Variant report

Variant	rs5030166
Chromosome Location	chr11:32449799-32449800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32420914..32422943-chr11:32448387..32450097,2	K562	blood:
2	chr11:32413863..32417759-chr11:32446575..32449998,5	K562	blood:

Variant related genes	Relation type
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11031779	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11031780	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11031781	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293603	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16923250	1.00[CHB][hapmap]
rs16923260	1.00[CHB][hapmap]
rs1799933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2234582	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4986811	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030172	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030185	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5030228	1.00[CHB][hapmap]
rs72893517	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7936152	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3419453	chr11:32449378-32449886	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5030166	WT1	cis	parietal	SCAN
rs5030166	WT1AS	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32447600-32449800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:32447600-32450000	Bivalent Enhancer	Fetal Heart	heart
3	chr11:32447800-32449800	Bivalent Enhancer	Fetal Brain Male	brain
4	chr11:32447800-32450000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:32448000-32450000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:32448000-32450000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:32448200-32449800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr11:32448200-32450000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:32448600-32449800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr11:32448600-32449800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr11:32448600-32450200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:32448600-32450400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr11:32448800-32449800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr11:32448800-32450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:32448800-32450200	ZNF genes & repeats	Spleen	Spleen
16	chr11:32448800-32450400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:32448800-32450600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:32448800-32454800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr11:32449000-32449800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr11:32449000-32449800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:32449000-32450000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:32449000-32450200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr11:32449000-32450200	Enhancers	Right Ventricle	heart
24	chr11:32449000-32450400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:32449000-32450600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr11:32449000-32450600	Bivalent Enhancer	Fetal Thymus	thymus
27	chr11:32449200-32449800	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr11:32449200-32450200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:32449200-32450200	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr11:32449200-32450200	Enhancers	Right Atrium	heart
31	chr11:32449200-32450400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr11:32449200-32450400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:32449400-32449800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:32449400-32450200	Bivalent Enhancer	Esophagus	oesophagus
35	chr11:32449600-32449800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:32449600-32449800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:32449600-32449800	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr11:32449600-32449800	Weak transcription	K562	blood
39	chr11:32449600-32450000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr11:32449600-32450000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:32449600-32450200	Bivalent Enhancer	Thymus	Thymus
42	chr11:32449600-32450800	Weak transcription	Ovary	ovary
43	chr11:32449600-32451000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr11:32449600-32451200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:32449600-32452400	Weak transcription	Pancreas	Pancrea

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