Variant report

Variant	rs7549396
Chromosome Location	chr1:150464603-150464604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150458426..150460384-chr1:150464250..150466250,2	K562	blood:
2	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:
3	chr1:150464206..150466889-chr1:150476033..150478905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1260387	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs698915	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9436117	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7549396	MRPS21	cis	Thyroid	GTEx
rs7549396	RP11-54A4.2	cis	Esophagus Mucosa	GTEx
rs7549396	ADAMTSL4	cis	Esophagus Mucosa	GTEx
rs7549396	MRPS21	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
2	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
3	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
4	chr1:150460800-150465600	Weak transcription	Small Intestine	intestine
5	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
6	chr1:150460800-150470000	Weak transcription	HMEC	breast
7	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
8	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:150461000-150464800	Weak transcription	A549	lung
12	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
13	chr1:150461200-150466400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:150461200-150466800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:150461400-150466200	Strong transcription	HSMMtube	muscle
19	chr1:150461400-150466400	Strong transcription	Brain Angular Gyrus	brain
20	chr1:150461400-150466400	Strong transcription	Brain Hippocampus Middle	brain
21	chr1:150461400-150466600	Strong transcription	Placenta	Placenta
22	chr1:150461400-150466600	Strong transcription	NH-A	brain
23	chr1:150461400-150466800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:150461400-150466800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:150461400-150466800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:150461400-150466800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:150461400-150466800	Strong transcription	Brain Anterior Caudate	brain
28	chr1:150461400-150466800	Strong transcription	Thymus	Thymus
29	chr1:150461400-150466800	Strong transcription	NHEK	skin
30	chr1:150461400-150466800	Strong transcription	Osteobl	bone
31	chr1:150461400-150467000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:150461400-150467000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:150461400-150467000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:150461400-150467000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:150461400-150467000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:150461400-150467000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:150461400-150467000	Strong transcription	Fetal Thymus	thymus
38	chr1:150461400-150467000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:150461400-150467200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:150461400-150467200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:150461400-150467200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:150461400-150467400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:150461400-150470800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
49	chr1:150461600-150465400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:150461600-150466400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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