Variant report

Variant	rs11205382
Chromosome Location	chr1:150442466-150442467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150441844..150444359-chr1:150457441..150459978,2	K562	blood:
2	chr1:150336155..150338695-chr1:150442389..150444499,2	MCF-7	breast:
3	chr1:150439239..150440819-chr1:150442245..150443762,2	K562	blood:
4	chr1:150441500..150444519-chr1:150520739..150524662,4	K562	blood:
5	chr1:150439942..150442505-chr1:150446832..150450419,3	MCF-7	breast:
6	chr1:150442421..150445048-chr1:150451034..150454000,2	K562	blood:

Variant related genes	Relation type
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000264553	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10157197	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs10788873	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10888578	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10888579	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10888583	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888584	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097066	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097069	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1097071	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205359	0.80[EUR][1000 genomes]
rs11205370	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205371	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205373	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11205375	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205384	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205387	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11581786	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590406	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12023277	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031973	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12049177	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12093148	0.82[AMR][1000 genomes]
rs1260373	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260385	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260398	0.80[EUR][1000 genomes]
rs1260401	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1260403	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260404	0.81[EUR][1000 genomes]
rs1260407	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1260408	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260409	0.80[EUR][1000 genomes]
rs1260419	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260420	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260424	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260458	0.88[EUR][1000 genomes]
rs1262432	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12731296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12736375	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313569	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313570	0.85[EUR][1000 genomes]
rs13374465	0.90[ASN][1000 genomes]
rs1566225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694364	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1694379	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1694380	1.00[CEU][hapmap]
rs1694386	0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694390	0.84[EUR][1000 genomes]
rs1776265	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1776270	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1776272	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1776273	1.00[CEU][hapmap]
rs1815545	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1932934	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2012751	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133129	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2264417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275246	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35705743	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35784258	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754214	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754217	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818978	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs3850844	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446975	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4451552	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs471738	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs488271	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4926394	0.87[EUR][1000 genomes]
rs4926395	0.96[EUR][1000 genomes]
rs4926435	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4970963	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4970964	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4970971	0.94[EUR][1000 genomes]
rs4970979	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971010	0.87[CEU][hapmap]
rs5011187	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs509345	0.81[CEU][hapmap]
rs543179	0.80[EUR][1000 genomes]
rs578353	1.00[CEU][hapmap]
rs580159	0.80[EUR][1000 genomes]
rs61819386	0.80[EUR][1000 genomes]
rs6664703	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678973	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6684939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687311	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696617	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698913	1.00[CEU][hapmap]
rs698914	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs698917	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs698920	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs698921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698922	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7411534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7513182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513247	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7544900	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7548085	1.00[CEU][hapmap]
rs7553647	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]
rs7554686	0.91[CEU][hapmap]
rs8006	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs828784	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs832621	0.96[EUR][1000 genomes]
rs834225	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs834234	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs834235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834241	0.89[EUR][1000 genomes]
rs834242	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs834243	0.85[EUR][1000 genomes]
rs863862	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs875514	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9126	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs9436009	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436116	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436118	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436120	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436122	0.82[ASN][1000 genomes]
rs9661040	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];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	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
rs11205382	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150373200-150442800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150383400-150443200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:150401400-150448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150411200-150446400	Strong transcription	Dnd41	blood
5	chr1:150412000-150443000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:150413600-150446200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:150413600-150446400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:150413800-150446000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:150414000-150446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:150419200-150443200	Weak transcription	Psoas Muscle	Psoas
11	chr1:150422800-150446400	Strong transcription	Fetal Stomach	stomach
12	chr1:150423800-150447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:150424800-150446600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:150425200-150446200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:150425800-150445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:150425800-150445800	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:150425800-150447000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:150426800-150446400	Strong transcription	Fetal Intestine Small	intestine
19	chr1:150428400-150443200	Weak transcription	Small Intestine	intestine
20	chr1:150428600-150446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150429000-150442600	Weak transcription	Stomach Mucosa	stomach
22	chr1:150429600-150447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:150430000-150442600	Weak transcription	Colonic Mucosa	Colon
24	chr1:150430400-150443000	Weak transcription	NHLF	lung
25	chr1:150431000-150443000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:150431400-150442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:150431400-150443000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:150432200-150443200	Weak transcription	Esophagus	oesophagus
29	chr1:150432600-150443200	Weak transcription	Fetal Brain Male	brain
30	chr1:150432800-150442600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:150432800-150442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:150432800-150443200	Weak transcription	HUVEC	blood vessel
33	chr1:150433000-150443200	Weak transcription	Osteobl	bone
34	chr1:150433200-150443200	Weak transcription	Right Ventricle	heart
35	chr1:150433400-150443000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:150433800-150446400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:150434200-150444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:150434800-150443000	Weak transcription	Spleen	Spleen
39	chr1:150435200-150446600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:150435200-150447200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:150435600-150446400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:150435800-150442800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:150435800-150443000	Weak transcription	Gastric	stomach
44	chr1:150435800-150443200	Weak transcription	Aorta	Aorta
45	chr1:150435800-150443200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:150436200-150447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:150436800-150446600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:150437200-150446400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:150437400-150447200	Strong transcription	Fetal Thymus	thymus
50	chr1:150437600-150443200	Weak transcription	Pancreas	Pancrea

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