Variant report

Variant	rs7119055
Chromosome Location	chr11:73417672-73417673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73415553..73417778-chr11:73420155..73422839,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10793065	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs10793066	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898930	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898938	0.87[TSI][hapmap];1.00[YRI][hapmap]
rs11235861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235862	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235883	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235884	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11602887	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12788229	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12788426	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1404976	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1525749	0.85[CEU][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs1614987	0.82[EUR][1000 genomes]
rs1632159	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
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];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs1670543	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs1670557	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs1670564	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1670565	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1723848	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]
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];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs1792160	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1792165	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1792166	0.82[EUR][1000 genomes];0.82[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1792193	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1792198	0.92[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2367187	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367188	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2462621	0.80[EUR][1000 genomes]
rs2511261	0.82[EUR][1000 genomes]
rs2886816	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817514	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3862797	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4514449	0.80[EUR][1000 genomes]
rs7104603	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925514	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933372	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7938731	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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];1.00[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]
rs9705336	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv975363	chr11:73411321-73426936	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7119055	MRPL48	cis	lymphoblastoid	seeQTL
rs7119055	PAAF1	cis	lymphoblastoid	seeQTL
rs7119055	RNF121	cis	cerebellum	SCAN
rs7119055	MRPL48	cis	cerebellum	SCAN
rs7119055	PLEKHB1	cis	parietal	SCAN
rs7119055	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
3	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
4	chr11:73382400-73421600	Weak transcription	Gastric	stomach
5	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
6	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
9	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
11	chr11:73390800-73429600	Weak transcription	NHLF	lung
12	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
17	chr11:73400600-73421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:73400800-73422000	Weak transcription	Spleen	Spleen
19	chr11:73402000-73422200	Weak transcription	Hela-S3	cervix
20	chr11:73404400-73420200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:73404800-73420400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:73405000-73421800	Weak transcription	Pancreas	Pancrea
25	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:73405400-73422000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:73405400-73426400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73406400-73418600	Strong transcription	Placenta	Placenta
29	chr11:73406400-73419000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:73407800-73418800	Strong transcription	Liver	Liver
32	chr11:73408200-73422800	Strong transcription	Osteobl	bone
33	chr11:73409600-73419400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:73410000-73418400	Strong transcription	Fetal Stomach	stomach
36	chr11:73410000-73419400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:73410000-73419600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:73410000-73423000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:73410200-73418800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:73410200-73419000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:73410200-73421000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:73410200-73427400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:73410400-73419000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:73410600-73418800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:73410600-73418800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:73410600-73419000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:73410600-73423400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:73411000-73426400	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links