Variant report

Variant	rs17080304
Chromosome Location	chr6:118859896-118859897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118858794..118860547-chr6:118861810..118864378,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10484289	0.80[YRI][hapmap]
rs1317073	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17080257	0.80[YRI][hapmap]
rs17080282	0.80[YRI][hapmap]
rs17080291	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17080305	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs17080307	0.80[YRI][hapmap]
rs17080321	0.80[YRI][hapmap]
rs17080419	0.80[YRI][hapmap]
rs59510697	0.92[AFR][1000 genomes]
rs60752825	0.92[AFR][1000 genomes]
rs73522486	0.92[AFR][1000 genomes]
rs73522497	0.92[AFR][1000 genomes]
rs73524154	0.92[AFR][1000 genomes]
rs735920	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv525179	chr6:118726243-118876092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
16	nsv1019357	chr6:118731468-118860705	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv464029	chr6:118768150-118861263	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
18	nsv604558	chr6:118768150-118861263	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
19	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
20	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
21	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
22	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
23	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
24	esv3382158	chr6:118859837-118860062	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118824200-118869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:118836600-118869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:118842600-118863800	Weak transcription	NHDF-Ad	bronchial
4	chr6:118844800-118872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:118844800-118875800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:118845000-118863400	Weak transcription	HSMM	muscle
7	chr6:118845200-118880000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:118846000-118875600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:118846200-118878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:118847800-118862400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:118847800-118895400	Weak transcription	Pancreas	Pancrea
12	chr6:118848600-118863600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:118850000-118864000	Weak transcription	Stomach Mucosa	stomach
14	chr6:118851000-118867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:118851600-118863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:118852600-118895200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:118853600-118862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:118853600-118863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:118854800-118863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:118856800-118865000	Weak transcription	Primary T cells from cord blood	blood
21	chr6:118857800-118869400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:118858000-118860400	Weak transcription	Brain Angular Gyrus	brain
23	chr6:118858000-118862400	Weak transcription	Small Intestine	intestine
24	chr6:118858000-118871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:118858800-118864800	Weak transcription	Right Ventricle	heart
26	chr6:118859000-118860800	Weak transcription	Psoas Muscle	Psoas
27	chr6:118859000-118861400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:118859000-118862400	Weak transcription	Osteobl	bone
29	chr6:118859000-118863600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:118859000-118863600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:118859000-118864800	Weak transcription	Right Atrium	heart
32	chr6:118859000-118869000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:118859200-118862200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:118859200-118862800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:118859400-118860200	Weak transcription	Fetal Heart	heart
36	chr6:118859400-118861000	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:118859400-118862800	Weak transcription	NH-A	brain
38	chr6:118859400-118863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:118859400-118880200	Weak transcription	Brain Hippocampus Middle	brain

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