Variant report

Variant	rs17080466
Chromosome Location	chr6:118989438-118989439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:118989329-118989521	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118985710..118987649-chr6:118989150..118991916,2	K562	blood:
2	chr6:118988856..118991483-chr6:119002572..119005083,2	K562	blood:
3	chr6:118987546..118990459-chr6:118992070..118994560,4	K562	blood:
4	chr6:118988812..118990874-chr6:118994587..118996786,2	K562	blood:
5	chr6:118989304..118991119-chr6:118993806..118996108,2	K562	blood:

No data

Variant related genes	Relation type
CEP85L	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10484289	0.90[YRI][hapmap]
rs17080257	0.90[YRI][hapmap]
rs17080282	0.90[YRI][hapmap]
rs17080307	0.90[YRI][hapmap]
rs17080321	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs17080325	0.85[AFR][1000 genomes]
rs17080419	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080446	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080474	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080525	1.00[AMR][1000 genomes]
rs1998482	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs56689315	0.85[AFR][1000 genomes]
rs57378443	1.00[AMR][1000 genomes]
rs59858756	1.00[AMR][1000 genomes]
rs60456335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61344747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61408707	1.00[AMR][1000 genomes]
rs73515223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515228	0.91[AFR][1000 genomes]
rs73515253	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515256	1.00[AMR][1000 genomes]
rs73515264	1.00[AMR][1000 genomes]
rs73515274	1.00[AMR][1000 genomes]
rs73515281	1.00[AMR][1000 genomes]
rs73526173	0.85[AFR][1000 genomes]
rs73526183	0.85[AFR][1000 genomes]
rs73526192	0.85[AFR][1000 genomes]
rs73528704	0.85[AFR][1000 genomes]
rs73528766	1.00[AMR][1000 genomes]
rs73528768	1.00[AMR][1000 genomes]
rs73528773	1.00[AMR][1000 genomes]
rs73528783	1.00[AMR][1000 genomes]
rs73528784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528786	1.00[AMR][1000 genomes]
rs73530804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs735920	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118978200-118989800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:118981600-118989600	Weak transcription	Left Ventricle	heart
3	chr6:118983600-118990200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:118986400-118989600	Weak transcription	Fetal Thymus	thymus
5	chr6:118986400-118990000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:118986400-118990200	Weak transcription	HMEC	breast
7	chr6:118986400-118990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:118986400-118991400	Enhancers	Psoas Muscle	Psoas
9	chr6:118986400-118991800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:118986400-118992200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:118986400-118992400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:118986400-118992400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:118986400-118994800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:118986400-118995000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:118986400-118995400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:118986400-119001800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:118986800-118990000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:118986800-118990800	Weak transcription	Gastric	stomach
19	chr6:118987000-118993000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:118988000-118991000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:118988000-118991000	Enhancers	Fetal Lung	lung
22	chr6:118988200-118989600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:118988200-118991400	Enhancers	NHLF	lung
24	chr6:118988400-118989600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:118988400-118990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:118988400-118990600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:118988400-118990600	Enhancers	Osteobl	bone
28	chr6:118988400-118990800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:118988400-118991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:118988600-118990600	Enhancers	NHDF-Ad	bronchial
31	chr6:118988800-118990600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:118988800-118990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:118988800-118990600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:118988800-118990800	Enhancers	NH-A	brain
35	chr6:118988800-118991000	Enhancers	Stomach Mucosa	stomach
36	chr6:118988800-118991000	Enhancers	HSMM	muscle
37	chr6:118988800-118991200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:118988800-118991200	Enhancers	Fetal Stomach	stomach
39	chr6:118988800-118991800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:118989000-118989600	Enhancers	HSMMtube	muscle
41	chr6:118989000-118990000	Enhancers	K562	blood
42	chr6:118989000-118990600	Enhancers	Hela-S3	cervix
43	chr6:118989000-118991000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:118989200-118990400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:118989200-118991200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:118989200-118992600	Genic enhancers	Primary T cells from cord blood	blood
47	chr6:118989400-118989800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:118989400-118990600	Enhancers	Small Intestine	intestine
49	chr6:118989400-118991000	Enhancers	Adipose Nuclei	Adipose
50	chr6:118989400-118991200	Strong transcription	Primary B cells from cord blood	blood

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