Variant report

Variant	rs9705336
Chromosome Location	chr11:73421287-73421288
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: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10793066	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10898930	0.86[AMR][1000 genomes]
rs10898931	0.83[AMR][1000 genomes]
rs10898935	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10898936	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235861	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235862	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235876	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11235883	0.83[EUR][1000 genomes]
rs11235884	0.82[EUR][1000 genomes]
rs11602887	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12420357	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12788426	0.83[EUR][1000 genomes]
rs1404976	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1723848	0.81[EUR][1000 genomes]
rs1792166	0.80[EUR][1000 genomes]
rs2140893	0.83[EUR][1000 genomes]
rs2367187	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2367188	0.86[AMR][1000 genomes]
rs2886816	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7104603	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7119055	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7925514	0.83[EUR][1000 genomes]
rs7933372	0.81[EUR][1000 genomes]
rs7938731	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs868667	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9705336	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:73405000-73421800	Weak transcription	Pancreas	Pancrea
23	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:73405400-73422000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:73405400-73426400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:73408200-73422800	Strong transcription	Osteobl	bone
28	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:73410000-73423000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:73410200-73427400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:73410600-73423400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:73411000-73426400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
37	chr11:73412400-73423000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:73413400-73440400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
40	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
41	chr11:73413800-73422400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:73415000-73425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:73415000-73436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
45	chr11:73415400-73421800	Weak transcription	NHEK	skin
46	chr11:73416000-73423000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73416400-73429600	Weak transcription	Ovary	ovary
48	chr11:73416600-73421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:73416800-73422000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:73417000-73421800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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