Variant report

Variant	rs4818925
Chromosome Location	chr21:45879266-45879267
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	MAX	chr21:45878990-45879284	NB4	blood:	n/a	chr21:45879232-45879241 chr21:45879104-45879123 chr21:45879109-45879119 chr21:45879107-45879120 chr21:45879108-45879119 chr21:45879108-45879119 chr21:45879109-45879118 chr21:45879107-45879120 chr21:45879108-45879119 chr21:45879107-45879122 chr21:45879108-45879118 chr21:45879230-45879243 chr21:45879109-45879119 chr21:45879109-45879118 chr21:45879109-45879118 chr21:45879231-45879242 chr21:45879110-45879119 chr21:45879108-45879118 chr21:45879107-45879120
2	POLR2A	chr21:45879045-45879456	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45874295..45876518-chr21:45877356..45879710,2	K562	blood:
2	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
3	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:

Variant related genes	Relation type
LRRC3-AS1	TF binding region
LRRC3DN	TF binding region
ENSG00000229356	Chromatin interaction
ENSG00000160233	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1007440	0.89[EUR][1000 genomes]
rs11088953	0.94[EUR][1000 genomes]
rs1573340	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984324	0.85[EUR][1000 genomes]
rs1984325	0.85[EUR][1000 genomes]
rs1984326	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003775	0.90[JPT][hapmap]
rs2010779	0.92[JPT][hapmap]
rs2011324	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2155726	0.87[EUR][1000 genomes]
rs2186932	1.00[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs2236672	0.87[EUR][1000 genomes]
rs2329780	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838561	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838562	0.87[EUR][1000 genomes]
rs2838567	0.82[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs34239371	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36011733	0.91[EUR][1000 genomes]
rs3804034	1.00[CEU][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs4818921	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818922	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6518188	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518189	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518192	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs749909	0.92[JPT][hapmap]
rs762430	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8128434	0.90[ASN][1000 genomes]
rs915781	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306101	0.87[EUR][1000 genomes]
rs9306103	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306104	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9975657	0.82[EUR][1000 genomes]
rs9978193	0.89[EUR][1000 genomes]
rs9978219	0.87[EUR][1000 genomes]
rs9979491	0.92[JPT][hapmap]
rs9981271	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9982752	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
17	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4818925	RRP1B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45876200-45881000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45876200-45881200	Weak transcription	Left Ventricle	heart
3	chr21:45876200-45883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:45876400-45879400	Weak transcription	Thymus	Thymus
5	chr21:45876400-45881200	Weak transcription	Right Atrium	heart
6	chr21:45876400-45883400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:45876400-45883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:45876600-45879400	Genic enhancers	Fetal Intestine Large	intestine
9	chr21:45876600-45879600	Genic enhancers	Fetal Intestine Small	intestine
10	chr21:45876600-45879800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:45876600-45881200	Weak transcription	Fetal Heart	heart
12	chr21:45876600-45883200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:45876600-45883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr21:45876800-45880800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:45876800-45881400	Weak transcription	Fetal Lung	lung
16	chr21:45877000-45879600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:45877200-45879400	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr21:45877200-45879600	Weak transcription	Lung	lung
19	chr21:45877200-45880600	Strong transcription	Fetal Stomach	stomach
20	chr21:45877200-45882000	Weak transcription	Spleen	Spleen
21	chr21:45877400-45879800	Genic enhancers	Colon Smooth Muscle	Colon
22	chr21:45877400-45881800	Enhancers	Placenta	Placenta
23	chr21:45877600-45879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45877600-45881000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:45877800-45880600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:45877800-45882600	Weak transcription	Ovary	ovary
27	chr21:45878200-45882400	Enhancers	Liver	Liver
28	chr21:45878200-45890400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr21:45878600-45880400	Genic enhancers	Brain Germinal Matrix	brain
30	chr21:45878800-45879600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45878800-45879600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:45878800-45879800	Strong transcription	Right Ventricle	heart
33	chr21:45878800-45880000	Strong transcription	Gastric	stomach
34	chr21:45879000-45879400	Enhancers	Adipose Nuclei	Adipose
35	chr21:45879000-45879400	Enhancers	Fetal Brain Male	brain
36	chr21:45879000-45879600	Genic enhancers	Fetal Brain Female	brain
37	chr21:45879000-45879800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:45879000-45882400	Enhancers	HepG2	liver
39	chr21:45879200-45879400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:45879200-45879400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:45879200-45883400	Weak transcription	Brain Inferior Temporal Lobe	brain

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