Variant report

Variant	rs2462621
Chromosome Location	chr11:73500725-73500726
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	chr11:73499930..73501877-chr11:73512932..73514861,2	K562	blood:
2	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
3	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
4	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
5	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
6	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
7	chr11:73460588..73463115-chr11:73499675..73501520,2	MCF-7	breast:
8	chr11:73499890..73502819-chr11:73563148..73564749,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10751229	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793066	0.83[EUR][1000 genomes]
rs10898946	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235876	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235883	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235884	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11602887	0.80[EUR][1000 genomes]
rs12361691	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12788426	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1404976	0.80[EUR][1000 genomes]
rs1614987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632159	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670537	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1670540	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1670543	0.81[ASN][1000 genomes]
rs1670549	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670557	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670559	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670562	0.82[ASN][1000 genomes]
rs1670564	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1670565	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1670570	0.81[ASN][1000 genomes]
rs1670572	0.80[ASN][1000 genomes]
rs1723833	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1723835	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723848	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792156	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792160	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792161	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792165	0.81[ASN][1000 genomes]
rs1792166	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792176	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1792180	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792183	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792184	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792187	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792193	0.81[ASN][1000 genomes]
rs1792198	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2140893	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2444603	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2444606	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511271	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511272	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512628	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515093	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886816	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4471449	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4548647	0.83[AMR][1000 genomes]
rs4558190	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6592533	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7119055	0.80[EUR][1000 genomes]
rs7925514	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7938731	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940132	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs868667	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2462621	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs2462621	MRPL48	cis	multi-tissue	Pritchard
rs2462621	MRPL48	cis	Whole Blood	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499400-73507000	Weak transcription	Gastric	stomach
2	chr11:73499400-73507000	Weak transcription	Lung	lung
3	chr11:73499400-73507000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73499400-73507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:73499600-73500800	Flanking Active TSS	Dnd41	blood
6	chr11:73499600-73502800	Weak transcription	Stomach Mucosa	stomach
7	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
10	chr11:73499800-73501000	Enhancers	Fetal Intestine Large	intestine
11	chr11:73499800-73504800	Weak transcription	Fetal Stomach	stomach
12	chr11:73499800-73507000	Weak transcription	Esophagus	oesophagus
13	chr11:73499800-73507000	Weak transcription	Spleen	Spleen
14	chr11:73499800-73507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73499800-73507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:73499800-73507200	Weak transcription	Ovary	ovary
17	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:73500000-73500800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr11:73500000-73500800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:73500000-73500800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:73500000-73500800	Flanking Active TSS	A549	lung
22	chr11:73500000-73500800	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:73500000-73502800	Weak transcription	Brain Germinal Matrix	brain
24	chr11:73500000-73503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:73500000-73503400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:73500000-73507000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:73500000-73507000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:73500000-73507000	Weak transcription	Thymus	Thymus
29	chr11:73500000-73507200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:73500000-73507600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:73500000-73516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:73500000-73518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:73500000-73519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:73500200-73500800	Enhancers	Fetal Brain Female	brain
37	chr11:73500200-73500800	Enhancers	HepG2	liver
38	chr11:73500200-73502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:73500200-73503000	Weak transcription	Left Ventricle	heart
40	chr11:73500200-73503200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:73500200-73503200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:73500200-73507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:73500200-73507000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:73500200-73507000	Weak transcription	Fetal Thymus	thymus
45	chr11:73500200-73507200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:73500200-73507200	Weak transcription	Adipose Nuclei	Adipose
47	chr11:73500200-73507200	Weak transcription	Pancreas	Pancrea
48	chr11:73500200-73507400	Weak transcription	Placenta	Placenta
49	chr11:73500200-73507400	Weak transcription	Right Atrium	heart
50	chr11:73500200-73508200	Weak transcription	Primary B cells from peripheral blood	blood

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