Variant report

Variant	rs7104794
Chromosome Location	chr11:73538698-73538699
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73531866..73534738-chr11:73536953..73538910,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11235841	0.92[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs11235880	0.86[YRI][hapmap]
rs11235911	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235918	0.81[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235950	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11534587	0.87[EUR][1000 genomes]
rs12277859	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12576616	0.81[YRI][hapmap]
rs1474417	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670536	1.00[ASN][1000 genomes]
rs1792163	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3758932	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758933	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56307666	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5792633	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57974546	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59187119	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60280069	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623653	0.82[JPT][hapmap]
rs66465726	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs667350	0.81[JPT][hapmap]
rs670811	0.92[CHD][hapmap];0.82[JPT][hapmap]
rs7130191	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976884	0.84[ASN][1000 genomes]
rs72982956	0.84[EUR][1000 genomes]
rs72982960	0.83[EUR][1000 genomes]
rs72989216	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989220	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989224	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989263	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924705	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927396	0.88[EUR][1000 genomes]
rs7931143	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937366	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9666440	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7104794	MRPL48	cis	lymphoblastoid	seeQTL
rs7104794	MOGAT2	cis	cerebellum	SCAN
rs7104794	MRPL48	cis	cerebellum	SCAN
rs7104794	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs7104794	MOGAT2	cis	parietal	SCAN
rs7104794	MRPL48	cis	parietal	SCAN
rs7104794	UCP2	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
6	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
7	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:73500600-73549200	Weak transcription	Osteobl	bone
9	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
10	chr11:73500800-73558800	Weak transcription	NHEK	skin
11	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
12	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
13	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
14	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
16	chr11:73508800-73575400	Weak transcription	Gastric	stomach
17	chr11:73509000-73539400	Weak transcription	Ovary	ovary
18	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:73509000-73553200	Weak transcription	Lung	lung
21	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:73516000-73553200	Weak transcription	HepG2	liver
23	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:73518200-73541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:73518400-73541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
29	chr11:73519400-73540400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:73523800-73538800	Weak transcription	K562	blood
33	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:73530200-73538800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:73530200-73540400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:73530200-73541400	Weak transcription	HUVEC	blood vessel
39	chr11:73530200-73542000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:73530400-73549400	Weak transcription	HSMM	muscle
41	chr11:73530600-73539200	Weak transcription	NHDF-Ad	bronchial
42	chr11:73530600-73549200	Weak transcription	NH-A	brain
43	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:73530600-73549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:73530800-73549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:73531000-73540600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:73531000-73549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:73531000-73549600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
50	chr11:73532000-73549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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