Variant report

Variant	rs2511261
Chromosome Location	chr11:73492563-73492564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73490742..73492962-chr11:73586410..73589889,4	MCF-7	breast:
2	chr11:73470571..73474243-chr11:73488792..73493229,17	K562	blood:
3	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
4	chr11:73451087..73453360-chr11:73490800..73493155,2	MCF-7	breast:
5	chr11:73469555..73474700-chr11:73488749..73494585,20	MCF-7	breast:
6	chr11:73491571..73493829-chr11:73529458..73531127,2	K562	blood:
7	chr11:73470195..73474536-chr11:73485650..73492680,30	MCF-7	breast:

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

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10751229	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793066	0.85[EUR][1000 genomes]
rs10898935	0.82[EUR][1000 genomes]
rs10898936	0.82[EUR][1000 genomes]
rs10898946	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235861	0.82[EUR][1000 genomes]
rs11235862	0.82[EUR][1000 genomes]
rs11235876	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235883	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235884	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11602887	0.82[EUR][1000 genomes]
rs12361691	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420357	0.82[EUR][1000 genomes]
rs12788426	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1404976	0.82[EUR][1000 genomes]
rs1614987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632159	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670537	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670540	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670543	0.82[ASN][1000 genomes]
rs1670549	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670557	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670559	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1670562	0.82[ASN][1000 genomes]
rs1670564	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670565	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670570	0.82[ASN][1000 genomes]
rs1670572	0.81[ASN][1000 genomes]
rs1723833	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1723835	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723848	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792156	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792160	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792161	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792165	0.82[ASN][1000 genomes]
rs1792166	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792176	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792180	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792183	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792184	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792187	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792193	0.81[ASN][1000 genomes]
rs1792198	0.82[ASN][1000 genomes]
rs2140893	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2367187	0.81[EUR][1000 genomes]
rs2444603	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2444606	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2462621	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];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511271	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511272	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512628	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515093	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886816	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4471449	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514449	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548647	0.83[AMR][1000 genomes]
rs4558190	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592533	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7104603	0.82[EUR][1000 genomes]
rs7119055	0.82[EUR][1000 genomes]
rs7925514	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933372	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7938731	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940132	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv972043	chr11:73492210-73493193	Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2511261	MRPL48	cis	Whole Blood	GTEx
rs2511261	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs2511261	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73494600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:73491000-73495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
4	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
5	chr11:73491200-73494200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:73491200-73494200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:73491200-73494400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:73491200-73494800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:73491200-73495200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:73491200-73497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:73491200-73498000	Weak transcription	A549	lung
15	chr11:73491200-73498000	Weak transcription	HSMM	muscle
16	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
20	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:73491400-73494000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:73491400-73494200	Weak transcription	HepG2	liver
23	chr11:73491400-73494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73491400-73494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:73491400-73495000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73491400-73495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:73491400-73495000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:73491400-73495000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:73491400-73495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:73491400-73495200	Weak transcription	NHEK	skin
31	chr11:73491400-73495400	Weak transcription	Fetal Thymus	thymus
32	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
37	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:73491600-73494800	Weak transcription	Hela-S3	cervix
39	chr11:73491800-73494800	Weak transcription	Dnd41	blood
40	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:73492200-73494200	Weak transcription	K562	blood
42	chr11:73492200-73495400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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