Variant report

Variant	rs9892814
Chromosome Location	chr17:17640750-17640751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17638497..17640810-chr17:17738890..17741445,2	K562	blood:
2	chr17:17616666..17618848-chr17:17640386..17641937,2	MCF-7	breast:
3	chr17:17594795..17598773-chr17:17639856..17643137,4	MCF-7	breast:
4	chr17:17623498..17628448-chr17:17639518..17645523,5	MCF-7	breast:
5	chr17:17630976..17634790-chr17:17640021..17644758,7	MCF-7	breast:
6	chr17:17615254..17617697-chr17:17640726..17643418,2	MCF-7	breast:
7	chr17:17583179..17588204-chr17:17638898..17644653,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4925107	0.89[AMR][1000 genomes]
rs59064231	0.81[AMR][1000 genomes]
rs60492230	0.81[AMR][1000 genomes]
rs73295666	0.81[AMR][1000 genomes]
rs9891823	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17616200-17642000	Weak transcription	K562	blood
2	chr17:17627800-17642600	Weak transcription	Aorta	Aorta
3	chr17:17628800-17641000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:17628800-17641200	Weak transcription	Fetal Kidney	kidney
5	chr17:17629600-17641200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr17:17629800-17642000	Weak transcription	HepG2	liver
7	chr17:17630000-17641200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr17:17630200-17641200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr17:17630400-17640800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:17630600-17641000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:17630800-17646000	Enhancers	Fetal Heart	heart
12	chr17:17631000-17641400	Weak transcription	HUVEC	blood vessel
13	chr17:17631400-17642200	Weak transcription	Liver	Liver
14	chr17:17631400-17643600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:17633000-17641000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:17633400-17641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17634400-17641800	Weak transcription	Adipose Nuclei	Adipose
18	chr17:17634600-17641200	Weak transcription	Hela-S3	cervix
19	chr17:17636200-17648200	Weak transcription	Dnd41	blood
20	chr17:17636600-17641200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:17636600-17641400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:17637000-17641000	Weak transcription	Brain Anterior Caudate	brain
23	chr17:17637400-17641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:17637400-17641200	Weak transcription	NH-A	brain
25	chr17:17637400-17641200	Weak transcription	NHLF	lung
26	chr17:17637400-17641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:17637800-17645000	Enhancers	Fetal Thymus	thymus
28	chr17:17638000-17640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:17638000-17642800	Enhancers	Primary B cells from peripheral blood	blood
30	chr17:17638200-17641000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:17638200-17641000	Weak transcription	Colonic Mucosa	Colon
32	chr17:17638200-17641200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:17638200-17641200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:17638400-17640800	Weak transcription	Fetal Intestine Small	intestine
35	chr17:17638400-17643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:17639000-17642400	Enhancers	Spleen	Spleen
37	chr17:17639000-17643800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:17639000-17643800	Enhancers	Right Atrium	heart
39	chr17:17639000-17644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:17639000-17645000	Enhancers	Primary hematopoietic stem cells	blood
41	chr17:17639000-17646400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr17:17639000-17647600	Enhancers	Left Ventricle	heart
43	chr17:17639200-17641000	Genic enhancers	A549	lung
44	chr17:17639200-17642400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr17:17639200-17642800	Enhancers	Brain Hippocampus Middle	brain
46	chr17:17639200-17643200	Enhancers	Brain Germinal Matrix	brain
47	chr17:17639200-17643600	Enhancers	Duodenum Mucosa	Duodenum
48	chr17:17639200-17644400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr17:17639200-17646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:17639400-17642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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