Variant report

Variant	rs17080446
Chromosome Location	chr6:118981374-118981375
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	chr6:118980791..118982303-chr6:118985520..118987932,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

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	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs17080325	0.85[AFR][1000 genomes]
rs17080419	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080466	1.00[YRI][hapmap];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	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118973400-118988800	Weak transcription	NH-A	brain
2	chr6:118973600-118981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:118973600-118983000	Weak transcription	Primary B cells from cord blood	blood
4	chr6:118973600-118983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:118973600-118989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:118978200-118985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:118978200-118989800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:118978600-118981800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:118978600-118982400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:118978600-118983000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:118979800-118982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:118980200-118982000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:118980200-118982000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:118980600-118981400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr6:118980600-118981400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:118980600-118981600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:118980600-118981600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:118980600-118981600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:118980600-118981600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:118980600-118981600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr6:118980600-118981600	Enhancers	NHLF	lung
22	chr6:118980600-118981800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:118980600-118981800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:118980600-118982000	Enhancers	Primary T cells from cord blood	blood
25	chr6:118980600-118982000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:118980600-118982000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:118980600-118982000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:118980600-118982000	Enhancers	K562	blood
29	chr6:118980800-118981400	Enhancers	Brain Substantia Nigra	brain
30	chr6:118980800-118981600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:118980800-118981600	Enhancers	Brain Anterior Caudate	brain
32	chr6:118980800-118981600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:118980800-118981600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:118980800-118981600	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:118980800-118981600	Enhancers	Placenta	Placenta
36	chr6:118980800-118981600	Enhancers	Left Ventricle	heart
37	chr6:118980800-118981600	Enhancers	Psoas Muscle	Psoas
38	chr6:118980800-118981600	Enhancers	Right Atrium	heart
39	chr6:118980800-118981600	Enhancers	Right Ventricle	heart
40	chr6:118980800-118981600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:118980800-118981600	Enhancers	HSMM	muscle
42	chr6:118980800-118981800	Enhancers	Fetal Heart	heart
43	chr6:118980800-118981800	Enhancers	Fetal Lung	lung
44	chr6:118980800-118981800	Enhancers	Fetal Stomach	stomach
45	chr6:118980800-118982000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr6:118980800-118982000	Enhancers	Fetal Muscle Leg	muscle
47	chr6:118981000-118981400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:118981000-118981400	Weak transcription	Pancreas	Pancrea
49	chr6:118981000-118981800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:118981000-118982200	Genic enhancers	Fetal Thymus	thymus

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