Variant report

Variant	rs7933372
Chromosome Location	chr11:73442579-73442580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10751229	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793066	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898935	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898936	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235861	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235862	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235876	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235883	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235884	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11602887	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12361691	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12420357	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12788426	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404976	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1614987	0.81[EUR][1000 genomes]
rs1723835	0.80[ASN][1000 genomes]
rs1723843	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1723848	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792166	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792174	0.80[ASN][1000 genomes]
rs2140893	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2367187	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511261	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2512625	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2512628	0.80[ASN][1000 genomes]
rs2512629	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2886816	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514449	0.80[ASN][1000 genomes]
rs4558190	0.80[ASN][1000 genomes]
rs7104603	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7119055	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7925514	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7938731	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7940132	0.80[ASN][1000 genomes]
rs868667	0.84[EUR][1000 genomes];0.86[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	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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7933372	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs7933372	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
3	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
5	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
8	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
9	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
10	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
11	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
12	chr11:73418200-73443400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:73422400-73443400	Weak transcription	Spleen	Spleen
15	chr11:73422400-73454000	Weak transcription	Gastric	stomach
16	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
17	chr11:73427600-73445600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:73428000-73445600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:73429000-73445400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:73429800-73444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:73429800-73446000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:73430000-73443600	Weak transcription	Ovary	ovary
24	chr11:73430000-73445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:73430000-73446200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73430000-73450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:73430000-73451600	Weak transcription	HSMMtube	muscle
28	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:73430200-73446200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:73430200-73448000	Weak transcription	Lung	lung
31	chr11:73430600-73446000	Weak transcription	NHDF-Ad	bronchial
32	chr11:73430600-73446200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73430600-73446400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:73430600-73446400	Weak transcription	NH-A	brain
35	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:73430600-73462800	Weak transcription	HMEC	breast
38	chr11:73430600-73468800	Weak transcription	NHLF	lung
39	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:73431200-73447800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:73431800-73445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:73432000-73445400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:73432000-73445600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
46	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:73432000-73465200	Weak transcription	NHEK	skin
49	chr11:73432600-73453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:73435400-73448200	Weak transcription	Hela-S3	cervix

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