Variant report

Variant	rs57550246
Chromosome Location	chr21:46493157-46493158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

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	MAX	chr21:46493074-46495782	MCF-7	breast:	n/a	n/a
3	HDAC2	chr21:46493137-46493874	MCF-7	breast:	n/a	n/a
4	POLR2A	chr21:46493084-46495667	K562	blood:	n/a	n/a
5	POLR2A	chr21:46492515-46494487	K562	blood:	n/a	n/a
6	SIN3AK20	chr21:46493002-46494465	MCF-7	breast:	n/a	n/a
7	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
8	EP300	chr21:46493045-46493928	MCF-7	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
9	SRF	chr21:46492979-46493913	MCF-7	breast:	n/a	n/a
10	NR2F2	chr21:46493116-46494030	K562	blood:	n/a	n/a
11	MAZ	chr21:46492951-46495586	IMR90	lung:	n/a	n/a
12	POLR2A	chr21:46493064-46495631	K562	blood:	n/a	n/a
13	TEAD4	chr21:46493149-46493884	MCF-7	breast:	n/a	n/a
14	YY1	chr21:46492942-46493220	K562	blood:	n/a	n/a
15	NR2F2	chr21:46493008-46494466	MCF-7	breast:	n/a	n/a
16	POLR2A	chr21:46492950-46493884	SK-N-MC	brain:	n/a	n/a
17	GATA3	chr21:46492898-46494157	MCF-7	breast:	n/a	n/a
18	TCF12	chr21:46493036-46494004	MCF-7	breast:	n/a	chr21:46493554-46493563 chr21:46493384-46493391 chr21:46493359-46493366
19	TCF12	chr21:46492820-46494243	MCF-7	breast:	n/a	chr21:46493554-46493563 chr21:46493384-46493391 chr21:46493359-46493366
20	EGR1	chr21:46493058-46493705	MCF-7	breast:	n/a	n/a
21	HDAC2	chr21:46493044-46494503	MCF-7	breast:	n/a	n/a
22	POLR2A	chr21:46493133-46493160	HUVEC	blood vessel:	n/a	n/a
23	TEAD4	chr21:46492742-46493157	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
25	JUND	chr21:46493142-46494498	MCF-7	breast:	n/a	chr21:46494207-46494216
26	EP300	chr21:46493145-46493837	MCF-7	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
27	FOXM1	chr21:46493156-46493802	MCF-7	breast:	n/a	n/a
28	NR2F2	chr21:46493063-46493933	MCF-7	breast:	n/a	n/a
29	GATA3	chr21:46493027-46495588	MCF-7	breast:	n/a	n/a
30	CCNT2	chr21:46492880-46495557	K562	blood:	n/a	n/a
31	SIN3AK20	chr21:46492611-46494676	MCF-7	breast:	n/a	n/a
32	POLR2A	chr21:46492816-46495815	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46493156-46493206	NHDF-neo	bronchial:	n/a
2	chr21:46493156-46493206	PrEC	prostate:	n/a
3	chr21:46493156-46493206	AG09319	gingival:	n/a
4	chr21:46493156-46493206	NT2-D1	testis:	n/a
5	chr21:46493156-46493206	PFSK-1	brain:	n/a
6	chr21:46493156-46493206	GM12878	blood:	n/a
7	chr21:46493156-46493206	HAEpiC	amniotic membrane:	n/a
8	chr21:46493156-46493206	CMK	blood:	n/a
9	chr21:46493156-46493206	HCPEpiC	choroid plexus:	n/a
10	chr21:46493156-46493206	LNCaP	prostate:	n/a
11	chr21:46493156-46493206	BE2_C	brain:	n/a
12	chr21:46493156-46493206	ovcar-3	ovarian:	n/a
13	chr21:46493156-46493206	HCT-116	colon:	n/a
14	chr21:46493156-46493206	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:46493156-46493206	Jurkat	blood:	n/a
16	chr21:46493156-46493206	SK-N-MC	brain:	n/a
17	chr21:46493156-46493206	ProgFib	skin:	n/a
18	chr21:46493156-46493206	AG04449	skin:	fetal
19	chr21:46493156-46493206	BJ	skin:	n/a
20	chr21:46493156-46493206	K562	blood:	n/a
21	chr21:46493156-46493206	GM06990	blood:	n/a
22	chr21:46493156-46493206	AG04450	lung:	fetal
23	chr21:46493156-46493206	GM12891	blood:	n/a
24	chr21:46493156-46493206	HEK293	kidney:	embryo
25	chr21:46493156-46493206	A549	lung:	n/a
26	chr21:46493156-46493206	Hela-S3	cervix:	n/a
27	chr21:46493156-46493206	HRE	kidney:	n/a
28	chr21:46493156-46493206	HRCEpiC	kidney:	n/a
29	chr21:46493156-46493206	HNPCEpiC	eye:	n/a
30	chr21:46493156-46493206	NB4	blood:	n/a
31	chr21:46493156-46493206	HepG2	liver:	n/a
32	chr21:46493156-46493206	MCF10A-Er-Src	breast:	n/a
33	chr21:46493156-46493206	SAEC	small airway:	n/a
34	chr21:46493156-46493206	GM12892	blood:	n/a
35	chr21:46493156-46493206	RPTEC	kidney:	n/a
36	chr21:46493156-46493206	HCF	heart:	n/a
37	chr21:46493156-46493206	AG10803	skin:	n/a
38	chr21:46493156-46493206	AG09309	skin:	n/a
39	chr21:46493156-46493206	MCF-7	breast:	n/a
40	chr21:46493156-46493206	SK-N-SH_RA	brain:	n/a
41	chr21:46493156-46493206	HMEC	breast:	n/a
42	chr21:46493156-46493206	HL-60	blood:	n/a
43	chr21:46493156-46493206	HIPEpiC	eye:	n/a
44	chr21:46493156-46493206	NHBE	bronchial:	n/a
45	chr21:46493156-46493206	HEEpiC	esophagus:	n/a
46	chr21:46493156-46493206	HRPEpiC	eye:	n/a
47	chr21:46493156-46493206	SKMC	muscle:	n/a
48	chr21:46493156-46493206	Caco-2	colon:	n/a
49	chr21:46493156-46493206	U87	brain:	n/a
50	chr21:46493156-46493206	GM19239	blood:	n/a

