Variant report

Variant	rs12293708
Chromosome Location	chr11:85957458-85957459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85955907..85958640-chr11:86011728..86014261,2	MCF-7	breast:
2	chr11:85957358..85959718-chr11:85962458..85964568,2	K562	blood:
3	chr11:85951079..85952582-chr11:85956879..85959583,2	K562	blood:
4	chr11:85867474..85869352-chr11:85956593..85958446,2	K562	blood:
5	chr11:85778910..85781849-chr11:85954546..85957728,3	K562	blood:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10898447	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234588	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234601	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12293081	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61904289	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9971532	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12293708	C11orf73	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85954800-85957600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:85955000-85957600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:85955000-85957600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:85955000-85957600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:85955000-85957800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:85955000-85958200	Active TSS	K562	blood
7	chr11:85955000-85958400	Active TSS	Aorta	Aorta
8	chr11:85955200-85957600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:85955200-85957600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:85955200-85957600	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:85955200-85957600	Active TSS	HSMMtube	muscle
12	chr11:85955200-85957800	Active TSS	Fetal Kidney	kidney
13	chr11:85955200-85957800	Active TSS	Ovary	ovary
14	chr11:85955200-85957800	Active TSS	NHDF-Ad	bronchial
15	chr11:85955200-85958000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:85955200-85958000	Active TSS	Primary T cells fromperipheralblood	blood
17	chr11:85955200-85958000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:85955200-85958200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:85955200-85958400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:85955200-85958600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:85955400-85957600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:85955400-85957600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:85955400-85957600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85955400-85957600	Active TSS	Fetal Stomach	stomach
25	chr11:85955400-85957600	Active TSS	A549	lung
26	chr11:85955400-85957800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:85955400-85957800	Active TSS	Fetal Muscle Leg	muscle
28	chr11:85955400-85957800	Active TSS	Fetal Thymus	thymus
29	chr11:85955400-85957800	Active TSS	HMEC	breast
30	chr11:85955400-85957800	Active TSS	NHLF	lung
31	chr11:85955400-85958400	Active TSS	Stomach Smooth Muscle	stomach
32	chr11:85955400-85958400	Active TSS	GM12878-XiMat	blood
33	chr11:85955400-85958400	Active TSS	Hela-S3	cervix
34	chr11:85956200-85958000	Active TSS	Right Atrium	heart
35	chr11:85956400-85957800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr11:85956400-85958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:85956600-85957800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:85956600-85957800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:85956800-85957600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr11:85956800-85957600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:85956800-85957600	Flanking Active TSS	Liver	Liver
42	chr11:85956800-85957800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:85956800-85957800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:85956800-85958000	Flanking Active TSS	Fetal Brain Female	brain
45	chr11:85957000-85957600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr11:85957000-85957600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:85957000-85957800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:85957000-85957800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:85957000-85957800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:85957000-85957800	Active TSS	HepG2	liver

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