Variant report

Variant	rs584732
Chromosome Location	chr11:77574605-77574606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77574596..77578176-chr11:77582421..77584641,3	K562	blood:

Variant related genes	Relation type
ENSG00000254459	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs108843	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899396	0.85[ASN][1000 genomes]
rs10899397	0.85[ASN][1000 genomes]
rs10899401	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899414	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237264	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11237279	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12294668	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418931	0.85[ASN][1000 genomes]
rs1783547	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35711367	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570786	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs581807	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582866	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs585172	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585721	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591283	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598933	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs600968	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601551	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs603462	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608389	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608539	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609151	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611671	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611906	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636041	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647235	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649671	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs658398	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs667213	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675925	0.93[AFR][1000 genomes]
rs679155	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs679526	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs685474	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694893	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925289	0.85[ASN][1000 genomes]
rs7929313	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7936105	0.93[ASN][1000 genomes]
rs9667706	0.82[AMR][1000 genomes];0.96[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
rs584732	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	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:77566000-77592600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:77566200-77577000	Weak transcription	Osteobl	bone
4	chr11:77566200-77579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:77566200-77580000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:77566200-77580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:77566200-77580600	Weak transcription	HSMM	muscle
8	chr11:77566200-77582000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:77566200-77582600	Weak transcription	Colonic Mucosa	Colon
10	chr11:77566200-77583200	Weak transcription	Pancreas	Pancrea
11	chr11:77566200-77589000	Weak transcription	NHLF	lung
12	chr11:77566200-77589600	Weak transcription	Esophagus	oesophagus
13	chr11:77566200-77594600	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:77566400-77576200	Weak transcription	NHDF-Ad	bronchial
15	chr11:77566400-77576600	Weak transcription	NH-A	brain
16	chr11:77566400-77582000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:77566400-77582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:77566400-77583000	Weak transcription	Spleen	Spleen
19	chr11:77566600-77580200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:77566800-77574800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:77566800-77580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:77566800-77587800	Weak transcription	A549	lung
23	chr11:77567000-77580600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:77567000-77581800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:77567000-77582600	Weak transcription	HUVEC	blood vessel
26	chr11:77567000-77586600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:77567400-77582600	Weak transcription	Placenta	Placenta
28	chr11:77567600-77577000	Weak transcription	HSMMtube	muscle
29	chr11:77567600-77582600	Weak transcription	Primary T cells from cord blood	blood
30	chr11:77567600-77589600	Weak transcription	HepG2	liver
31	chr11:77567800-77579600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:77567800-77580600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:77567800-77582400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:77567800-77582600	Weak transcription	Primary B cells from cord blood	blood
35	chr11:77567800-77582800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:77567800-77582800	Weak transcription	Fetal Brain Female	brain
37	chr11:77567800-77589400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:77567800-77594800	Weak transcription	Brain Angular Gyrus	brain
39	chr11:77568000-77579800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:77568000-77579800	Weak transcription	Thymus	Thymus
41	chr11:77568000-77580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:77568000-77580400	Weak transcription	Aorta	Aorta
43	chr11:77568000-77580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:77568000-77580600	Weak transcription	GM12878-XiMat	blood
45	chr11:77568000-77580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:77568000-77582400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:77568000-77582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:77568000-77583000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:77568000-77586800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:77568000-77587000	Weak transcription	H1 Cell Line	embryonic stem cell

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