Variant report

Variant	rs12223424
Chromosome Location	chr11:62265899-62265900
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62263893..62266128-chr11:62309249..62311326,26	MCF-7	breast:
2	chr11:62264769..62270336-chr11:62318540..62328182,11	MCF-7	breast:
3	chr11:62252800..62254625-chr11:62265027..62267271,2	K562	blood:
4	chr11:62265718..62269742-chr11:62305848..62308508,5	MCF-7	breast:
5	chr11:62264606..62266453-chr11:62274794..62277331,2	MCF-7	breast:
6	chr11:62228284..62229850-chr11:62265751..62268562,2	K562	blood:
7	chr11:62263870..62269326-chr11:62305524..62310974,8	MCF-7	breast:
8	chr11:62264782..62267119-chr11:62267756..62269334,2	MCF-7	breast:
9	chr11:62261921..62263896-chr11:62265298..62268130,3	K562	blood:
10	chr11:62265825..62267871-chr11:62356497..62360307,3	MCF-7	breast:
11	chr11:62261921..62263712-chr11:62265298..62267732,2	K562	blood:
12	chr11:62262841..62270580-chr11:62309307..62316157,15	MCF-7	breast:
13	chr11:62264064..62269761-chr11:62316551..62324170,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255508	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10897285	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231108	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231109	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231110	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231111	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231112	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11231115	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231116	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231117	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231119	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231120	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231121	1.00[ASN][1000 genomes]
rs11819950	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822224	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826756	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827029	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271287	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273682	1.00[ASN][1000 genomes]
rs12273757	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273761	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289932	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291022	1.00[ASN][1000 genomes]
rs12294680	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157332	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157338	1.00[ASN][1000 genomes]
rs17157363	1.00[ASN][1000 genomes]
rs17157365	0.91[ASN][1000 genomes]
rs35117866	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3867144	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4124	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234858	0.91[ASN][1000 genomes]
rs56973213	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57973105	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59295893	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105793	1.00[ASN][1000 genomes]
rs7124044	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73500219	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929818	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946258	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv345	chr11:62225251-62270254	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62247800-62266600	Weak transcription	Esophagus	oesophagus
2	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
3	chr11:62257400-62267000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:62257400-62267000	Weak transcription	Fetal Stomach	stomach
5	chr11:62257600-62267000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:62258200-62266800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:62258400-62267000	Weak transcription	Right Atrium	heart
8	chr11:62259200-62267000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:62263400-62271800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:62263600-62267200	Enhancers	HepG2	liver
11	chr11:62264200-62266400	Enhancers	Fetal Intestine Small	intestine
12	chr11:62264400-62266000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:62264600-62267000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:62264600-62267000	Enhancers	HMEC	breast
15	chr11:62264600-62267000	Enhancers	NHEK	skin
16	chr11:62264600-62267200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:62264600-62267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:62264600-62268600	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:62264800-62267600	Weak transcription	Ovary	ovary
20	chr11:62265000-62266600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:62265000-62267000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:62265000-62267000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:62265000-62267200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:62265000-62267200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:62265000-62267200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:62265000-62267200	Weak transcription	HSMMtube	muscle
27	chr11:62265000-62267400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:62265000-62268600	Weak transcription	Liver	Liver
29	chr11:62265000-62269400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:62265000-62271800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:62265200-62266800	Weak transcription	Adipose Nuclei	Adipose
32	chr11:62265200-62266800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:62265200-62266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:62265200-62267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:62265200-62267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:62265200-62267000	Weak transcription	Brain Substantia Nigra	brain
37	chr11:62265200-62267000	Weak transcription	Fetal Heart	heart
38	chr11:62265200-62267000	Weak transcription	NH-A	brain
39	chr11:62265200-62267200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:62265200-62267400	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:62265200-62269200	Weak transcription	Fetal Brain Female	brain
42	chr11:62265400-62266400	Weak transcription	Placenta	Placenta
43	chr11:62265400-62266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:62265400-62266600	Weak transcription	Left Ventricle	heart
45	chr11:62265400-62266600	Weak transcription	K562	blood
46	chr11:62265400-62267000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:62265400-62267000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:62265400-62267000	Weak transcription	HSMM	muscle
49	chr11:62265400-62267200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:62265400-62268600	Weak transcription	Lung	lung

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