Variant report

Variant	rs7553647
Chromosome Location	chr1:150472666-150472667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150469936..150473683-chr1:150475161..150478832,3	MCF-7	breast:
2	chr1:150471391..150473524-chr1:150476982..150479373,2	K562	blood:
3	chr1:150459498..150461474-chr1:150470081..150473742,3	MCF-7	breast:
4	chr1:150471228..150472966-chr1:150518134..150519906,2	K562	blood:

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10888583	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10888584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1097066	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1097069	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1097071	0.84[ASN][1000 genomes]
rs11205370	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205371	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205373	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs11205375	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11205382	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205384	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205387	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11581786	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11590406	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12023277	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12031973	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12049177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260373	0.85[ASN][1000 genomes]
rs1260385	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1260391	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260401	0.82[ASN][1000 genomes]
rs1260403	0.84[ASN][1000 genomes]
rs1260407	0.95[CEU][hapmap]
rs1260408	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1260419	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260420	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260424	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260457	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260458	0.80[EUR][1000 genomes]
rs1262432	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12731296	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12736375	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1313568	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1313569	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13374465	0.85[ASN][1000 genomes]
rs1566225	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1694364	0.96[CEU][hapmap]
rs1694379	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1694380	0.96[CEU][hapmap]
rs1694386	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776265	0.84[ASN][1000 genomes]
rs1776270	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1776272	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1815545	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1932934	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs2012751	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2133129	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264417	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2275246	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35705743	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35784258	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3754217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3850844	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4446975	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs4451552	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs471738	0.95[CEU][hapmap]
rs488271	0.96[CEU][hapmap]
rs4926395	0.88[EUR][1000 genomes]
rs4926435	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4970922	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4970963	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4970964	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4970971	0.93[EUR][1000 genomes]
rs4970979	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4971010	0.91[CEU][hapmap]
rs5011187	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs578353	0.95[CEU][hapmap]
rs6664703	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6678973	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6684939	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687311	0.92[AMR][1000 genomes]
rs6699093	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs696615	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs696617	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698913	0.96[CEU][hapmap]
rs698914	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs698917	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs698920	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs698921	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698922	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7411534	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7513182	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513247	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7548085	0.96[CEU][hapmap]
rs8006	0.96[CEU][hapmap]
rs828784	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs832621	0.88[EUR][1000 genomes]
rs834225	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs834234	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs834235	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs834237	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs834238	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs834241	0.82[EUR][1000 genomes]
rs834242	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs863862	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs875514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9436009	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436010	0.81[AMR][1000 genomes]
rs9436116	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436118	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436122	0.87[ASN][1000 genomes]
rs9661040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7553647	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
2	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
7	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
15	chr1:150461600-150473000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:150461600-150473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:150461800-150473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
19	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
20	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:150462400-150473800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
24	chr1:150464000-150475600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
26	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
27	chr1:150464400-150475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:150466000-150477800	Weak transcription	Small Intestine	intestine
30	chr1:150466400-150476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:150467600-150472800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:150468000-150479800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:150468200-150472800	Strong transcription	Esophagus	oesophagus
35	chr1:150468200-150473600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:150468200-150473600	Strong transcription	Fetal Brain Female	brain
37	chr1:150468200-150474000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:150468200-150478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:150468200-150480200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:150468400-150473000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:150468400-150473200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:150468400-150473600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:150468400-150473600	Strong transcription	Colon Smooth Muscle	Colon
44	chr1:150468400-150473800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:150468400-150473800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:150468400-150474200	Strong transcription	Brain Substantia Nigra	brain
47	chr1:150468400-150477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:150468400-150479600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:150468400-150479800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:150468400-150479800	Strong transcription	Fetal Thymus	thymus

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