Variant report

Variant	rs12483101
Chromosome Location	chr21:45280717-45280718
allele	A/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	CBX3	chr21:45280658-45281068	K562	blood:	n/a	n/a
2	E2F6	chr21:45280535-45281132	K562	blood:	n/a	n/a
3	GATA2	chr21:45280601-45280940	K562	blood:	n/a	chr21:45280824-45280833 chr21:45280824-45280833 chr21:45280823-45280833
4	CHD2	chr21:45280554-45280965	K562	blood:	n/a	n/a
5	TBL1XR1	chr21:45280682-45280995	K562	blood:	n/a	n/a
6	ZNF143	chr21:45280346-45280908	K562	blood:	n/a	n/a
7	STAT5A	chr21:45280516-45281098	K562	blood:	n/a	n/a
8	POLR2A	chr21:45280610-45281049	K562	blood:	n/a	n/a
9	CEBPB	chr21:45280707-45280974	K562	blood:	n/a	n/a
10	JUND	chr21:45280471-45281034	K562	blood:	n/a	n/a
11	CEBPD	chr21:45280535-45281061	K562	blood:	n/a	n/a
12	EGR1	chr21:45280656-45281132	K562	blood:	n/a	n/a
13	MAX	chr21:45280391-45281222	K562	blood:	n/a	n/a
14	POLR2A	chr21:45280581-45280977	K562	blood:	n/a	n/a
15	NR2F2	chr21:45279220-45281101	K562	blood:	n/a	n/a
16	GATA2	chr21:45280602-45281018	K562	blood:	n/a	chr21:45280824-45280833 chr21:45280824-45280833 chr21:45280823-45280833
17	POLR2A	chr21:45280476-45281014	K562	blood:	n/a	n/a
18	MYC	chr21:45280280-45281082	K562	blood:	n/a	n/a
19	YY1	chr21:45280583-45280996	K562	blood:	n/a	n/a
20	YY1	chr21:45280681-45280995	K562	blood:	n/a	n/a
21	RCOR1	chr21:45280500-45281054	K562	blood:	n/a	n/a
22	USF1	chr21:45280668-45281116	K562	blood:	n/a	n/a
23	MYC	chr21:45280599-45281120	K562	blood:	n/a	n/a
24	RCOR1	chr21:45280378-45281121	K562	blood:	n/a	n/a
25	HMGN3	chr21:45280526-45280958	K562	blood:	n/a	chr21:45280825-45280832
26	GATA1	chr21:45278289-45281168	K562	blood:	n/a	chr21:45280824-45280833 chr21:45280824-45280833 chr21:45280823-45280833
27	E2F6	chr21:45280690-45281069	K562	blood:	n/a	n/a
28	TAF1	chr21:45280585-45280964	K562	blood:	n/a	n/a
29	ZBTB7A	chr21:45280620-45281052	K562	blood:	n/a	n/a
30	POLR2A	chr21:45280548-45280973	K562	blood:	n/a	n/a
31	MYC	chr21:45280626-45281133	K562	blood:	n/a	n/a
32	STAT5A	chr21:45280641-45281010	K562	blood:	n/a	n/a
33	CBX3	chr21:45280494-45281082	K562	blood:	n/a	n/a
34	REST	chr21:45280650-45280966	K562	blood:	n/a	chr21:45280918-45280927
35	TEAD4	chr21:45279695-45281134	K562	blood:	n/a	n/a
36	ZBTB7A	chr21:45280502-45280987	K562	blood:	n/a	n/a
37	GATA1	chr21:45280170-45281268	PBDE	blood:	n/a	chr21:45280824-45280833 chr21:45280824-45280833 chr21:45280823-45280833
38	HDAC2	chr21:45280620-45281024	K562	blood:	n/a	chr21:45280823-45280832
39	UBTF	chr21:45280507-45280950	K562	blood:	n/a	n/a
40	PML	chr21:45280617-45281067	K562	blood:	n/a	n/a
41	USF1	chr21:45280589-45281148	K562	blood:	n/a	n/a
42	IRF1	chr21:45280164-45281034	K562	blood:	n/a	chr21:45280355-45280368
43	REST	chr21:45280717-45280952	K562	blood:	n/a	chr21:45280918-45280927
44	MXI1	chr21:45280654-45280964	K562	blood:	n/a	n/a
45	HDAC2	chr21:45280431-45281014	K562	blood:	n/a	chr21:45280823-45280832
46	POLR2A	chr21:45280664-45280897	K562	blood:	n/a	n/a
47	CCNT2	chr21:45280579-45280956	K562	blood:	n/a	n/a
48	EP300	chr21:45280667-45280973	K562	blood:	n/a	n/a
49	POLR2A	chr21:45280432-45281140	K562	blood:	n/a	n/a
50	HCFC1	chr21:45280662-45280836	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45277545..45281812-chr21:45337639..45343236,6	K562	blood:
2	chr21:45280145..45280762-chr21:45359058..45359617,2	MCF-7	breast:
3	chr21:45249455..45252079-chr21:45279419..45281351,2	K562	blood:
4	chr21:45279182..45280924-chr21:45283571..45285160,2	MCF-7	breast:
5	chr21:45187250..45190053-chr21:45278541..45281497,2	K562	blood:
6	chr21:45278801..45280900-chr21:45336641..45338168,2	MCF-7	breast:
7	chr21:45227701..45229997-chr21:45280310..45283557,3	K562	blood:
8	chr21:45279531..45281837-chr21:45307494..45310179,2	K562	blood:
9	chr21:45279077..45280867-chr21:45358882..45361761,2	K562	blood:
10	chr21:45280312..45282784-chr21:45340621..45342718,2	K562	blood:

Variant related genes	Relation type
MYL6P1	TF binding region
AGPAT3	TF binding region
