Variant report

Variant	rs7126915
Chromosome Location	chr11:62268229-62268230
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62267162..62269076-chr11:62300742..62303582,2	MCF-7	breast:
2	chr11:62262183..62263826-chr11:62266495..62268573,2	MCF-7	breast:
3	chr11:62264769..62270336-chr11:62318540..62328182,11	MCF-7	breast:
4	chr11:62265718..62269742-chr11:62305848..62308508,5	MCF-7	breast:
5	chr11:62264782..62267119-chr11:62267756..62269334,2	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	chr11:62266237..62270077-chr11:62311081..62316115,10	MCF-7	breast:
9	chr11:62161092..62163982-chr11:62266671..62270738,3	MCF-7	breast:
10	chr11:62262841..62270580-chr11:62309307..62316157,15	MCF-7	breast:
11	chr11:62264064..62269761-chr11:62316551..62324170,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257058	Chromatin interaction
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
2	chr11:62263400-62271800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:62264600-62268600	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:62265000-62268600	Weak transcription	Liver	Liver
5	chr11:62265000-62269400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:62265000-62271800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:62265200-62269200	Weak transcription	Fetal Brain Female	brain
8	chr11:62265400-62268600	Weak transcription	Lung	lung
9	chr11:62265400-62269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:62265400-62272400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:62265600-62269400	Weak transcription	Stomach Mucosa	stomach
12	chr11:62265800-62270200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:62266200-62269000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:62266200-62271800	Weak transcription	Fetal Intestine Large	intestine
15	chr11:62266400-62268600	Enhancers	Colonic Mucosa	Colon
16	chr11:62266400-62272800	Enhancers	Placenta	Placenta
17	chr11:62266600-62270600	Enhancers	Fetal Muscle Leg	muscle
18	chr11:62266600-62271000	Enhancers	Left Ventricle	heart
19	chr11:62266800-62268800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:62266800-62269200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:62266800-62269800	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:62266800-62270200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:62266800-62270800	Enhancers	Psoas Muscle	Psoas
24	chr11:62266800-62270800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:62266800-62271200	Enhancers	Adipose Nuclei	Adipose
26	chr11:62266800-62271400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:62267000-62268400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:62267000-62268400	Flanking Active TSS	NHEK	skin
29	chr11:62267000-62268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:62267000-62268800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:62267000-62268800	Enhancers	Colon Smooth Muscle	Colon
32	chr11:62267000-62269000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:62267000-62269000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:62267000-62269000	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:62267000-62269800	Enhancers	Right Ventricle	heart
36	chr11:62267000-62269800	Enhancers	NHDF-Ad	bronchial
37	chr11:62267000-62270000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:62267000-62270200	Enhancers	Fetal Stomach	stomach
39	chr11:62267000-62270600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:62267000-62271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
42	chr11:62267200-62268400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:62267200-62268400	Enhancers	Osteobl	bone
44	chr11:62267200-62268800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:62267200-62269400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:62267200-62269400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:62267200-62269400	Enhancers	Brain Anterior Caudate	brain
48	chr11:62267200-62269400	Flanking Active TSS	HepG2	liver
49	chr11:62267200-62269600	Enhancers	HSMMtube	muscle
50	chr11:62267200-62269800	Enhancers	Rectal Smooth Muscle	rectum

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