Variant report

Variant	rs59571955
Chromosome Location	chr11:9494036-9494037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
2	chr11:9490464..9492574-chr11:9493572..9495384,2	K562	blood:

Variant related genes	Relation type
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048487	0.86[AFR][1000 genomes]
rs11042379	1.00[AFR][1000 genomes]
rs12274646	1.00[AFR][1000 genomes]
rs34972213	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56067293	0.81[AFR][1000 genomes]
rs56080598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731483	0.81[AFR][1000 genomes]
rs58580896	0.81[AFR][1000 genomes]
rs58602953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58904027	0.86[AFR][1000 genomes]
rs59113683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60482254	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404370	0.81[AFR][1000 genomes]
rs73404376	0.81[AFR][1000 genomes]
rs73404388	0.81[AFR][1000 genomes]
rs73404392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404395	0.81[AFR][1000 genomes]
rs73406215	0.81[AFR][1000 genomes]
rs73406223	0.81[AFR][1000 genomes]
rs73406243	0.86[AFR][1000 genomes]
rs73406255	0.86[AFR][1000 genomes]
rs73406259	0.86[AFR][1000 genomes]
rs73406261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406291	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking 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	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483200-9494200	Weak transcription	Gastric	stomach
2	chr11:9483200-9495000	Weak transcription	Spleen	Spleen
3	chr11:9483400-9499800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:9483600-9494600	Weak transcription	Esophagus	oesophagus
5	chr11:9483600-9499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9483600-9499400	Weak transcription	Pancreas	Pancrea
7	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:9484000-9494200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:9484000-9494200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:9484000-9494600	Weak transcription	Fetal Brain Female	brain
11	chr11:9484000-9494800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:9484000-9495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:9484000-9495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9484000-9499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:9484200-9494200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:9484200-9494200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:9484200-9494800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:9484200-9494800	Weak transcription	Fetal Brain Male	brain
19	chr11:9484200-9494800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:9484200-9494800	Weak transcription	HSMM	muscle
21	chr11:9484200-9495200	Weak transcription	Fetal Kidney	kidney
22	chr11:9484200-9499800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:9484400-9495000	Weak transcription	Colonic Mucosa	Colon
24	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:9484800-9494400	Weak transcription	NHLF	lung
26	chr11:9484800-9496000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:9485000-9494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:9485000-9494800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:9485000-9495000	Weak transcription	NHDF-Ad	bronchial
30	chr11:9485000-9495200	Weak transcription	Aorta	Aorta
31	chr11:9485200-9494200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:9485200-9494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:9485200-9494800	Weak transcription	HMEC	breast
34	chr11:9485200-9494800	Weak transcription	HUVEC	blood vessel
35	chr11:9485200-9494800	Weak transcription	NHEK	skin
36	chr11:9485200-9495400	Weak transcription	Brain Germinal Matrix	brain
37	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
38	chr11:9485400-9494200	Weak transcription	HepG2	liver
39	chr11:9485400-9494200	Weak transcription	NH-A	brain
40	chr11:9485400-9495200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:9485400-9495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:9485400-9499600	Weak transcription	A549	lung
43	chr11:9485600-9494800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:9485600-9495000	Weak transcription	K562	blood
45	chr11:9485600-9499800	Weak transcription	Hela-S3	cervix
46	chr11:9485800-9495000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:9490800-9497800	Strong transcription	Primary T cells from cord blood	blood
50	chr11:9491200-9497800	Strong transcription	Primary B cells from cord blood	blood

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