Variant report

Variant	rs16960767
Chromosome Location	chr17:17844072-17844073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17842655..17844520-chr17:17849139..17852302,3	MCF-7	breast:
2	chr17:17841663..17844625-chr17:17845017..17847757,2	MCF-7	breast:
3	chr17:17823331..17826317-chr17:17843856..17846226,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960818	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes]
rs56160247	1.00[AMR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299861	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301894	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8078368	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8078811	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:17836600-17846600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr17:17836800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:17837000-17845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:17837400-17847800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:17837800-17847600	Enhancers	HMEC	breast
9	chr17:17838000-17844400	Enhancers	Fetal Intestine Large	intestine
10	chr17:17838000-17845000	Enhancers	Right Ventricle	heart
11	chr17:17838000-17848600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr17:17838200-17844600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:17838200-17845600	Enhancers	Right Atrium	heart
14	chr17:17838400-17844800	Enhancers	Small Intestine	intestine
15	chr17:17838600-17845400	Enhancers	Esophagus	oesophagus
16	chr17:17838600-17846600	Enhancers	Duodenum Mucosa	Duodenum
17	chr17:17838800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:17838800-17846000	Enhancers	Psoas Muscle	Psoas
19	chr17:17839400-17844800	Weak transcription	Primary T cells from cord blood	blood
20	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:17839600-17846600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:17839600-17846600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:17839800-17844600	Weak transcription	Liver	Liver
25	chr17:17839800-17846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17840200-17844600	Enhancers	Gastric	stomach
28	chr17:17840400-17845000	Enhancers	Stomach Mucosa	stomach
29	chr17:17840800-17846000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:17840800-17846600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:17840800-17846800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr17:17841000-17844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:17841000-17846000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:17841000-17846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:17841000-17846800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr17:17841000-17847400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:17841400-17846000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:17841400-17846600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:17841600-17844400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:17841600-17844400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:17841600-17846600	Weak transcription	Pancreas	Pancrea
42	chr17:17841800-17846000	Enhancers	HSMMtube	muscle
43	chr17:17842000-17846000	Enhancers	NHEK	skin
44	chr17:17842200-17846600	Enhancers	Hela-S3	cervix
45	chr17:17842400-17846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:17842800-17846000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:17842800-17846800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:17843000-17848400	Enhancers	NHLF	lung
49	chr17:17843200-17847600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:17843200-17848400	Enhancers	Left Ventricle	heart

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