Variant report

Variant	rs11230019
Chromosome Location	chr11:59388742-59388743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59388045..59390986-chr11:59397842..59400769,2	K562	blood:
2	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
3	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11230036	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274820	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276505	0.83[EUR][1000 genomes]
rs12287696	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290453	0.84[EUR][1000 genomes]
rs12291415	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1287449	0.81[EUR][1000 genomes]
rs17154005	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154053	0.89[EUR][1000 genomes]
rs17508845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509520	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17510841	0.84[EUR][1000 genomes]
rs17511545	0.84[EUR][1000 genomes]
rs17511686	0.84[EUR][1000 genomes]
rs17592880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593836	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594827	0.89[EUR][1000 genomes]
rs17596359	0.84[EUR][1000 genomes]
rs2085962	0.84[EUR][1000 genomes]
rs57397608	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591540	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101580	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107183	1.00[ASN][1000 genomes]
rs7112355	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118051	1.00[ASN][1000 genomes]
rs7119530	0.84[EUR][1000 genomes]
rs7130130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948635	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997788	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59384400-59390000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:59384400-59396600	Weak transcription	Fetal Thymus	thymus
3	chr11:59384400-59396800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:59384400-59397400	Weak transcription	Adipose Nuclei	Adipose
5	chr11:59384400-59402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:59384400-59404400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:59384800-59395200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:59384800-59396800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:59384800-59396800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:59384800-59397000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:59384800-59397200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:59384800-59397200	Weak transcription	Liver	Liver
13	chr11:59384800-59402600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:59384800-59402800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:59384800-59404600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:59384800-59404800	Weak transcription	Brain Angular Gyrus	brain
17	chr11:59385000-59396600	Weak transcription	Primary T cells from cord blood	blood
18	chr11:59385000-59404400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:59385000-59404800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:59385200-59390800	Weak transcription	HepG2	liver
21	chr11:59385400-59402800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:59385400-59402800	Weak transcription	Dnd41	blood
23	chr11:59385400-59403000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:59385400-59404200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:59385600-59403000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:59386600-59402800	Weak transcription	Placenta	Placenta
27	chr11:59386800-59390000	Weak transcription	K562	blood
28	chr11:59387600-59391000	Weak transcription	A549	lung

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