Variant report

Variant	rs2255016
Chromosome Location	chr21:45473673-45473674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45430900..45434144-chr21:45470946..45474131,3	K562	blood:
2	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:
3	chr21:45453079..45455479-chr21:45471617..45474018,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1051981	0.86[ASN][1000 genomes]
rs13047030	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13047214	0.93[ASN][1000 genomes]
rs13052507	0.80[ASN][1000 genomes]
rs2071154	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187313	0.80[ASN][1000 genomes]
rs2242951	0.80[ASN][1000 genomes]
rs2255955	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2277805	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2299816	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299817	0.90[ASN][1000 genomes]
rs2838469	0.91[ASN][1000 genomes]
rs28385580	0.93[ASN][1000 genomes]
rs2855653	0.80[ASN][1000 genomes]
rs35524612	0.87[ASN][1000 genomes]
rs3788102	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3788104	0.87[ASN][1000 genomes]
rs59675192	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62226688	0.86[ASN][1000 genomes]
rs62227166	0.82[ASN][1000 genomes]
rs7275722	0.93[ASN][1000 genomes]
rs7276709	0.93[ASN][1000 genomes]
rs7282324	0.80[ASN][1000 genomes]
rs885872	0.80[ASN][1000 genomes]
rs9306169	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs965733	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs968713	0.80[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	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	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2255016	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2255016	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:45457600-45474000	Weak transcription	A549	lung
7	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:45458000-45482800	Weak transcription	HMEC	breast
9	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:45459000-45474800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
14	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:45460000-45474600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
20	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:45465800-45480000	Strong transcription	Dnd41	blood
23	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
24	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
26	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:45466200-45474000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:45468200-45475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:45468400-45475800	Weak transcription	Colonic Mucosa	Colon
31	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:45469000-45476600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45469200-45474400	Weak transcription	Fetal Kidney	kidney
37	chr21:45469200-45475000	Enhancers	Brain Angular Gyrus	brain
38	chr21:45469200-45475400	Weak transcription	Hela-S3	cervix
39	chr21:45469400-45475800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:45469800-45474600	Weak transcription	HUVEC	blood vessel
43	chr21:45470000-45474400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:45470400-45475400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:45470400-45478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:45470400-45480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:45470600-45476200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr21:45470800-45480000	Strong transcription	GM12878-XiMat	blood
49	chr21:45471200-45473800	Genic enhancers	Placenta	Placenta
50	chr21:45471200-45477800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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