Variant report

Variant	rs11986605
Chromosome Location	chr8:55003846-55003847
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	chr8:55003346..55005748-chr8:55012113..55014512,3	MCF-7	breast:
2	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10093311	0.86[AMR][1000 genomes]
rs10093431	0.91[AMR][1000 genomes]
rs10095163	0.86[AMR][1000 genomes]
rs10095164	0.86[AMR][1000 genomes]
rs10096376	0.91[AMR][1000 genomes]
rs10099080	0.91[AMR][1000 genomes]
rs10101289	0.91[AMR][1000 genomes]
rs10102439	0.91[AMR][1000 genomes]
rs10102726	0.86[AMR][1000 genomes]
rs10102905	0.86[AMR][1000 genomes]
rs10112203	0.86[AMR][1000 genomes]
rs1044604	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1112698	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988830	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	0.95[AMR][1000 genomes]
rs11994366	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998659	0.91[AMR][1000 genomes]
rs12115094	1.00[EUR][1000 genomes]
rs16919750	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.91[AMR][1000 genomes]
rs28397021	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	0.86[AMR][1000 genomes]
rs28413072	0.91[AMR][1000 genomes]
rs28507589	0.91[AMR][1000 genomes]
rs28533970	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28565202	0.82[AMR][1000 genomes]
rs28707072	0.95[AMR][1000 genomes]
rs28736685	0.91[AMR][1000 genomes]
rs28759114	0.91[AMR][1000 genomes]
rs55704212	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55781183	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56087054	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56902942	0.87[AMR][1000 genomes]
rs57093383	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58515879	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58595525	0.86[AMR][1000 genomes]
rs59087284	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59114404	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59270026	1.00[EUR][1000 genomes]
rs59277432	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59387379	0.91[AMR][1000 genomes]
rs60186893	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60672236	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.91[AMR][1000 genomes]
rs6473899	0.91[AMR][1000 genomes]
rs6473901	0.95[AMR][1000 genomes]
rs6473902	0.95[AMR][1000 genomes]
rs6473903	0.95[AMR][1000 genomes]
rs6473905	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473910	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981386	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983650	0.95[AMR][1000 genomes]
rs6983958	0.91[AMR][1000 genomes]
rs6984119	0.95[AMR][1000 genomes]
rs6989211	0.91[AMR][1000 genomes]
rs6992073	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7001391	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003793	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.86[AMR][1000 genomes]
rs7005653	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.91[AMR][1000 genomes]
rs7007031	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	0.91[AMR][1000 genomes]
rs7008593	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011032	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014036	0.86[AMR][1000 genomes]
rs7016108	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.86[AMR][1000 genomes]
rs7018355	0.91[AMR][1000 genomes]
rs73589273	0.91[AMR][1000 genomes]
rs73589286	0.91[AMR][1000 genomes]
rs73589295	0.91[AMR][1000 genomes]
rs73679588	0.95[AMR][1000 genomes]
rs73679589	0.95[AMR][1000 genomes]
rs73679596	0.95[AMR][1000 genomes]
rs73679602	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681308	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681309	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681805	0.95[AMR][1000 genomes]
rs73681806	0.95[AMR][1000 genomes]
rs7815998	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822750	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.95[AMR][1000 genomes]
rs7824355	0.91[AMR][1000 genomes]
rs7824979	0.95[AMR][1000 genomes]
rs7833336	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834757	0.91[AMR][1000 genomes]
rs7836760	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839276	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844291	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844299	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7846650	0.91[AMR][1000 genomes]
rs9771960	0.91[AMR][1000 genomes]
rs9918912	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
4	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:54992000-55006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:54995600-55007000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:54996000-55008800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr8:54997400-55005000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
12	chr8:54998600-55004600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr8:54999000-55004800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54999000-55005800	ZNF genes & repeats	Dnd41	blood
15	chr8:54999000-55006200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:54999200-55006400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
18	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
19	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
20	chr8:55000000-55006800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:55000000-55006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:55000000-55008200	Weak transcription	Adipose Nuclei	Adipose
23	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:55000200-55004400	Weak transcription	Left Ventricle	heart
25	chr8:55000200-55004400	Weak transcription	Spleen	Spleen
26	chr8:55000200-55004600	Weak transcription	Esophagus	oesophagus
27	chr8:55000200-55005600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:55000200-55005600	Weak transcription	Right Ventricle	heart
29	chr8:55000200-55005600	Weak transcription	HSMM	muscle
30	chr8:55000200-55005800	Weak transcription	Hela-S3	cervix
31	chr8:55000200-55005800	Weak transcription	HepG2	liver
32	chr8:55000200-55006800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:55000200-55006800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:55000200-55009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:55000200-55009800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:55000200-55010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:55000200-55010400	Weak transcription	Lung	lung
38	chr8:55000200-55011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:55000200-55011400	Weak transcription	NH-A	brain
40	chr8:55000200-55011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:55000200-55011800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:55000200-55012600	Weak transcription	Osteobl	bone
43	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
48	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
49	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:55000200-55013400	Weak transcription	Ovary	ovary

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