Variant report

Variant	rs12793550
Chromosome Location	chr11:73490012-73490013
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73475133..73477274-chr11:73489282..73491741,2	MCF-7	breast:
2	chr11:73470571..73474243-chr11:73488792..73493229,17	K562	blood:
3	chr11:73489641..73491887-chr11:73511276..73514152,2	K562	blood:
4	chr11:73481369..73483674-chr11:73488207..73490492,2	K562	blood:
5	chr11:73489199..73491048-chrX:12966921..12969655,2	MCF-7	breast:
6	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
7	chr11:73469555..73474700-chr11:73488749..73494585,20	MCF-7	breast:
8	chr11:73371040..73373257-chr11:73488206..73490585,3	MCF-7	breast:
9	chr11:73470195..73474536-chr11:73485650..73492680,30	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256034	Chromatin interaction
ENSG00000021300	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 183 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs1051090	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11824294	0.82[ASN][1000 genomes]
rs12262	0.82[ASN][1000 genomes]
rs12786008	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12786020	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12786118	0.84[AMR][1000 genomes]
rs12786752	0.87[AMR][1000 genomes]
rs12787838	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12788929	0.82[ASN][1000 genomes]
rs12789142	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12790445	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12790985	0.82[ASN][1000 genomes]
rs12791140	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12791467	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12791617	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12791811	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12792711	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12793053	0.82[AMR][1000 genomes]
rs12793342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793555	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12793757	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12793826	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12794180	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12794243	0.82[ASN][1000 genomes]
rs12795932	0.84[AMR][1000 genomes]
rs12798393	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12799377	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12799686	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12799720	0.82[ASN][1000 genomes]
rs12799745	0.82[ASN][1000 genomes]
rs12799764	0.82[ASN][1000 genomes]
rs12799849	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12801268	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12801553	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12801713	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12802082	0.82[ASN][1000 genomes]
rs12804010	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12804029	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12804511	0.82[ASN][1000 genomes]
rs12808007	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12808395	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1641	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17132419	0.82[ASN][1000 genomes]
rs17244692	0.82[ASN][1000 genomes]
rs17310423	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34095255	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34217459	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34243263	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34258880	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34302239	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34308910	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34375414	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34433535	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34475888	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34476415	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34481167	0.82[ASN][1000 genomes]
rs34527298	0.82[ASN][1000 genomes]
rs34550191	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34572223	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34578576	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34590823	0.82[ASN][1000 genomes]
rs34659829	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34664984	0.82[ASN][1000 genomes]
rs34671213	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771588	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34793574	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34828254	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34840689	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34932908	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34963286	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35066247	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35079634	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123949	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35130893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35132278	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35208638	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35235512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35248853	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35277500	0.82[ASN][1000 genomes]
rs35314844	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35320080	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35344902	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35349379	0.82[ASN][1000 genomes]
rs35414679	0.82[ASN][1000 genomes]
rs35427699	0.84[EUR][1000 genomes]
rs35455701	0.83[AMR][1000 genomes]
rs35481171	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35506086	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35598792	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35640394	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35645696	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35683504	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35741071	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35749087	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35820405	0.83[AMR][1000 genomes]
rs35852922	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35876082	0.82[ASN][1000 genomes]
rs35905244	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35922896	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35937266	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35945680	0.82[ASN][1000 genomes]
rs35976844	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35991676	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36004107	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36011596	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36034275	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36076594	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3758930	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55677926	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55740271	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55788366	0.83[AMR][1000 genomes]
rs55788830	0.82[ASN][1000 genomes]
rs55798481	0.82[ASN][1000 genomes]
rs55850940	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55987259	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56034488	0.82[ASN][1000 genomes]
rs56159953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321536	0.83[AMR][1000 genomes]
rs57736748	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58199491	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60918915	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6592539	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6592540	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6592541	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7105778	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7113309	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7114340	0.82[ASN][1000 genomes]
rs7119014	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7119242	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7122397	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7123227	0.82[ASN][1000 genomes]
rs7123766	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7124461	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7124674	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464087	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464088	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464089	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464091	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464094	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464095	0.82[ASN][1000 genomes]
rs71464096	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71464098	0.82[ASN][1000 genomes]
rs71464100	0.83[AMR][1000 genomes]
rs71479535	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71479536	0.95[EUR][1000 genomes]
rs71479541	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71479550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479553	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479554	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479555	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479561	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479562	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479563	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479564	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71479565	0.84[AMR][1000 genomes]
rs7924403	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7926479	0.82[ASN][1000 genomes]
rs7926863	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7929572	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7931475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931833	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7932786	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932961	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7937179	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7937252	0.82[ASN][1000 genomes]
rs7938019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940050	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7940614	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7941476	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7944702	0.84[AMR][1000 genomes]
rs7944901	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7944908	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7945614	0.84[AMR][1000 genomes]
rs7945891	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946245	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7948076	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7951088	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7951315	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12793550	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73486400-73490200	Weak transcription	Thymus	Thymus
2	chr11:73487200-73490200	Weak transcription	Right Atrium	heart
3	chr11:73489600-73490200	Enhancers	Stomach Mucosa	stomach
4	chr11:73489600-73490200	Enhancers	HSMM	muscle
5	chr11:73489600-73491000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:73489600-73491400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:73489800-73490200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:73489800-73490200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:73489800-73490200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:73489800-73490200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73489800-73490200	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:73489800-73490200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:73489800-73490200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:73489800-73490200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:73489800-73490200	Enhancers	Liver	Liver
16	chr11:73489800-73490200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr11:73489800-73490200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:73489800-73490200	Enhancers	Fetal Intestine Large	intestine
19	chr11:73489800-73490200	Enhancers	Fetal Intestine Small	intestine
20	chr11:73489800-73490400	Flanking Active TSS	Dnd41	blood
21	chr11:73489800-73490800	Active TSS	Primary hematopoietic stem cells	blood
22	chr11:73489800-73491000	Active TSS	Brain Hippocampus Middle	brain
23	chr11:73489800-73491000	Active TSS	Duodenum Mucosa	Duodenum
24	chr11:73489800-73491000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:73489800-73491000	Active TSS	GM12878-XiMat	blood
26	chr11:73489800-73491200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:73489800-73491200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:73489800-73491200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:73489800-73491200	Active TSS	Fetal Brain Female	brain
30	chr11:73489800-73491400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:73490000-73490200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr11:73490000-73490200	Enhancers	Primary T cells from cord blood	blood
33	chr11:73490000-73490200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:73490000-73490200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:73490000-73490200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:73490000-73490200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:73490000-73490200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:73490000-73490200	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:73490000-73490200	Enhancers	HSMMtube	muscle
40	chr11:73490000-73490200	Active TSS	K562	blood
41	chr11:73490000-73490200	Enhancers	NH-A	brain
42	chr11:73490000-73490200	Enhancers	NHEK	skin
43	chr11:73490000-73490200	Enhancers	NHLF	lung
44	chr11:73490000-73490200	Flanking Active TSS	Osteobl	bone
45	chr11:73490000-73490400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:73490000-73490400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:73490000-73490400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:73490000-73490400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:73490000-73490400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:73490000-73490400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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