Variant report

Variant	rs694893
Chromosome Location	chr11:77563344-77563345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs108843	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899396	0.85[ASN][1000 genomes]
rs10899397	0.85[ASN][1000 genomes]
rs10899401	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899414	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237264	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11237279	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12294668	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418931	0.85[ASN][1000 genomes]
rs1783547	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508184	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35711367	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570786	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs581807	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582866	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584732	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585172	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585721	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591283	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598933	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs600968	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601551	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs603462	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608389	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608539	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611671	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611906	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636041	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647235	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649671	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs658398	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs667213	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679155	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs679526	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs685474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925289	0.85[ASN][1000 genomes]
rs7929313	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7936105	0.93[ASN][1000 genomes]
rs9667706	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694893	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77533400-77565600	Weak transcription	Gastric	stomach
2	chr11:77533400-77565600	Weak transcription	Pancreas	Pancrea
3	chr11:77535400-77565600	Weak transcription	HepG2	liver
4	chr11:77544600-77564400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:77544600-77565400	Weak transcription	Spleen	Spleen
6	chr11:77544800-77564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:77544800-77565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:77547200-77565800	Weak transcription	Fetal Heart	heart
9	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:77550000-77565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:77550800-77564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:77550800-77565400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:77551400-77565400	Weak transcription	Fetal Thymus	thymus
14	chr11:77552200-77563600	Strong transcription	Adipose Nuclei	Adipose
15	chr11:77552200-77565800	Weak transcription	NHLF	lung
16	chr11:77552600-77564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:77552600-77565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:77552600-77565400	Weak transcription	Thymus	Thymus
19	chr11:77553000-77565000	Weak transcription	Right Ventricle	heart
20	chr11:77553000-77565600	Weak transcription	Aorta	Aorta
21	chr11:77553200-77565600	Weak transcription	Psoas Muscle	Psoas
22	chr11:77553800-77565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:77554000-77565400	Weak transcription	NH-A	brain
24	chr11:77554000-77565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:77554800-77565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:77555000-77564400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:77555200-77565400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:77555200-77565600	Weak transcription	Primary B cells from cord blood	blood
29	chr11:77555600-77564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:77555800-77564400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:77555800-77565400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:77555800-77565400	Weak transcription	Lung	lung
33	chr11:77555800-77565600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:77556000-77565600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:77556200-77564000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:77556200-77565400	Weak transcription	Placenta	Placenta
37	chr11:77556200-77565600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:77556200-77565600	Weak transcription	Fetal Brain Male	brain
39	chr11:77556200-77565600	Weak transcription	Fetal Kidney	kidney
40	chr11:77556400-77565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:77556400-77565400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:77556400-77565600	Weak transcription	HSMM	muscle
43	chr11:77556600-77563400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:77556600-77564400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:77556600-77564400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:77556600-77565400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:77556600-77565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:77556600-77565600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:77556600-77565600	Weak transcription	HSMMtube	muscle
50	chr11:77556600-77566000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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