Variant report

Variant	rs12807379
Chromosome Location	chr11:85912439-85912440
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85911743..85914059-chr11:85915051..85916646,2	MCF-7	breast:
2	chr11:85903738..85905603-chr11:85911140..85914043,2	K562	blood:
3	chr11:85910961..85912588-chr11:85929116..85931057,2	K562	blood:
4	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:
5	chr11:85904057..85906241-chr11:85912023..85914262,2	K562	blood:
6	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
7	chr11:85912105..85914194-chr11:85954802..85957064,2	K562	blood:
8	chr11:85768233..85770657-chr11:85911985..85913899,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254502	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12786136	1.00[AMR][1000 genomes]
rs12801046	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12808260	1.00[AMR][1000 genomes]
rs35035977	1.00[AMR][1000 genomes]
rs35766408	1.00[AMR][1000 genomes]
rs62619894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71465618	1.00[AMR][1000 genomes]
rs71465620	1.00[AMR][1000 genomes]
rs71465624	1.00[AMR][1000 genomes];0.83[EUR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
5	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
6	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
7	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:85908000-85913400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:85908200-85913200	Weak transcription	Fetal Lung	lung
10	chr11:85908400-85913200	Weak transcription	Osteobl	bone
11	chr11:85908600-85913000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:85908600-85913200	Weak transcription	Adipose Nuclei	Adipose
13	chr11:85908600-85913200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:85908600-85920000	Weak transcription	Small Intestine	intestine
15	chr11:85908800-85912600	Weak transcription	NHEK	skin
16	chr11:85908800-85913000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:85909000-85912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:85909600-85913200	Weak transcription	Liver	Liver
19	chr11:85910200-85913000	Enhancers	K562	blood
20	chr11:85910800-85913000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:85911000-85912600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:85911000-85912600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:85911200-85912600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:85911200-85913200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:85911200-85916400	Weak transcription	Hela-S3	cervix
26	chr11:85911400-85913200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:85911400-85913400	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:85911600-85913200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:85911600-85913200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:85912000-85912600	Enhancers	Ovary	ovary
31	chr11:85912000-85913200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:85912000-85913200	Enhancers	Brain Substantia Nigra	brain
33	chr11:85912000-85913600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:85912200-85912600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:85912200-85912800	Enhancers	Primary B cells from cord blood	blood
36	chr11:85912200-85913000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:85912200-85913200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:85912200-85913200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:85912200-85913400	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:85912400-85912600	Enhancers	Fetal Muscle Leg	muscle
41	chr11:85912400-85912600	Enhancers	Psoas Muscle	Psoas
42	chr11:85912400-85912600	Enhancers	HSMM	muscle
43	chr11:85912400-85913000	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:85912400-85913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:85912400-85913200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:85912400-85913200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr11:85912400-85913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:85912400-85913200	Enhancers	Brain Anterior Caudate	brain
49	chr11:85912400-85913200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:85912400-85913200	Weak transcription	Right Atrium	heart

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