Variant report

Variant	rs11651383
Chromosome Location	chr17:17657478-17657479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17653595..17657519-chr17:17683947..17689253,6	K562	blood:
2	chr17:17653399..17659141-chr17:17659467..17667043,10	MCF-7	breast:
3	chr17:17599477..17603323-chr17:17655564..17658131,3	MCF-7	breast:
4	chr17:17655861..17657547-chr17:17674732..17677480,2	K562	blood:
5	chr17:17655986..17658133-chr17:17739620..17741747,2	K562	blood:
6	chr17:17655283..17657640-chr17:17714232..17716062,2	K562	blood:
7	chr17:17656268..17659842-chr17:17738486..17742077,3	MCF-7	breast:
8	chr17:17655580..17657741-chr17:17679613..17683622,3	MCF-7	breast:
9	chr17:17653860..17663088-chr17:17683787..17689208,13	MCF-7	breast:
10	chr17:17654401..17657547-chr17:17674732..17678193,3	K562	blood:
11	chr17:17655717..17658427-chr17:17678089..17680908,2	MCF-7	breast:
12	chr17:17654066..17657640-chr17:17714232..17717247,3	K562	blood:
13	chr17:17656397..17658202-chr17:17685291..17688470,3	MCF-7	breast:
14	chr17:17655611..17657525-chr17:17743902..17745555,2	MCF-7	breast:
15	chr17:17635759..17637850-chr17:17656401..17658253,2	K562	blood:
16	chr17:17654775..17657908-chr17:17671438..17673241,3	K562	blood:
17	chr17:17655972..17658628-chr17:17659930..17661835,2	K562	blood:
18	chr17:17596840..17599239-chr17:17655841..17657576,2	MCF-7	breast:
19	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:
20	chr17:17588143..17591255-chr17:17654144..17657655,3	MCF-7	breast:
21	chr17:17592971..17596816-chr17:17655717..17659704,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207839	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000226746	Chromatin interaction
ENSG00000264167	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1006656	0.85[AFR][1000 genomes]
rs11078396	0.96[EUR][1000 genomes]
rs11078397	1.00[EUR][1000 genomes]
rs11651378	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11652525	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11652656	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11653424	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11654482	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11656699	0.80[EUR][1000 genomes]
rs11656769	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11658846	1.00[EUR][1000 genomes]
rs35686634	0.82[EUR][1000 genomes]
rs4925112	0.82[EUR][1000 genomes]
rs55646572	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56022233	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60149982	1.00[EUR][1000 genomes]
rs60549849	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60889477	0.98[EUR][1000 genomes]
rs6502612	0.85[EUR][1000 genomes]
rs73295691	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295699	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8066159	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8066177	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8079880	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9910075	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	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
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
18	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
21	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
22	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv532109	chr17:17630064-17700497	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
25	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
27	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
28	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17651600-17663600	Enhancers	Fetal Heart	heart
2	chr17:17656000-17657600	Flanking Active TSS	Thymus	Thymus
3	chr17:17656200-17658800	Enhancers	Spleen	Spleen
4	chr17:17656200-17660600	Enhancers	Left Ventricle	heart
5	chr17:17656400-17657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17656400-17658400	Weak transcription	Fetal Brain Female	brain
7	chr17:17656400-17660800	Enhancers	Right Ventricle	heart
8	chr17:17656600-17657800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:17656600-17658000	Weak transcription	Lung	lung
10	chr17:17656600-17658200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr17:17656600-17658400	Weak transcription	Liver	Liver
12	chr17:17656600-17658400	Weak transcription	Gastric	stomach
13	chr17:17656600-17658400	Weak transcription	Psoas Muscle	Psoas
14	chr17:17656600-17658800	Enhancers	Primary B cells from peripheral blood	blood
15	chr17:17656600-17658800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:17656600-17658800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr17:17656600-17658800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:17656600-17660200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:17656600-17660200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:17656600-17660200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr17:17656600-17660400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:17656600-17660400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr17:17656600-17660800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr17:17656600-17661200	Weak transcription	Fetal Brain Male	brain
25	chr17:17656600-17662400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:17656600-17665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:17656600-17682200	Weak transcription	Small Intestine	intestine
28	chr17:17656800-17657600	Enhancers	Stomach Smooth Muscle	stomach
29	chr17:17656800-17657800	Enhancers	Fetal Thymus	thymus
30	chr17:17656800-17658200	Weak transcription	Esophagus	oesophagus
31	chr17:17656800-17658200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr17:17656800-17658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:17656800-17658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17656800-17658400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:17656800-17658400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:17656800-17658400	Weak transcription	Placenta	Placenta
37	chr17:17656800-17658600	Weak transcription	Pancreas	Pancrea
38	chr17:17656800-17658800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:17656800-17660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr17:17656800-17660600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:17656800-17660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:17656800-17661400	Weak transcription	NHLF	lung
43	chr17:17656800-17668800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr17:17656800-17669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:17656800-17669800	Weak transcription	Colonic Mucosa	Colon
46	chr17:17657000-17657800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:17657000-17657800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:17657000-17658200	Weak transcription	Right Atrium	heart
49	chr17:17657000-17659400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr17:17657000-17660000	Weak transcription	Duodenum Mucosa	Duodenum

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