Variant report

Variant	rs2512628
Chromosome Location	chr11:73499567-73499568
allele	A/G
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	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
2	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
3	chr1:144533729..144534624-chr11:73498785..73499576,2	Hela-S3	cervix:
4	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
5	chr11:73087227..73088916-chr11:73498113..73499675,2	K562	blood:
6	chr11:73499069..73499594-chr6:2971292..2971792,2	HCT-116	colon:
7	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
8	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
9	chr11:73497833..73499954-chr17:57783291..57785568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000124570	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000141378	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10751229	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793066	0.83[EUR][1000 genomes]
rs10898946	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235876	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235883	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235884	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12361691	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12788426	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1614987	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632159	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670537	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670540	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670543	0.82[ASN][1000 genomes]
rs1670549	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670557	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670559	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1670562	0.82[ASN][1000 genomes]
rs1670564	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670565	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670570	0.82[ASN][1000 genomes]
rs1670572	0.81[ASN][1000 genomes]
rs1723833	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1723835	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723843	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723848	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792156	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792160	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792161	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792165	0.82[ASN][1000 genomes]
rs1792166	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792174	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792176	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792180	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792183	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792184	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792187	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792193	0.81[ASN][1000 genomes]
rs1792198	0.82[ASN][1000 genomes]
rs2140893	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444603	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2444606	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2462621	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511261	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511270	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511271	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511272	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512625	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512629	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515093	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886816	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4471449	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514449	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548647	0.81[AMR][1000 genomes]
rs4558190	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592533	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7925514	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933372	0.80[ASN][1000 genomes]
rs7938731	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940132	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868667	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2512628	MRPL48	cis	Whole Blood	GTEx
rs2512628	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73498000-73500000	Active TSS	NHDF-Ad	bronchial
2	chr11:73498200-73499600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:73498200-73499600	Active TSS	Fetal Intestine Small	intestine
4	chr11:73498200-73499800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:73498200-73499800	Active TSS	Brain Germinal Matrix	brain
6	chr11:73498200-73499800	Active TSS	Fetal Intestine Large	intestine
7	chr11:73498200-73499800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:73498200-73499800	Active TSS	Fetal Stomach	stomach
9	chr11:73498200-73499800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:73498200-73499800	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:73498200-73500000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:73498200-73500000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:73498200-73500000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:73498200-73500000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:73498200-73500000	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:73498200-73500000	Active TSS	A549	lung
17	chr11:73498200-73500000	Active TSS	HMEC	breast
18	chr11:73498200-73500000	Active TSS	HSMMtube	muscle
19	chr11:73498200-73500200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:73498200-73500200	Active TSS	Colonic Mucosa	Colon
21	chr11:73498200-73500200	Active TSS	K562	blood
22	chr11:73498200-73500200	Active TSS	NHLF	lung
23	chr11:73498400-73499600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:73498400-73499600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:73498400-73499600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:73498400-73499600	Active TSS	Fetal Kidney	kidney
27	chr11:73498400-73499600	Active TSS	Pancreas	Pancrea
28	chr11:73498400-73499600	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr11:73498400-73499600	Active TSS	Small Intestine	intestine
30	chr11:73498400-73499800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:73498400-73499800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:73498400-73499800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:73498400-73499800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:73498400-73499800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr11:73498400-73499800	Active TSS	Esophagus	oesophagus
36	chr11:73498400-73499800	Active TSS	Left Ventricle	heart
37	chr11:73498400-73499800	Active TSS	Ovary	ovary
38	chr11:73498400-73499800	Active TSS	Right Atrium	heart
39	chr11:73498400-73500000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:73498400-73500000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:73498400-73500000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:73498400-73500000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:73498400-73500000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:73498400-73500000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:73498400-73500000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:73498400-73500000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:73498400-73500000	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:73498400-73500000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:73498400-73500000	Active TSS	Psoas Muscle	Psoas
50	chr11:73498400-73500000	Active TSS	Rectal Mucosa Donor 31	rectum

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