Variant report

Variant	rs59986676
Chromosome Location	chr17:19586088-19586089
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19578904..19580816-chr17:19583999..19586179,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2108969	0.97[AFR][1000 genomes]
rs57341889	1.00[EUR][1000 genomes]
rs57366502	1.00[EUR][1000 genomes]
rs57430594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60885323	1.00[EUR][1000 genomes]
rs61397315	1.00[EUR][1000 genomes]
rs7342960	1.00[EUR][1000 genomes]
rs73981567	1.00[EUR][1000 genomes]
rs73981568	1.00[EUR][1000 genomes]
rs73981569	1.00[EUR][1000 genomes]
rs73981572	1.00[EUR][1000 genomes]
rs73981575	1.00[EUR][1000 genomes]
rs73981592	1.00[EUR][1000 genomes]
rs73981595	1.00[AMR][1000 genomes]
rs73981599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8065688	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1062485	chr17:19558644-19608008	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
2	chr17:19569800-19591000	Weak transcription	Fetal Brain Male	brain
3	chr17:19575000-19590200	Weak transcription	Right Ventricle	heart
4	chr17:19575800-19586600	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:19576000-19596200	Weak transcription	Fetal Heart	heart
6	chr17:19580600-19586600	Weak transcription	Colonic Mucosa	Colon
7	chr17:19580600-19586600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:19580600-19589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:19580800-19586800	Weak transcription	Fetal Intestine Large	intestine
10	chr17:19580800-19589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:19582600-19594800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:19582600-19605600	Weak transcription	Fetal Kidney	kidney
13	chr17:19582800-19586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:19582800-19586400	Weak transcription	Adipose Nuclei	Adipose
15	chr17:19582800-19586400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:19582800-19586800	Weak transcription	Spleen	Spleen
17	chr17:19582800-19587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:19582800-19588600	Weak transcription	Esophagus	oesophagus
19	chr17:19582800-19589200	Weak transcription	Liver	Liver
20	chr17:19582800-19589600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:19582800-19589800	Weak transcription	HepG2	liver
22	chr17:19582800-19590000	Weak transcription	Gastric	stomach
23	chr17:19583000-19586400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:19583000-19586600	Weak transcription	Brain Germinal Matrix	brain
25	chr17:19583000-19589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:19583000-19590000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr17:19583000-19606200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:19583200-19586400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:19583200-19586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:19583200-19588000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr17:19583200-19591000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:19583200-19592000	Weak transcription	Fetal Intestine Small	intestine
33	chr17:19583400-19589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:19583400-19606400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr17:19583400-19606800	Weak transcription	Ovary	ovary
36	chr17:19583600-19588600	Weak transcription	Brain Hippocampus Middle	brain
37	chr17:19583800-19587800	Weak transcription	Brain Substantia Nigra	brain
38	chr17:19584000-19586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:19585000-19586600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr17:19585000-19605600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:19585000-19606600	Weak transcription	Pancreas	Pancrea
42	chr17:19585200-19586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:19585200-19586800	Weak transcription	Brain Anterior Caudate	brain
44	chr17:19585200-19587600	Weak transcription	Fetal Brain Female	brain
45	chr17:19585200-19589000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:19585200-19589800	Weak transcription	Fetal Stomach	stomach
47	chr17:19585200-19590000	Weak transcription	Fetal Muscle Leg	muscle
48	chr17:19585200-19593200	Weak transcription	A549	lung
49	chr17:19585200-19605600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:19585200-19606400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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