Variant report

Variant	rs61819435
Chromosome Location	chr1:150511628-150511629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150502838..150505562-chr1:150511108..150512922,2	K562	blood:
2	chr1:150509600..150512584-chr1:150516373..150518037,3	K562	blood:
3	chr1:150510592..150512874-chr1:150550671..150552191,2	MCF-7	breast:
4	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	0.91[ASN][1000 genomes]
rs11585977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4971010	0.91[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
rs61819435	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150505600-150511800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:150505600-150516000	Weak transcription	Fetal Stomach	stomach
3	chr1:150505600-150516200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150505800-150516000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:150506400-150512000	Enhancers	Placenta	Placenta
8	chr1:150508000-150511800	Enhancers	NH-A	brain
9	chr1:150508800-150516000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150508800-150516000	Weak transcription	Right Atrium	heart
11	chr1:150509000-150516400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:150509800-150516000	Weak transcription	NHLF	lung
13	chr1:150510000-150511800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:150510000-150511800	Enhancers	Esophagus	oesophagus
15	chr1:150510600-150516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:150510800-150511800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:150510800-150512600	Weak transcription	K562	blood
18	chr1:150511000-150518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:150511200-150512000	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:150511200-150515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:150511200-150515200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:150511200-150516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150511200-150516000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:150511200-150516400	Weak transcription	Adipose Nuclei	Adipose
25	chr1:150511200-150521000	Weak transcription	A549	lung
26	chr1:150511400-150516000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:150511400-150516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:150511400-150516200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:150511400-150520800	Weak transcription	Hela-S3	cervix
30	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
31	chr1:150511600-150514800	Weak transcription	HepG2	liver
32	chr1:150511600-150516000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:150511600-150516000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:150511600-150516000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:150511600-150516000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:150511600-150516000	Weak transcription	HSMM	muscle
37	chr1:150511600-150516000	Weak transcription	HSMMtube	muscle
38	chr1:150511600-150516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:150511600-150516200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion

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