Variant report

Variant	rs5030176
Chromosome Location	chr11:32448895-32448896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32447031..32449133-chr11:32603580..32605616,2	K562	blood:
2	chr11:32420914..32422943-chr11:32448387..32450097,2	K562	blood:
3	chr11:32413863..32417759-chr11:32446575..32449998,5	K562	blood:

Variant related genes	Relation type
ENSG00000184937	Chromatin interaction
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10742277	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11031783	0.89[ASN][1000 genomes]
rs11031784	0.91[ASN][1000 genomes]
rs2234580	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2234585	0.84[ASN][1000 genomes]
rs2301250	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301251	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301252	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301253	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2301254	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809060	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809061	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809062	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858446	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858447	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858448	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886325	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3930513	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140413	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030171	0.84[ASN][1000 genomes]
rs5030178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030179	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110547	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120686	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32447600-32449200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:32447600-32449200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:32447600-32449800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:32447600-32450000	Bivalent Enhancer	Fetal Heart	heart
5	chr11:32447800-32449000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr11:32447800-32449800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr11:32447800-32450000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:32448000-32449000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:32448000-32449000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:32448000-32449000	Bivalent Enhancer	Placenta	Placenta
11	chr11:32448000-32449600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr11:32448000-32450000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:32448000-32450000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:32448200-32449000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:32448200-32449000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:32448200-32449000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
17	chr11:32448200-32449000	Bivalent Enhancer	Fetal Lung	lung
18	chr11:32448200-32449000	Active TSS	Right Atrium	heart
19	chr11:32448200-32449200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:32448200-32449200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr11:32448200-32449600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr11:32448200-32449600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:32448200-32449800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr11:32448200-32450000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:32448400-32449000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:32448400-32449000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:32448400-32449000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:32448400-32449000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr11:32448400-32449000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:32448400-32449000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr11:32448400-32449200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:32448400-32449200	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr11:32448400-32449600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:32448400-32449600	Enhancers	Pancreas	Pancrea
35	chr11:32448600-32449000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:32448600-32449000	Flanking Active TSS	Ovary	ovary
37	chr11:32448600-32449200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr11:32448600-32449200	Bivalent Enhancer	Brain Anterior Caudate	brain
39	chr11:32448600-32449200	Bivalent Enhancer	Lung	lung
40	chr11:32448600-32449400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr11:32448600-32449800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr11:32448600-32449800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr11:32448600-32450200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:32448600-32450400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr11:32448800-32449000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:32448800-32449000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr11:32448800-32449000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr11:32448800-32449000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:32448800-32449000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr11:32448800-32449000	Active TSS	Fetal Kidney	kidney

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