(count:29 , 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	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
11	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
12	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
13	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
14	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
15	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
16	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
17	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
18	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
19	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
20	chr21:46492557..46494672-chr5:76381901..76384633,2	MCF-7	breast:
21	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
22	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
23	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
24	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
25	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
26	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
27	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
28	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
29	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11910177	1.00[AMR][1000 genomes]
rs11911762	1.00[AMR][1000 genomes]
rs17004718	1.00[AMR][1000 genomes]
rs28403458	0.82[AFR][1000 genomes]
rs35056606	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
6	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
7	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
8	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
10	chr21:46489600-46493400	Enhancers	HSMMtube	muscle
11	chr21:46489800-46493200	Weak transcription	Hela-S3	cervix
12	chr21:46489800-46493400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:46490200-46493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46490200-46493200	Weak transcription	Esophagus	oesophagus
15	chr21:46490200-46493400	Weak transcription	NH-A	brain
16	chr21:46490400-46493200	Weak transcription	HMEC	breast
17	chr21:46490400-46493200	Weak transcription	NHEK	skin
18	chr21:46490400-46493400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46490600-46493200	Weak transcription	Fetal Intestine Small	intestine
20	chr21:46491000-46493200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:46491000-46493400	Weak transcription	Brain Substantia Nigra	brain
22	chr21:46491200-46493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:46491600-46493200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:46492200-46493200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:46492200-46493400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr21:46492400-46493200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:46492400-46493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:46492600-46493400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46492600-46493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:46492600-46493400	Enhancers	Placenta	Placenta
32	chr21:46492600-46493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:46492600-46493600	Flanking Active TSS	HSMM	muscle
34	chr21:46492800-46493200	Active TSS	Stomach Smooth Muscle	stomach
35	chr21:46492800-46493200	Enhancers	K562	blood
36	chr21:46492800-46493400	Enhancers	Fetal Lung	lung
37	chr21:46492800-46493600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr21:46492800-46493600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:46492800-46493600	Weak transcription	Gastric	stomach
40	chr21:46492800-46493600	Enhancers	Pancreas	Pancrea
41	chr21:46493000-46493200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:46493000-46493200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:46493000-46493200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr21:46493000-46493200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46493000-46493200	Enhancers	Brain Germinal Matrix	brain
46	chr21:46493000-46493200	Enhancers	Colonic Mucosa	Colon
47	chr21:46493000-46493200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr21:46493000-46493400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:46493000-46493400	Enhancers	Primary B cells from cord blood	blood
50	chr21:46493000-46493400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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