Variant report

Variant	rs12279118
Chromosome Location	chr11:66913638-66913639
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66913392..66915681-chr11:66919440..66921256,2	MCF-7	breast:
2	chr11:66887316..66889399-chr11:66912430..66914631,3	K562	blood:
3	chr11:66886250..66888130-chr11:66911603..66914118,3	MCF-7	breast:
4	chr11:66906510..66908110-chr11:66912179..66913984,2	K562	blood:
5	chr11:66912440..66914149-chr11:66918816..66921683,2	K562	blood:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11227728	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272826	1.00[AMR][1000 genomes]
rs12278721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289324	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730144	1.00[AMR][1000 genomes]
rs9704725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	48 gene(s)	inside rSNPs	diseases
3	esv19488	chr11:66907429-66917095	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv555247	chr11:66908750-66914661	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv555248	chr11:66908750-66915614	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv555249	chr11:66908750-66916262	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv555250	chr11:66908750-66916676	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv555251	chr11:66908750-66916837	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv555252	chr11:66910826-66916392	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66888600-66922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:66889000-66920400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:66889800-66923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66890200-66920000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66890800-66923000	Strong transcription	Fetal Thymus	thymus
6	chr11:66892600-66914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:66893200-66923000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:66893200-66923400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:66894400-66922400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:66895200-66915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:66895600-66922000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:66897200-66916000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:66898400-66915600	Strong transcription	Fetal Intestine Large	intestine
14	chr11:66899200-66918400	Weak transcription	Small Intestine	intestine
15	chr11:66900400-66921200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
17	chr11:66902400-66920600	Weak transcription	Ovary	ovary
18	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66903400-66925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:66904000-66918000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:66904200-66919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:66904400-66918000	Weak transcription	Right Ventricle	heart
23	chr11:66904400-66918200	Weak transcription	Brain Angular Gyrus	brain
24	chr11:66904400-66922800	Weak transcription	Colonic Mucosa	Colon
25	chr11:66904400-66934000	Weak transcription	K562	blood
26	chr11:66904600-66918000	Weak transcription	Fetal Brain Male	brain
27	chr11:66904600-66918200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:66904600-66928400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66904800-66915400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:66904800-66917400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:66904800-66917400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:66904800-66918200	Weak transcription	HSMMtube	muscle
33	chr11:66904800-66927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:66904800-66930400	Weak transcription	Fetal Heart	heart
35	chr11:66905000-66916800	Weak transcription	Fetal Kidney	kidney
36	chr11:66905000-66917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:66905200-66918200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:66905200-66924600	Strong transcription	Fetal Intestine Small	intestine
39	chr11:66905200-66925200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:66906000-66913800	Weak transcription	HSMM	muscle
42	chr11:66906000-66914000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:66906200-66925600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:66906600-66917400	Weak transcription	NHEK	skin
45	chr11:66906600-66925600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:66907600-66915400	Weak transcription	HepG2	liver
47	chr11:66907600-66916800	Weak transcription	Fetal Lung	lung
48	chr11:66907600-66922600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:66907800-66914600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:66907800-66917400	Weak transcription	H9 Cell Line	embryonic stem cell

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