Variant report

Variant	rs1723848
Chromosome Location	chr11:73462758-73462759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73462463..73463972-chr11:73465902..73467482,2	K562	blood:
2	chr11:73458899..73465006-chr11:73467540..73472378,9	K562	blood:
3	chr11:73461170..73462762-chr11:73468123..73470222,2	MCF-7	breast:
4	chr11:73460588..73463115-chr11:73499675..73501520,2	MCF-7	breast:
5	chr11:73458119..73460302-chr11:73461277..73464181,2	K562	blood:
6	chr11:73459700..73464671-chr11:73465982..73472131,6	K562	blood:
7	chr11:73421710..73424009-chr11:73461398..73464221,2	K562	blood:

Variant related genes	Relation type
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10751229	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793065	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10793066	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793067	0.92[ASW][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs10898931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10898935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10898936	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10898938	0.87[TSI][hapmap];1.00[YRI][hapmap]
rs10898946	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11235861	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235862	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235876	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235883	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235884	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602887	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12361691	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12788426	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1404976	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1525749	0.85[CEU][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs1614987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1632159	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1670537	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670540	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670543	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs1670549	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670557	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs1670559	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1670564	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670565	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1723833	0.83[AMR][1000 genomes]
rs1723835	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1723843	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1792156	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792160	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792161	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792165	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1792166	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792174	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792176	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792180	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792183	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1792184	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1792187	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1792193	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1792198	0.92[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2008734	0.85[CEU][hapmap]
rs2140893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367187	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2462621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511270	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2511271	0.85[ASN][1000 genomes]
rs2511272	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512628	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515093	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886816	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817514	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3862797	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4471449	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514449	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4548647	0.83[AMR][1000 genomes]
rs4558190	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592533	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7104603	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7119055	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7925514	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7933372	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7938731	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7940132	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs868667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9705336	0.81[EUR][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	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1723848	MRPL48	cis	cerebellum	SCAN
rs1723848	PLEKHB1	cis	parietal	SCAN
rs1723848	RNF121	cis	cerebellum	SCAN
rs1723848	MRPL48	cis	lymphoblastoid	seeQTL
rs1723848	PAAF1	cis	lymphoblastoid	seeQTL
rs1723848	MRPL48	cis	multi-tissue	Pritchard
rs1723848	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
4	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:73430600-73462800	Weak transcription	HMEC	breast
7	chr11:73430600-73468800	Weak transcription	NHLF	lung
8	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:73432000-73465200	Weak transcription	NHEK	skin
11	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
14	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:73441200-73468600	Weak transcription	Dnd41	blood
16	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:73442200-73469600	Weak transcription	HSMM	muscle
18	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
19	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
22	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:73447000-73463800	Weak transcription	NH-A	brain
24	chr11:73447800-73463200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:73448200-73468600	Weak transcription	GM12878-XiMat	blood
26	chr11:73448800-73462800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:73448800-73468800	Weak transcription	Fetal Brain Female	brain
28	chr11:73449000-73464800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:73449400-73468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:73449600-73469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:73450000-73463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:73450000-73463200	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:73451400-73468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:73451600-73468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:73454800-73462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:73454800-73462800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:73454800-73465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:73455200-73465000	Weak transcription	Stomach Mucosa	stomach
39	chr11:73456400-73469000	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:73457000-73467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:73458200-73462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:73458200-73463200	Weak transcription	Left Ventricle	heart
43	chr11:73459000-73469600	Weak transcription	K562	blood
44	chr11:73459400-73464800	Weak transcription	Hela-S3	cervix
45	chr11:73459400-73465200	Weak transcription	A549	lung
46	chr11:73459600-73468400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:73459800-73468800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:73460400-73464400	Enhancers	Brain Angular Gyrus	brain
49	chr11:73460600-73465800	Enhancers	Placenta	Placenta
50	chr11:73460600-73466000	Genic enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links