Variant report

Variant	rs7548085
Chromosome Location	chr1:150439038-150439039
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150437945..150439711-chr1:150523835..150525505,2	K562	blood:
2	chr1:150436291..150439711-chr1:150521012..150525505,5	K562	blood:
3	chr1:150414099..150416385-chr1:150437324..150439475,2	MCF-7	breast:
4	chr1:150437019..150439669-chr1:150458678..150461426,2	MCF-7	breast:
5	chr1:150438167..150440380-chr1:150446055..150448397,2	K562	blood:
6	chr1:150438878..150440881-chr1:150449500..150452066,3	K562	blood:

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

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10157197	0.95[CEU][hapmap]
rs10788874	0.82[YRI][hapmap]
rs10888578	0.95[CEU][hapmap]
rs10888579	0.95[CEU][hapmap]
rs10888582	0.81[YRI][hapmap]
rs10888584	0.96[CEU][hapmap]
rs11205357	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs11205373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs11205382	1.00[CEU][hapmap]
rs11205385	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11577600	0.83[ASN][1000 genomes]
rs11577843	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11580810	0.81[YRI][hapmap]
rs11581351	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11582423	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs11587116	0.85[ASN][1000 genomes]
rs11587575	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11590324	0.84[ASN][1000 genomes]
rs11590787	0.82[ASN][1000 genomes]
rs12023378	0.85[ASN][1000 genomes]
rs12028001	0.83[ASN][1000 genomes]
rs12029359	0.84[CHB][hapmap]
rs12040949	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12042229	0.86[ASN][1000 genomes]
rs12042579	0.84[ASN][1000 genomes]
rs12045304	0.82[ASN][1000 genomes]
rs12046446	0.85[ASN][1000 genomes]
rs12046899	0.84[CHB][hapmap]
rs12049177	0.96[CEU][hapmap]
rs1260367	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1260385	1.00[CEU][hapmap]
rs1260386	0.82[ASN][1000 genomes]
rs1260388	0.82[ASN][1000 genomes]
rs1260389	0.82[ASN][1000 genomes]
rs1260407	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1260411	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1260421	0.82[ASN][1000 genomes]
rs1260457	1.00[CEU][hapmap]
rs1260458	0.80[ASN][1000 genomes]
rs1260459	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs12731296	1.00[CEU][hapmap]
rs1313568	1.00[CEU][hapmap]
rs1313570	0.80[ASN][1000 genomes]
rs13294	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1498308	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1566225	1.00[CEU][hapmap]
rs1625468	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1627235	0.82[ASN][1000 genomes]
rs1694362	0.82[ASN][1000 genomes]
rs1694364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1694377	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1694379	0.95[CEU][hapmap]
rs1694380	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1694385	0.82[ASN][1000 genomes]
rs1694390	0.82[ASN][1000 genomes]
rs17596326	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17597088	0.84[ASN][1000 genomes]
rs1776273	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1932934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs1972031	0.87[ASN][1000 genomes]
rs2147324	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2264417	1.00[CEU][hapmap]
rs2264418	0.82[ASN][1000 genomes]
rs2274127	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2794679	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2794681	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2867893	0.85[ASN][1000 genomes]
rs2867894	0.85[ASN][1000 genomes]
rs2873669	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35057759	0.82[ASN][1000 genomes]
rs3737240	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs3738487	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3754214	0.96[CEU][hapmap]
rs3754217	0.95[CEU][hapmap]
rs3818978	0.91[CEU][hapmap]
rs3820544	0.85[ASN][1000 genomes]
rs3862206	0.81[YRI][hapmap]
rs3896342	0.85[ASN][1000 genomes]
rs4446975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs4451552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs45595332	0.85[ASN][1000 genomes]
rs4581308	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs471738	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs486275	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs488271	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4926394	0.84[ASN][1000 genomes]
rs4926395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs4926436	0.85[ASN][1000 genomes]
rs4926437	0.87[ASN][1000 genomes]
rs4970922	1.00[CEU][hapmap]
rs4970964	1.00[CEU][hapmap]
rs4970971	0.87[ASN][1000 genomes]
rs4971010	0.87[CEU][hapmap]
rs509345	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs543179	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs55742549	0.82[ASN][1000 genomes]
rs55823828	0.85[ASN][1000 genomes]
rs578353	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs61819386	0.85[ASN][1000 genomes]
rs6662108	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6664703	1.00[CEU][hapmap]
rs6672808	0.85[ASN][1000 genomes]
rs6703652	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs696615	1.00[CEU][hapmap]
