Variant report

Variant	rs71475921
Chromosome Location	chr11:47573342-47573343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
2	chr11:47571288..47573771-chr11:47598526..47602106,3	MCF-7	breast:
3	chr11:47569413..47573933-chr11:47586162..47588925,4	K562	blood:
4	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
5	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:
6	chr11:47277726..47279607-chr11:47571711..47573613,2	K562	blood:
7	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
8	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
9	chr11:47572750..47576231-chr11:47662956..47665605,3	K562	blood:
10	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
11	chr11:47571243..47573652-chr11:47580748..47583116,2	MCF-7	breast:
12	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123444	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10769282	0.80[ASN][1000 genomes]
rs10838725	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10838726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838731	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838732	0.82[ASN][1000 genomes]
rs11039284	0.90[AFR][1000 genomes]
rs11039290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039297	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039332	0.80[AMR][1000 genomes]
rs12225051	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12226590	0.85[ASN][1000 genomes]
rs12287076	0.83[EUR][1000 genomes]
rs12365079	0.80[AMR][1000 genomes]
rs2280231	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6485758	0.89[AMR][1000 genomes]
rs7120548	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7126378	0.83[ASN][1000 genomes]
rs7933019	0.88[AMR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
2	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47566200-47573800	Weak transcription	Gastric	stomach
4	chr11:47570600-47573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47571200-47573400	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:47571400-47573600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:47571600-47573600	Enhancers	Left Ventricle	heart
8	chr11:47571600-47573800	Enhancers	Spleen	Spleen
9	chr11:47571600-47574200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:47572000-47573400	Enhancers	Small Intestine	intestine
11	chr11:47572000-47573600	Enhancers	Fetal Heart	heart
12	chr11:47572000-47573800	Transcr. at gene 5' and 3'	Hela-S3	cervix
13	chr11:47572000-47574000	Flanking Active TSS	Liver	Liver
14	chr11:47572000-47574200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr11:47572200-47574400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:47572400-47573400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:47572400-47573400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:47572400-47573400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47572400-47573400	Enhancers	Fetal Lung	lung
20	chr11:47572400-47573600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr11:47572400-47573600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr11:47572400-47574200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:47572400-47574400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:47572400-47574400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:47572400-47574600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:47572600-47573400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:47572600-47573400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:47572600-47573400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:47572600-47573400	Enhancers	Brain Substantia Nigra	brain
30	chr11:47572600-47573400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:47572600-47573400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:47572600-47573400	Flanking Active TSS	HUVEC	blood vessel
33	chr11:47572600-47573400	Transcr. at gene 5' and 3'	NHEK	skin
34	chr11:47572600-47573600	Flanking Active TSS	Fetal Thymus	thymus
35	chr11:47572600-47573600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr11:47572600-47574000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:47572600-47574000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:47572600-47574200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr11:47572600-47574200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:47572600-47574200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:47572600-47574200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:47572600-47574400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:47572600-47574400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:47572600-47574400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:47572600-47575200	Active TSS	Psoas Muscle	Psoas
46	chr11:47572800-47573400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:47572800-47573400	Enhancers	Fetal Kidney	kidney
48	chr11:47572800-47573400	Flanking Active TSS	Thymus	Thymus
49	chr11:47572800-47573400	Flanking Active TSS	HepG2	liver
50	chr11:47572800-47573400	Flanking Active TSS	Osteobl	bone

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