44583036 chr21:44583032-44583039
47	FOXA1	chr21:44582810-44583447	HepG2	liver:	n/a	n/a
48	E2F4	chr21:44582887-44583087	MCF10A-Er-Src	breast:	n/a	n/a
49	MAZ	chr21:44582069-44583194	GM12878	blood:	n/a	chr21:44583029-44583038 chr21:44583028-44583037
50	FOXA1	chr21:44582852-44583433	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44580202..44583529-chr21:44588979..44591851,4	K562	blood:
2	chr21:44582998..44585767-chr21:45009273..45011214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228120	TF binding region
ENSG00000160202	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs28718858	1.00[EUR][1000 genomes]
rs4375967	0.90[AFR][1000 genomes]
rs4434083	0.82[AFR][1000 genomes]
rs59325549	1.00[EUR][1000 genomes]
rs73374272	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906487	1.00[EUR][1000 genomes]
rs73906488	1.00[EUR][1000 genomes]
rs73906489	1.00[EUR][1000 genomes]
rs73906491	1.00[EUR][1000 genomes]
rs73906494	1.00[EUR][1000 genomes]
rs73906499	1.00[EUR][1000 genomes]
rs73909413	1.00[EUR][1000 genomes]
rs9976127	1.00[EUR][1000 genomes]
rs9978735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
8	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44578000-44583200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:44578000-44583200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr21:44578000-44584000	Enhancers	Placenta	Placenta
5	chr21:44578200-44583200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:44578200-44583200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:44579000-44585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:44579200-44583600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:44579800-44586400	Enhancers	Fetal Muscle Leg	muscle
10	chr21:44580000-44583400	Enhancers	Duodenum Mucosa	Duodenum
11	chr21:44580200-44583200	Enhancers	Brain Hippocampus Middle	brain
12	chr21:44580200-44583200	Enhancers	Spleen	Spleen
13	chr21:44580200-44584200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:44580200-44585600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr21:44580400-44583200	Enhancers	Brain Substantia Nigra	brain
16	chr21:44580400-44583600	Flanking Active TSS	Hela-S3	cervix
17	chr21:44580400-44584000	Enhancers	Fetal Brain Male	brain
18	chr21:44580400-44584400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:44580400-44585200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:44580600-44584800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:44580600-44585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr21:44580800-44584600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:44581000-44585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:44581200-44583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:44581200-44583600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:44581200-44584200	Enhancers	HUVEC	blood vessel
27	chr21:44581400-44583200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:44581400-44583200	Enhancers	Brain Angular Gyrus	brain
29	chr21:44581600-44583200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:44581600-44583200	Enhancers	Brain Anterior Caudate	brain
31	chr21:44581600-44583200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:44581600-44583200	Enhancers	Esophagus	oesophagus
33	chr21:44581800-44583200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:44581800-44583200	Enhancers	Fetal Brain Female	brain
35	chr21:44581800-44583200	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:44581800-44583200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr21:44581800-44583200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr21:44581800-44583200	Enhancers	NHDF-Ad	bronchial
39	chr21:44581800-44583400	Enhancers	Fetal Lung	lung
40	chr21:44581800-44583600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:44581800-44584600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr21:44582000-44583200	Flanking Active TSS	NHEK	skin
43	chr21:44582000-44583400	Enhancers	Stomach Mucosa	stomach
44	chr21:44582000-44583600	Enhancers	Fetal Intestine Small	intestine
45	chr21:44582200-44583200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr21:44582200-44583200	Enhancers	Primary B cells from peripheral blood	blood
47	chr21:44582200-44583200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr21:44582200-44583200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr21:44582200-44583200	Flanking Active TSS	GM12878-XiMat	blood
50	chr21:44582200-44583400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links