Variant report

Variant	rs9889272
Chromosome Location	chr17:45867404-45867405
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45865807..45868514-chr17:48934567..48937512,3	MCF-7	breast:
2	chr17:45853700..45854313-chr17:45867166..45867952,2	MCF-7	breast:
3	chr17:45853707..45854624-chr17:45867195..45868017,3	MCF-7	breast:
4	chr17:45867186..45869909-chr17:45871017..45872911,2	K562	blood:
5	chr17:45854160..45857127-chr17:45865977..45868516,2	K562	blood:
6	chr17:45860250..45864095-chr17:45867054..45870047,3	MCF-7	breast:
7	chr17:45867067..45868093-chr17:45879443..45880039,3	MCF-7	breast:
8	chr17:45775947..45777166-chr17:45867364..45868043,3	MCF-7	breast:
9	chr17:45865960..45867506-chr17:49026486..49028392,2	MCF-7	breast:
10	chr17:45698425..45699322-chr17:45867182..45867731,2	MCF-7	breast:
11	chr17:45741427..45742405-chr17:45867146..45867910,3	MCF-7	breast:
12	chr17:45775840..45777149-chr17:45867146..45868057,3	MCF-7	breast:
13	chr17:45857879..45859469-chr17:45866625..45868596,2	K562	blood:

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12450849	1.00[EUR][1000 genomes]
rs12453958	1.00[EUR][1000 genomes]
rs2525099	1.00[EUR][1000 genomes]
rs2525100	1.00[EUR][1000 genomes]
rs60163848	1.00[EUR][1000 genomes]
rs60876341	1.00[EUR][1000 genomes]
rs61521088	1.00[EUR][1000 genomes]
rs73321620	1.00[EUR][1000 genomes]
rs73321625	1.00[EUR][1000 genomes]
rs73321628	1.00[EUR][1000 genomes]
rs73321689	1.00[EUR][1000 genomes]
rs73985431	1.00[EUR][1000 genomes]
rs9890122	1.00[EUR][1000 genomes]
rs9899629	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45866200-45868000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:45866400-45868000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:45866600-45867800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:45866600-45867800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr17:45866600-45868000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr17:45866600-45868000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:45866800-45867600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr17:45866800-45867600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr17:45866800-45867800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45866800-45867800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:45866800-45867800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:45866800-45868000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:45867000-45867600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45867000-45867600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:45867000-45867600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr17:45867000-45867600	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr17:45867000-45867600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr17:45867000-45867600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:45867000-45867600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
27	chr17:45867000-45867600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr17:45867000-45867600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:45867000-45867600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
31	chr17:45867000-45867600	Flanking Active TSS	Pancreas	Pancrea
32	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
33	chr17:45867000-45867600	Flanking Active TSS	Right Ventricle	heart
34	chr17:45867000-45867600	Bivalent/Poised TSS	NHEK	skin
35	chr17:45867000-45867600	Bivalent/Poised TSS	Osteobl	bone
36	chr17:45867000-45867800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:45867000-45867800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45867000-45867800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr17:45867000-45867800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
41	chr17:45867000-45867800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:45867000-45867800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:45867000-45867800	Bivalent Enhancer	Liver	Liver
50	chr17:45867000-45867800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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