rs696616	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs696618	0.92[JPT][hapmap]
rs698913	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs698914	1.00[CEU][hapmap]
rs698916	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs698919	0.82[ASN][1000 genomes]
rs698921	1.00[CEU][hapmap]
rs698923	0.80[ASN][1000 genomes]
rs7002	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs72696885	0.85[ASN][1000 genomes]
rs72696900	0.85[ASN][1000 genomes]
rs7411534	1.00[CEU][hapmap]
rs7512552	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs7513182	1.00[CEU][hapmap]
rs7513205	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7517441	1.00[JPT][hapmap]
rs7523428	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7538981	0.81[ASN][1000 genomes]
rs7539458	0.87[ASN][1000 genomes]
rs7542068	0.80[YRI][hapmap]
rs7544900	0.96[CEU][hapmap]
rs7553647	0.96[CEU][hapmap]
rs7553867	0.84[ASN][1000 genomes]
rs7554686	0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs8006	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs832621	0.84[ASN][1000 genomes]
rs832622	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834225	1.00[CEU][hapmap]
rs834229	0.82[ASN][1000 genomes]
rs834230	0.82[ASN][1000 genomes]
rs834231	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834232	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs834234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs834235	1.00[CEU][hapmap]
rs834236	0.82[ASN][1000 genomes]
rs834237	1.00[CEU][hapmap]
rs834238	1.00[CEU][hapmap]
rs834241	0.84[ASN][1000 genomes]
rs834242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs844309	0.82[ASN][1000 genomes]
rs875514	0.96[CEU][hapmap]
rs9126	0.96[CEU][hapmap]
rs9436007	0.85[ASN][1000 genomes]
rs9436008	0.87[ASN][1000 genomes]
rs9436009	1.00[CEU][hapmap]
rs9436108	0.80[ASN][1000 genomes]
rs9436112	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9436115	0.87[ASN][1000 genomes]
rs9436119	0.85[ASN][1000 genomes]
rs9436127	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs9661040	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7548085	MRPS21	cis	Heart Left Ventricle	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	chr1:150414200-150440800	Strong transcription	Fetal Intestine Large	intestine
11	chr1:150414400-150442200	Weak transcription	Fetal Heart	heart
12	chr1:150419200-150441000	Weak transcription	HMEC	breast
13	chr1:150419200-150442200	Weak transcription	NH-A	brain
14	chr1:150419200-150443200	Weak transcription	Psoas Muscle	Psoas
15	chr1:150422800-150446400	Strong transcription	Fetal Stomach	stomach
16	chr1:150423800-150447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:150424800-150446600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:150425200-150446200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:150425800-150445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:150425800-150445800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:150425800-150447000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:150426800-150446400	Strong transcription	Fetal Intestine Small	intestine
23	chr1:150428400-150443200	Weak transcription	Small Intestine	intestine
24	chr1:150428600-150446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:150429000-150442600	Weak transcription	Stomach Mucosa	stomach
26	chr1:150429600-150439800	Strong transcription	Adipose Nuclei	Adipose
27	chr1:150429600-150440400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:150429600-150447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:150429800-150440600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:150430000-150442600	Weak transcription	Colonic Mucosa	Colon
31	chr1:150430400-150443000	Weak transcription	NHLF	lung
32	chr1:150430600-150442200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:150431000-150443000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:150431400-150442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:150431400-150443000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:150431800-150439200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:150432200-150443200	Weak transcription	Esophagus	oesophagus
38	chr1:150432400-150439200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:150432600-150443200	Weak transcription	Fetal Brain Male	brain
40	chr1:150432800-150441400	Weak transcription	NHEK	skin
41	chr1:150432800-150442200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:150432800-150442200	Weak transcription	HSMMtube	muscle
43	chr1:150432800-150442600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:150432800-150442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:150432800-150443200	Weak transcription	HUVEC	blood vessel
46	chr1:150433000-150439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:150433000-150439400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:150433000-150443200	Weak transcription	Osteobl	bone
49	chr1:150433200-150443200	Weak transcription	Right Ventricle	heart
50	chr1:150433400-150440200	Weak transcription	Left Ventricle	heart

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