Variant report

Variant	rs11585977
Chromosome Location	chr1:150510956-150510957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150505075..150507368-chr1:150509806..150511518,2	MCF-7	breast:
2	chr1:150509600..150512584-chr1:150516373..150518037,3	K562	blood:
3	chr1:150510592..150512874-chr1:150550671..150552191,2	MCF-7	breast:
4	chr1:150509381..150511222-chr1:150513686..150516609,2	MCF-7	breast:
5	chr1:150509650..150512738-chr1:150519728..150523088,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11204662	0.90[ASN][1000 genomes]
rs11589361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971010	0.90[ASN][1000 genomes]
rs61819435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11585977	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150504200-150511200	Enhancers	Fetal Muscle Trunk	muscle
2	chr1:150504200-150511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:150504600-150511600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:150505600-150511600	Enhancers	HepG2	liver
5	chr1:150505600-150511800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:150505600-150516000	Weak transcription	Fetal Stomach	stomach
7	chr1:150505600-150516200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:150505800-150511600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:150505800-150516000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:150506400-150512000	Enhancers	Placenta	Placenta
13	chr1:150506800-150511600	Enhancers	HSMM	muscle
14	chr1:150507200-150511600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:150507400-150511400	Enhancers	NHDF-Ad	bronchial
16	chr1:150507400-150511600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:150507400-150511600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:150507400-150511600	Enhancers	Osteobl	bone
19	chr1:150508000-150511400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:150508000-150511600	Enhancers	HSMMtube	muscle
21	chr1:150508000-150511800	Enhancers	NH-A	brain
22	chr1:150508200-150511200	Enhancers	A549	lung
23	chr1:150508200-150511400	Enhancers	Hela-S3	cervix
24	chr1:150508200-150511600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:150508400-150511200	Enhancers	HMEC	breast
26	chr1:150508400-150511400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:150508400-150511600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:150508600-150511400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:150508800-150511200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:150508800-150516000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:150508800-150516000	Weak transcription	Right Atrium	heart
32	chr1:150509000-150516400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:150509400-150511600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:150509400-150511600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:150509800-150511600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:150509800-150516000	Weak transcription	NHLF	lung
37	chr1:150510000-150511000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:150510000-150511200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:150510000-150511200	Enhancers	Adipose Nuclei	Adipose
40	chr1:150510000-150511600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:150510000-150511800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:150510000-150511800	Enhancers	Esophagus	oesophagus
43	chr1:150510200-150511200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:150510200-150511400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:150510400-150511000	Flanking Active TSS	NHEK	skin
46	chr1:150510400-150511400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:150510400-150511400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:150510400-150511400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:150510600-150511200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:150510600-150511200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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