Variant report

Variant	rs78428067
Chromosome Location	chr21:46493433-46493434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr21:46493133-46493499	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:46493407-46493909	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr21:46493263-46495236	K562	blood:	n/a	n/a
4	RCOR1	chr21:46493310-46494408	K562	blood:	n/a	n/a
5	MAX	chr21:46493074-46495782	MCF-7	breast:	n/a	n/a
6	ZC3H11A	chr21:46493426-46494398	K562	blood:	n/a	n/a
7	POLR2A	chr21:46493412-46494434	PBDE	blood:	n/a	n/a
8	FOXM1	chr21:46493177-46493910	MCF-7	breast:	n/a	n/a
9	HDAC2	chr21:46493137-46493874	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:46493084-46495667	K562	blood:	n/a	n/a
11	PML	chr21:46493184-46494595	MCF-7	breast:	n/a	n/a
12	BHLHE40	chr21:46493364-46494410	K562	blood:	n/a	chr21:46493432-46493448 chr21:46493397-46493413
13	POLR2A	chr21:46493408-46495654	K562	blood:	n/a	n/a
14	E2F6	chr21:46493363-46493520	K562	blood:	n/a	n/a
15	POLR2A	chr21:46492515-46494487	K562	blood:	n/a	n/a
16	POLR2A	chr21:46493379-46495527	K562	blood:	n/a	n/a
17	CBX3	chr21:46493338-46493884	K562	blood:	n/a	n/a
18	ARID3A	chr21:46493354-46493814	K562	blood:	n/a	n/a
19	POLR2A	chr21:46493378-46494744	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr21:46493353-46493780	T-47D	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
21	SIN3AK20	chr21:46493002-46494465	MCF-7	breast:	n/a	n/a
22	EGR1	chr21:46493226-46493566	K562	blood:	n/a	n/a
23	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
24	POLR2A	chr21:46493413-46495373	MCF-7	breast:	n/a	n/a
25	EP300	chr21:46493045-46493928	MCF-7	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
26	ESR1	chr21:46493357-46493614	T-47D	breast:	n/a	n/a
27	SRF	chr21:46492979-46493913	MCF-7	breast:	n/a	n/a
28	NR2F2	chr21:46493116-46494030	K562	blood:	n/a	n/a
29	ZMIZ1	chr21:46493388-46495303	K562	blood:	n/a	n/a
30	CEBPD	chr21:46493246-46495249	K562	blood:	n/a	n/a
31	NR2F2	chr21:46493207-46494467	K562	blood:	n/a	n/a
32	GATA3	chr21:46493314-46493784	T-47D	breast:	n/a	n/a
33	MYC	chr21:46493370-46495153	K562	blood:	n/a	n/a
34	CUX1	chr21:46493391-46493786	K562	blood:	n/a	n/a
35	MAZ	chr21:46492951-46495586	IMR90	lung:	n/a	n/a
36	POLR2A	chr21:46493064-46495631	K562	blood:	n/a	n/a
37	PML	chr21:46493235-46494595	MCF-7	breast:	n/a	n/a
38	HDAC2	chr21:46493286-46493545	K562	blood:	n/a	n/a
39	TEAD4	chr21:46493149-46493884	MCF-7	breast:	n/a	n/a
40	ZBTB7A	chr21:46493180-46493483	K562	blood:	n/a	n/a
41	MAFK	chr21:46493409-46494214	K562	blood:	n/a	n/a
42	GATA1	chr21:46493265-46493877	PBDE	blood:	n/a	n/a
43	CEBPB	chr21:46493230-46493845	MCF-7	breast:	n/a	n/a
44	NR2F2	chr21:46493008-46494466	MCF-7	breast:	n/a	n/a
45	PML	chr21:46493264-46494476	K562	blood:	n/a	n/a
46	POLR2A	chr21:46493266-46494767	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr21:46492950-46493884	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr21:46493353-46495580	K562	blood:	n/a	n/a
49	UBTF	chr21:46493360-46495761	K562	blood:	n/a	n/a
50	TBP	chr21:46493428-46494437	K562	blood:	n/a	n/a

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
2	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
3	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
4	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
5	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
6	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
7	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
8	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
9	chr21:46474279..46475026-chr21:46493041..46493703,3	MCF-7	breast:
10	chr21:46358120..46360078-chr21:46493208..46495098,2	MCF-7	breast:
11	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
12	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
13	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
14	chr21:46493349..46495379-chr3:49062380..49065165,2	K562	blood:
15	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
16	chr21:46493355..46495349-chr6:20402517..20405350,2	K562	blood:
17	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
18	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
19	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
20	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
21	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
22	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
23	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
24	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
25	chr21:46492557..46494672-chr5:76381901..76384633,2	MCF-7	breast:
26	chr21:46493305..46495041-chr21:46533530..46536007,3	K562	blood:
27	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
28	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
29	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
30	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
31	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
32	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
33	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
34	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
35	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
36	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
37	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268856	TF binding region
ADARB1	TF binding region
SSR4P1	TF binding region
ENSG00000224930	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000132846	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000250802	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000183250	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	esv3355416	chr21:46492024-46497122	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3409662	chr21:46492949-46495497	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	esv3342735	chr21:46493424-46495897	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
2	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46492400-46493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:46492600-46493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46492600-46493600	Flanking Active TSS	HSMM	muscle
7	chr21:46492800-46493600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr21:46492800-46493600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:46492800-46493600	Weak transcription	Gastric	stomach
10	chr21:46492800-46493600	Enhancers	Pancreas	Pancrea
11	chr21:46493000-46493600	Enhancers	Primary B cells from peripheral blood	blood
12	chr21:46493000-46493600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:46493000-46493600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:46493000-46493800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:46493200-46493600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46493200-46493600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr21:46493200-46493600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr21:46493200-46493600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:46493200-46493600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:46493200-46493600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr21:46493200-46493600	Enhancers	Esophagus	oesophagus
22	chr21:46493200-46493600	Enhancers	Fetal Intestine Small	intestine
23	chr21:46493200-46493600	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr21:46493200-46493600	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr21:46493200-46493600	Enhancers	Ovary	ovary
26	chr21:46493200-46493600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr21:46493200-46493600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr21:46493200-46493600	Enhancers	Spleen	Spleen
29	chr21:46493200-46493600	Flanking Active TSS	K562	blood
30	chr21:46493200-46493800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr21:46493200-46493800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:46493200-46493800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr21:46493200-46493800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:46493200-46493800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr21:46493200-46493800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:46493200-46493800	Flanking Active TSS	Colonic Mucosa	Colon
37	chr21:46493200-46493800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr21:46493200-46493800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr21:46493200-46493800	Flanking Active TSS	Hela-S3	cervix
40	chr21:46493200-46493800	Flanking Active TSS	Osteobl	bone
41	chr21:46493200-46495000	Active TSS	Right Ventricle	heart
42	chr21:46493200-46495400	Active TSS	Fetal Brain Female	brain
43	chr21:46493200-46495400	Active TSS	NHLF	lung
44	chr21:46493200-46495800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:46493400-46493600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:46493400-46493600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:46493400-46493600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr21:46493400-46493600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr21:46493400-46493600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr21:46493400-46493600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links