Variant report

Variant	rs1815544
Chromosome Location	chr1:150479901-150479902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150458349..150461509-chr1:150477076..150480525,4	K562	blood:
2	chr1:150477376..150481637-chr1:150532635..150535451,4	K562	blood:
3	chr1:150474284..150478423-chr1:150479020..150481342,4	MCF-7	breast:
4	chr1:150475757..150478254-chr1:150479608..150481543,2	K562	blood:
5	chr1:150477731..150480329-chr1:150524886..150527200,2	K562	blood:
6	chr1:150478979..150480696-chr1:150532672..150534624,2	K562	blood:
7	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:
8	chr1:150476754..150479355-chr1:150479749..150481749,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000264553	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11205385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11577600	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11577843	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11581351	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582423	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11587116	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11587575	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11590324	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11590787	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12023378	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12028001	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12040949	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12042229	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12042579	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12045304	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12046446	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260386	0.81[ASN][1000 genomes]
rs1260388	0.81[ASN][1000 genomes]
rs1260389	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1260411	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1260421	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13294	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1625468	0.82[AMR][1000 genomes]
rs1627235	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1631973	0.84[AMR][1000 genomes]
rs1694362	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1694369	0.80[AMR][1000 genomes]
rs1694385	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17596326	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17597088	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1932934	0.84[ASN][1000 genomes]
rs1972031	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2264418	0.81[ASN][1000 genomes]
rs2794681	0.82[AMR][1000 genomes]
rs2794684	0.81[AMR][1000 genomes]
rs2794685	0.80[AMR][1000 genomes]
rs2867893	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2867894	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2873669	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35057759	0.81[ASN][1000 genomes]
rs3737240	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3738487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3820544	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3896342	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4446975	0.86[ASN][1000 genomes]
rs4451552	0.86[ASN][1000 genomes]
rs45595332	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4926436	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4926437	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4970971	0.86[ASN][1000 genomes]
rs55742549	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55823828	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55928222	0.89[AMR][1000 genomes]
rs55996928	0.86[AMR][1000 genomes]
rs59898460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61819386	0.84[ASN][1000 genomes]
rs6662108	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6672808	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6703652	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696616	0.80[AMR][1000 genomes]
rs698916	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs698919	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs698923	0.87[AMR][1000 genomes]
rs7002	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72696885	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72696900	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7513205	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7523428	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7538981	0.80[ASN][1000 genomes]
rs7539458	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7553867	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs828783	0.84[AMR][1000 genomes]
rs832622	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs834229	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs834230	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs834231	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs834236	0.81[ASN][1000 genomes]
rs844309	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436007	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9436008	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9436112	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436115	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9436119	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9436125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436127	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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
rs1815544	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
5	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
9	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
10	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
11	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:150468200-150480200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:150468400-150480200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:150468400-150480200	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:150468400-150480800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:150468600-150480200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:150468600-150481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:150468600-150481000	Strong transcription	Thymus	Thymus
21	chr1:150468800-150480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:150468800-150483800	Strong transcription	Brain Germinal Matrix	brain
23	chr1:150471600-150480800	Strong transcription	Liver	Liver
24	chr1:150471800-150487400	Weak transcription	Fetal Brain Male	brain
25	chr1:150472400-150480000	Weak transcription	NHDF-Ad	bronchial
26	chr1:150473800-150480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:150474400-150482000	Strong transcription	Primary T cells from cord blood	blood
28	chr1:150474600-150480200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:150474800-150480200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:150474800-150480400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:150475000-150480200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:150475000-150480600	Strong transcription	Dnd41	blood
33	chr1:150475000-150485400	Strong transcription	Fetal Brain Female	brain
34	chr1:150475200-150480200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:150475200-150480800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:150475200-150481000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:150475400-150480200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:150475400-150480200	Strong transcription	Brain Anterior Caudate	brain
39	chr1:150475400-150480600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:150476200-150480000	Strong transcription	Primary B cells from cord blood	blood
41	chr1:150476200-150480200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:150476200-150480200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:150476200-150486200	Strong transcription	Ovary	ovary
44	chr1:150476600-150480000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:150476600-150480400	Strong transcription	Spleen	Spleen
46	chr1:150476600-150481000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr1:150476800-150480200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:150477400-150480400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:150477800-150487400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150478000-150480800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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