Variant report

Variant	rs11224440
Chromosome Location	chr11:100636955-100636956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100557937..100559587-chr11:100634820..100637325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248027	Chromatin interaction
ENSG00000165895	Chromatin interaction

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

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

rs_ID	r²[population]
rs11224415	0.82[ASN][1000 genomes]
rs12270239	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12271498	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12276239	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276724	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932012	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941077	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11224440	MRPL12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
3	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
4	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:100629200-100642800	Weak transcription	Liver	Liver
8	chr11:100631000-100637800	Weak transcription	Placenta	Placenta
9	chr11:100631000-100639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:100631000-100639600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:100631800-100638600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:100632000-100639200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:100632000-100640000	Weak transcription	Fetal Heart	heart
15	chr11:100632200-100640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:100632200-100645200	Weak transcription	Colonic Mucosa	Colon
17	chr11:100632200-100647200	Weak transcription	HSMM	muscle
18	chr11:100632800-100639600	Weak transcription	Fetal Lung	lung
19	chr11:100632800-100645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:100632800-100645000	Weak transcription	Gastric	stomach
21	chr11:100633000-100641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:100633000-100647000	Weak transcription	NHLF	lung
23	chr11:100633200-100639000	Weak transcription	Small Intestine	intestine
24	chr11:100633200-100639800	Weak transcription	Adipose Nuclei	Adipose
25	chr11:100633200-100641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:100633200-100641800	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:100633200-100642600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
29	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:100635200-100639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:100635400-100637000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:100635400-100637000	Enhancers	Fetal Intestine Small	intestine
34	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:100635600-100639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:100635800-100639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:100635800-100639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:100635800-100645600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:100636000-100639600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:100636600-100637000	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:100636600-100639600	Weak transcription	Stomach Mucosa	stomach
42	chr11:100636600-100643000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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