Variant report

Variant	rs11234588
Chromosome Location	chr11:85957314-85957315
allele	C/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	chr11:85951079..85952582-chr11:85956879..85959583,2	K562	blood:
3	chr11:85867474..85869352-chr11:85956593..85958446,2	K562	blood:
4	chr11:85778910..85781849-chr11:85954546..85957728,3	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction
ENSG00000149196	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10792841	0.84[AMR][1000 genomes]
rs10792842	0.84[AMR][1000 genomes]
rs10792843	0.84[AMR][1000 genomes]
rs10898447	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898457	0.81[AMR][1000 genomes]
rs11234594	0.84[AMR][1000 genomes]
rs11234601	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12293081	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12293708	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61904289	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974144	0.84[AMR][1000 genomes]
rs9971532	0.82[AMR][1000 genomes];0.85[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
rs11234588	C11orf73	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr11:85955000-85957400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:85955000-85957400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:85955000-85957400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:85955000-85957400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:85955000-85957400	Active TSS	Brain Cingulate Gyrus	brain
7	chr11:85955000-85957400	Active TSS	Colonic Mucosa	Colon
8	chr11:85955000-85957400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:85955000-85957400	Active TSS	Fetal Muscle Trunk	muscle
10	chr11:85955000-85957400	Active TSS	Psoas Muscle	Psoas
11	chr11:85955000-85957400	Active TSS	Thymus	Thymus
12	chr11:85955000-85957400	Active TSS	HSMM	muscle
13	chr11:85955000-85957600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:85955000-85957600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:85955000-85957600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:85955000-85957800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:85955000-85958200	Active TSS	K562	blood
18	chr11:85955000-85958400	Active TSS	Aorta	Aorta
19	chr11:85955200-85957400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:85955200-85957400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:85955200-85957400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:85955200-85957400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:85955200-85957400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:85955200-85957400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:85955200-85957400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:85955200-85957400	Active TSS	Fetal Intestine Large	intestine
27	chr11:85955200-85957400	Active TSS	Placenta	Placenta
28	chr11:85955200-85957400	Active TSS	Right Ventricle	heart
29	chr11:85955200-85957600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:85955200-85957600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:85955200-85957600	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:85955200-85957600	Active TSS	HSMMtube	muscle
33	chr11:85955200-85957800	Active TSS	Fetal Kidney	kidney
34	chr11:85955200-85957800	Active TSS	Ovary	ovary
35	chr11:85955200-85957800	Active TSS	NHDF-Ad	bronchial
36	chr11:85955200-85958000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:85955200-85958000	Active TSS	Primary T cells fromperipheralblood	blood
38	chr11:85955200-85958000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:85955200-85958200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:85955200-85958400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:85955200-85958600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:85955400-85957400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:85955400-85957400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:85955400-85957400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:85955400-85957400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr11:85955400-85957400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:85955400-85957400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:85955400-85957400	Active TSS	Brain Angular Gyrus	brain
49	chr11:85955400-85957400	Active TSS	Brain Germinal Matrix	brain
50	chr11:85955400-85957400	Active TSS	Fetal Intestine Small	intestine

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