Variant report

Variant	rs17080419
Chromosome Location	chr6:118960459-118960460
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	chr6:118958389..118960961-chr6:118962868..118964919,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484289	1.00[YRI][hapmap]
rs1317073	0.82[YRI][hapmap]
rs17080257	1.00[YRI][hapmap]
rs17080282	1.00[YRI][hapmap]
rs17080291	0.82[YRI][hapmap]
rs17080304	0.80[YRI][hapmap]
rs17080307	1.00[YRI][hapmap]
rs17080321	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17080325	0.90[AFR][1000 genomes]
rs17080446	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080466	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]
rs17080469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080474	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080525	1.00[AMR][1000 genomes]
rs1998482	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs56689315	0.90[AFR][1000 genomes]
rs57378443	1.00[AMR][1000 genomes]
rs59858756	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60456335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61344747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61408707	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515228	0.86[AFR][1000 genomes]
rs73515253	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	0.90[AFR][1000 genomes]
rs73526183	0.90[AFR][1000 genomes]
rs73526192	0.90[AFR][1000 genomes]
rs73528704	0.90[AFR][1000 genomes]
rs73528766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528768	1.00[AMR][1000 genomes]
rs73528773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528783	1.00[AMR][1000 genomes]
rs73528784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528786	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs735920	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118912200-118966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:118927000-118965000	Weak transcription	NHLF	lung
3	chr6:118931600-118970400	Weak transcription	NH-A	brain
4	chr6:118940200-118966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:118940400-118960600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:118944400-118961600	Weak transcription	Ovary	ovary
8	chr6:118950400-118970400	Weak transcription	Fetal Kidney	kidney
9	chr6:118951600-118961800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:118952000-118961600	Weak transcription	Psoas Muscle	Psoas
11	chr6:118952000-118965200	Weak transcription	Aorta	Aorta
12	chr6:118952200-118965000	Weak transcription	Left Ventricle	heart
13	chr6:118952200-118966400	Weak transcription	Fetal Stomach	stomach
14	chr6:118952200-118966400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:118952200-118970600	Weak transcription	Thymus	Thymus
16	chr6:118952400-118965000	Weak transcription	Osteobl	bone
17	chr6:118953000-118964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:118953200-118971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:118953400-118970600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:118953800-118971200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:118954000-118970400	Weak transcription	HSMM	muscle
22	chr6:118954200-118960600	Weak transcription	Dnd41	blood
23	chr6:118954200-118965000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:118954200-118965600	Weak transcription	Fetal Thymus	thymus
25	chr6:118958000-118961400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:118958000-118964800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:118958000-118966000	Weak transcription	Pancreas	Pancrea
28	chr6:118958000-118970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:118959000-118962400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:118959200-118961000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:118959200-118961000	Enhancers	Brain Substantia Nigra	brain
32	chr6:118959200-118961600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:118959200-118961800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:118959200-118961800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:118959200-118966800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr6:118959400-118961200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:118959400-118961400	Enhancers	Stomach Mucosa	stomach
38	chr6:118959600-118960600	Enhancers	Brain Anterior Caudate	brain
39	chr6:118959600-118960800	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:118959600-118961200	Enhancers	Liver	Liver
41	chr6:118959600-118961600	Enhancers	Primary T cells from cord blood	blood
42	chr6:118959600-118961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:118960200-118960600	Enhancers	Primary B cells from cord blood	blood
44	chr6:118960200-118960600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:118960200-118960800	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:118960200-118960800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:118960200-118961400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:118960200-118961400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr6:118960200-118961400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:118960200-118961400	Enhancers	GM12878-XiMat	blood

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