Variant report

Variant	rs4819380
Chromosome Location	chr21:45560755-45560756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45560677..45566873-chr21:45750837..45755413,8	K562	blood:
2	chr21:45559963..45564053-chr21:45709027..45711326,3	K562	blood:
3	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
4	chr21:45560579..45563235-chr21:45751152..45755241,3	K562	blood:
5	chr21:45558306..45561463-chr21:45708523..45710910,3	K562	blood:
6	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
7	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
8	chr21:45559595..45561222-chr21:45756601..45758577,2	K562	blood:
9	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255902	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000184441	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160224	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051981	0.90[ASN][1000 genomes]
rs12626547	0.83[AFR][1000 genomes]
rs13047214	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17004630	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1971507	0.84[AMR][1000 genomes]
rs2006694	0.91[ASN][1000 genomes]
rs2071135	1.00[ASN][1000 genomes]
rs2071154	0.82[ASN][1000 genomes]
rs2187313	0.98[ASN][1000 genomes]
rs2242951	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276532	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2299817	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2838493	0.89[ASN][1000 genomes]
rs28385580	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2855653	0.98[ASN][1000 genomes]
rs35524612	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788104	0.91[ASN][1000 genomes]
rs3788108	0.99[ASN][1000 genomes]
rs4818884	0.82[AFR][1000 genomes]
rs4818885	0.82[AFR][1000 genomes]
rs4819375	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62226688	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62227166	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62229740	0.83[EUR][1000 genomes]
rs7275722	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7276709	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7282324	0.98[ASN][1000 genomes]
rs7676	0.99[ASN][1000 genomes]
rs885872	0.98[ASN][1000 genomes]
rs968713	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	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
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4819380	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45554000-45563400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45554400-45561200	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr21:45555000-45561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr21:45555200-45560800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:45555200-45561200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:45555200-45561200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:45555200-45561200	Genic enhancers	Spleen	Spleen
8	chr21:45555400-45560800	Weak transcription	Small Intestine	intestine
9	chr21:45555400-45561000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45555400-45561200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45555800-45560800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:45555800-45561000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:45555800-45561200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr21:45555800-45561200	Strong transcription	Fetal Brain Female	brain
15	chr21:45556000-45561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:45556000-45561000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:45556400-45561400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr21:45556600-45560800	Genic enhancers	Brain Hippocampus Middle	brain
19	chr21:45556800-45560800	Genic enhancers	Pancreas	Pancrea
20	chr21:45557200-45561200	Genic enhancers	Fetal Thymus	thymus
21	chr21:45557400-45561800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:45557600-45561800	Genic enhancers	Fetal Stomach	stomach
23	chr21:45558000-45561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:45558000-45566200	Enhancers	Left Ventricle	heart
25	chr21:45558200-45560800	Strong transcription	Brain Germinal Matrix	brain
26	chr21:45558200-45573000	Weak transcription	NH-A	brain
27	chr21:45558400-45560800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:45558400-45560800	Weak transcription	Ovary	ovary
29	chr21:45558400-45561000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr21:45558400-45561000	Strong transcription	Aorta	Aorta
31	chr21:45558400-45561400	Genic enhancers	GM12878-XiMat	blood
32	chr21:45558400-45562800	Weak transcription	Fetal Brain Male	brain
33	chr21:45558600-45560800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
34	chr21:45558600-45561000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr21:45558600-45561800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:45558800-45561800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:45559000-45561000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr21:45559000-45561200	Genic enhancers	Dnd41	blood
39	chr21:45559000-45561800	Enhancers	Stomach Mucosa	stomach
40	chr21:45559200-45560800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:45559200-45560800	Strong transcription	Brain Substantia Nigra	brain
42	chr21:45559200-45561200	Genic enhancers	Primary B cells from cord blood	blood
43	chr21:45559200-45561200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:45559200-45561600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
45	chr21:45559400-45561000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
46	chr21:45559400-45561000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr21:45559400-45565400	Enhancers	Fetal Lung	lung
48	chr21:45559600-45561000	Genic enhancers	NHLF	lung
49	chr21:45559600-45561400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr21:45559600-45561800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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