Variant report

Variant	rs16960349
Chromosome Location	chr17:19606377-19606378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19587883..19589687-chr17:19605818..19607687,2	MCF-7	breast:
2	chr17:19605174..19607538-chr17:19611782..19614497,2	MCF-7	breast:
3	chr17:19605469..19607365-chr17:19608848..19610393,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58060020	1.00[AMR][1000 genomes]
rs58072200	1.00[AMR][1000 genomes]
rs58851845	1.00[AMR][1000 genomes]
rs60739355	1.00[AMR][1000 genomes]
rs73295810	1.00[AMR][1000 genomes]
rs887238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
2	chr17:19583400-19606400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:19583400-19606800	Weak transcription	Ovary	ovary
4	chr17:19585000-19606600	Weak transcription	Pancreas	Pancrea
5	chr17:19585200-19606400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:19585200-19607000	Weak transcription	Aorta	Aorta
7	chr17:19590600-19607400	Weak transcription	Liver	Liver
8	chr17:19603400-19606400	Weak transcription	Fetal Stomach	stomach
9	chr17:19604600-19609400	Weak transcription	Esophagus	oesophagus
10	chr17:19604800-19606400	Enhancers	HepG2	liver
11	chr17:19605000-19607400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:19605000-19608000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:19605400-19608000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr17:19605600-19607200	Enhancers	Brain Cingulate Gyrus	brain
15	chr17:19605600-19607200	Enhancers	Brain Hippocampus Middle	brain
16	chr17:19605600-19608000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:19605600-19608000	Enhancers	Fetal Kidney	kidney
18	chr17:19605600-19608400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:19605800-19606400	Weak transcription	Brain Substantia Nigra	brain
20	chr17:19605800-19607200	Enhancers	Brain Angular Gyrus	brain
21	chr17:19605800-19607200	Enhancers	Brain Anterior Caudate	brain
22	chr17:19605800-19607400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:19605800-19608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:19605800-19610800	Enhancers	Fetal Muscle Leg	muscle
25	chr17:19606000-19607200	Enhancers	Spleen	Spleen
26	chr17:19606000-19608600	Enhancers	Fetal Heart	heart
27	chr17:19606200-19606600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:19606200-19607800	Enhancers	Left Ventricle	heart
29	chr17:19606200-19607800	Enhancers	Right Ventricle	heart
30	chr17:19606200-19607800	Enhancers	A549	lung
31	chr17:19606200-19610800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:19606200-19613600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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