Variant report

Variant	rs4818873
Chromosome Location	chr21:45368885-45368886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr21:45368674-45368890	K562	blood:	n/a	n/a
2	TEAD4	chr21:45368620-45368964	K562	blood:	n/a	n/a
3	POLR2A	chr21:45368582-45368914	K562	blood:	n/a	n/a
4	NR2F2	chr21:45368647-45368927	K562	blood:	n/a	n/a
5	EP300	chr21:45368711-45368933	K562	blood:	n/a	n/a
6	TEAD4	chr21:45368617-45369015	K562	blood:	n/a	n/a
7	TAL1	chr21:45368608-45369024	K562	blood:	n/a	n/a
8	POLR2A	chr21:45368671-45368895	K562	blood:	n/a	n/a
9	MAX	chr21:45368637-45368956	K562	blood:	n/a	n/a
10	SETDB1	chr21:45368868-45369529	U2OS	brain:	n/a	n/a
11	POLR2A	chr21:45368740-45368899	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45366021..45369525-chr21:45388691..45391384,4	K562	blood:
2	chr21:45366923..45369525-chr21:45389470..45391384,3	K562	blood:
3	chr21:45358391..45361361-chr21:45366953..45369647,2	MCF-7	breast:
4	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
5	chr21:45230726..45231265-chr21:45368758..45369723,2	K562	blood:
6	chr21:45365752..45369442-chr21:45370702..45375252,7	MCF-7	breast:
7	chr21:45368054..45369734-chr21:45376607..45378241,2	K562	blood:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2246604	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2838445	0.83[YRI][hapmap]
rs4818872	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs4819351	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819352	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283216	0.87[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	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	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
4	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
5	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4818873	PKNOX1	cis	cerebellum	SCAN
rs4818873	PDXK	cis	parietal	SCAN
rs4818873	CSTB	cis	lymphoblastoid	seeQTL
rs4818873	PCBP3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
5	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
6	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
7	chr21:45359200-45378800	Weak transcription	NHEK	skin
8	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr21:45359400-45369800	Weak transcription	Right Atrium	heart
10	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
11	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
12	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:45359600-45369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:45359600-45369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:45359800-45369200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr21:45359800-45376400	Weak transcription	NHLF	lung
18	chr21:45360800-45369000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:45360800-45371800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr21:45361000-45379200	Weak transcription	Ovary	ovary
21	chr21:45362000-45370400	Weak transcription	Fetal Brain Male	brain
22	chr21:45363600-45377000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:45364800-45378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45365000-45369200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr21:45365600-45370800	Strong transcription	Liver	Liver
26	chr21:45365800-45369400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr21:45366200-45369400	Weak transcription	Left Ventricle	heart
28	chr21:45366400-45369200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:45366600-45369600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr21:45366600-45370200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr21:45366600-45370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:45366600-45371000	Strong transcription	Fetal Intestine Large	intestine
33	chr21:45366800-45372200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:45367200-45376600	Weak transcription	Pancreas	Pancrea
35	chr21:45367200-45379200	Weak transcription	Fetal Brain Female	brain
36	chr21:45367600-45370400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:45367800-45369400	Enhancers	K562	blood
38	chr21:45367800-45369600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:45367800-45369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:45368000-45369000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr21:45368000-45369200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr21:45368000-45369400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:45368000-45369400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr21:45368000-45369400	Strong transcription	Colonic Mucosa	Colon
45	chr21:45368000-45369400	ZNF genes & repeats	Fetal Thymus	thymus
46	chr21:45368000-45369400	ZNF genes & repeats	HepG2	liver
47	chr21:45368000-45369600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr21:45368000-45369600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr21:45368000-45369600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr21:45368000-45369600	ZNF genes & repeats	Fetal Intestine Small	intestine

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