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11702314	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13046001	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13047961	0.89[ASN][1000 genomes]
rs13049717	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13050512	0.87[ASN][1000 genomes]
rs1573473	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014085	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329581	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8131889	0.85[ASN][1000 genomes]
rs9637176	0.86[ASN][1000 genomes]
rs9637232	0.89[ASN][1000 genomes]
rs9637233	0.87[ASN][1000 genomes]
rs9976744	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:45276200-45281200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr21:45276200-45281200	Weak transcription	GM12878-XiMat	blood
4	chr21:45276200-45281400	Weak transcription	Primary B cells from cord blood	blood
5	chr21:45278600-45281000	Enhancers	Fetal Intestine Small	intestine
6	chr21:45279200-45280800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:45279200-45280800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:45279200-45280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:45279200-45281200	Enhancers	Ovary	ovary
10	chr21:45279400-45284000	Weak transcription	Right Ventricle	heart
11	chr21:45279800-45281200	Enhancers	Colonic Mucosa	Colon
12	chr21:45280000-45280800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:45280000-45280800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr21:45280000-45281000	Enhancers	Fetal Intestine Large	intestine
15	chr21:45280000-45281200	Enhancers	Fetal Stomach	stomach
16	chr21:45280000-45281600	Enhancers	Placenta	Placenta
17	chr21:45280200-45280800	Enhancers	NHEK	skin
18	chr21:45280200-45281200	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr21:45280400-45280800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45280400-45280800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45280400-45280800	Enhancers	Brain Substantia Nigra	brain
22	chr21:45280400-45280800	Enhancers	Fetal Kidney	kidney
23	chr21:45280400-45280800	Flanking Active TSS	Pancreas	Pancrea
24	chr21:45280400-45280800	Flanking Active TSS	Hela-S3	cervix
25	chr21:45280400-45280800	Flanking Active TSS	NHLF	lung
26	chr21:45280400-45281000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:45280400-45281000	Enhancers	Esophagus	oesophagus
28	chr21:45280400-45281000	Enhancers	Fetal Muscle Leg	muscle
29	chr21:45280400-45281000	Enhancers	Gastric	stomach
30	chr21:45280400-45281200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr21:45280400-45282000	Enhancers	Duodenum Mucosa	Duodenum
32	chr21:45280400-45282000	Enhancers	Stomach Mucosa	stomach
33	chr21:45280400-45284000	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:45280600-45280800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:45280600-45280800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr21:45280600-45280800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:45280600-45280800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45280600-45280800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:45280600-45280800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr21:45280600-45280800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr21:45280600-45280800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr21:45280600-45280800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr21:45280600-45280800	Enhancers	Small Intestine	intestine
44	chr21:45280600-45280800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr21:45280600-45280800	Enhancers	HMEC	breast
46	chr21:45280600-45280800	Flanking Active TSS	K562	blood
47	chr21:45280600-45281000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr21:45280600-45281000	Enhancers	Spleen	Spleen
49	chr21:45280600-45281200	Enhancers	Psoas Muscle	Psoas
50	chr21:45280600-45281600	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links