Variant report

Variant	rs12942059
Chromosome Location	chr17:17644364-17644365
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17641768..17644608-chr17:17649386..17652186,2	MCF-7	breast:
2	chr17:17643614..17646050-chr17:17649890..17651960,2	MCF-7	breast:
3	chr17:17591325..17593317-chr17:17642372..17644789,2	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	chr17:17643111..17647030-chr17:17650227..17654517,4	K562	blood:
7	chr17:17583280..17588870-chr17:17641850..17648309,13	MCF-7	breast:
8	chr17:17583179..17588204-chr17:17638898..17644653,8	MCF-7	breast:
9	chr17:17644211..17647025-chr17:17649505..17654412,4	K562	blood:
10	chr17:17643501..17645384-chr17:17646816..17648997,3	MCF-7	breast:
11	chr17:17642938..17645672-chr17:17647673..17649356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2001884	0.86[ASN][1000 genomes]
rs6502615	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7208561	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7224739	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065154	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8075153	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9899445	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9910411	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17630800-17646000	Enhancers	Fetal Heart	heart
2	chr17:17636200-17648200	Weak transcription	Dnd41	blood
3	chr17:17637800-17645000	Enhancers	Fetal Thymus	thymus
4	chr17:17639000-17644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:17639000-17645000	Enhancers	Primary hematopoietic stem cells	blood
6	chr17:17639000-17646400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:17639000-17647600	Enhancers	Left Ventricle	heart
8	chr17:17639200-17644400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17639200-17646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:17639400-17644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:17639400-17645000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr17:17639600-17646200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr17:17639800-17645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17640000-17645000	Enhancers	Colon Smooth Muscle	Colon
15	chr17:17640000-17645400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr17:17640000-17646200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:17640200-17645400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:17640200-17646200	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:17640400-17645600	Enhancers	Lung	lung
20	chr17:17640400-17647400	Enhancers	Right Ventricle	heart
21	chr17:17640600-17644400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17640600-17644400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr17:17640600-17644800	Enhancers	Fetal Brain Male	brain
24	chr17:17640600-17645600	Enhancers	Fetal Intestine Large	intestine
25	chr17:17640600-17646200	Enhancers	Stomach Mucosa	stomach
26	chr17:17640600-17646400	Enhancers	Fetal Lung	lung
27	chr17:17640600-17647800	Enhancers	Pancreas	Pancrea
28	chr17:17640800-17644400	Enhancers	Fetal Brain Female	brain
29	chr17:17640800-17645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:17640800-17645800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:17641000-17645600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:17641000-17645600	Genic enhancers	Fetal Intestine Small	intestine
33	chr17:17641000-17646800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:17641200-17644400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr17:17641200-17644400	Enhancers	Ovary	ovary
36	chr17:17641200-17644600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:17641200-17644800	Enhancers	Gastric	stomach
38	chr17:17641200-17645600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:17641200-17646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:17641200-17646200	Enhancers	NH-A	brain
41	chr17:17641400-17646200	Enhancers	HUVEC	blood vessel
42	chr17:17641600-17652200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr17:17641800-17646200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr17:17641800-17646400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:17642000-17644400	Enhancers	Thymus	Thymus
46	chr17:17642200-17650600	Weak transcription	GM12878-XiMat	blood
47	chr17:17642600-17645000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:17642600-17652400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:17642800-17645200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr17:17642800-17651400	Weak transcription	Primary B cells from peripheral blood	blood

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