Variant report

Variant	rs11231748
Chromosome Location	chr11:64094075-64094076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64088256..64090312-chr11:64092623..64094945,2	MCF-7	breast:
2	chr11:64092602..64094465-chr11:64105880..64108859,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10792429	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231745	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244621	0.80[ASN][1000 genomes]
rs34499953	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3903175	0.90[EUR][1000 genomes]
rs4930702	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73502335	0.85[AFR][1000 genomes]
rs953778	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9988817	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9988874	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
11	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
13	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
14	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
15	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
16	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
19	nsv975195	chr11:64091748-64094419	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11231748	HSPC152	Cis_1M	lymphoblastoid	RTeQTL
rs11231748	PRDX5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64086800-64096600	Weak transcription	Right Atrium	heart
2	chr11:64086800-64099000	Weak transcription	Small Intestine	intestine
3	chr11:64087000-64097200	Weak transcription	HSMMtube	muscle
4	chr11:64087000-64099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:64087000-64099000	Weak transcription	HSMM	muscle
6	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64087200-64098800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:64087200-64099000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:64087200-64099000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:64087400-64096800	Weak transcription	Psoas Muscle	Psoas
11	chr11:64087400-64097000	Weak transcription	HUVEC	blood vessel
12	chr11:64087400-64099000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:64087400-64099000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:64088400-64094800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:64089200-64096600	Weak transcription	NHDF-Ad	bronchial
16	chr11:64089200-64096800	Weak transcription	Aorta	Aorta
17	chr11:64089200-64096800	Weak transcription	A549	lung
18	chr11:64089200-64098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:64089600-64094800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:64089800-64096200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:64090000-64098600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:64090200-64099400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:64090400-64094800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:64090400-64096400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64090400-64096600	Weak transcription	Osteobl	bone
27	chr11:64090600-64094800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:64090600-64095400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:64090600-64096600	Weak transcription	Left Ventricle	heart
30	chr11:64090600-64096600	Weak transcription	Ovary	ovary
31	chr11:64090600-64096600	Weak transcription	Stomach Mucosa	stomach
32	chr11:64090600-64096800	Weak transcription	Hela-S3	cervix
33	chr11:64090600-64098400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:64090600-64098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:64090600-64099000	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:64090600-64099000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:64090600-64099200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:64090600-64099200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:64090800-64094200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:64090800-64095400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:64090800-64096400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:64090800-64096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:64090800-64096600	Weak transcription	Right Ventricle	heart
44	chr11:64090800-64096800	Weak transcription	Liver	Liver
45	chr11:64090800-64097000	Weak transcription	Placenta	Placenta
46	chr11:64090800-64098600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:64091000-64094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:64091000-64095200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:64091000-64096400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:64091000-64096600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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