Variant report

Variant	rs60644317
Chromosome Location	chr17:16487803-16487804
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16487641..16489428-chr17:16491263..16493497,2	MCF-7	breast:
2	chr17:16439973..16440787-chr17:16487242..16487932,3	MCF-7	breast:
3	chr17:16438778..16440938-chr17:16486028..16489124,4	MCF-7	breast:
4	chr17:16487372..16488223-chr17:16592973..16593641,3	MCF-7	breast:
5	chr17:16471107..16473836-chr17:16487163..16489402,2	MCF-7	breast:
6	chr17:16438011..16440240-chr17:16486101..16487896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170160	Chromatin interaction
ENSG00000266302	Chromatin interaction
ENSG00000141040	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11870650	1.00[ASN][1000 genomes]
rs11870734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058197	1.00[ASN][1000 genomes]
rs28419755	1.00[ASN][1000 genomes]
rs28704561	1.00[ASN][1000 genomes]
rs2882646	1.00[EUR][1000 genomes]
rs57240543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072767	0.97[ASN][1000 genomes]
rs62072768	0.94[ASN][1000 genomes]
rs62072769	1.00[ASN][1000 genomes]
rs62072772	1.00[ASN][1000 genomes]
rs62072773	0.87[ASN][1000 genomes]
rs7218473	1.00[ASN][1000 genomes]
rs73982008	0.94[ASN][1000 genomes]
rs9899944	1.00[ASN][1000 genomes]
rs9910496	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr17:16487200-16488000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr17:16487200-16488000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr17:16487200-16488000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:16487200-16488000	Active TSS	Stomach Smooth Muscle	stomach
5	chr17:16487200-16488200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr17:16487200-16488200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr17:16487200-16488200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:16487200-16488200	Enhancers	Fetal Brain Male	brain
9	chr17:16487200-16488200	Enhancers	Placenta	Placenta
10	chr17:16487200-16488200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:16487200-16488200	Flanking Active TSS	Dnd41	blood
12	chr17:16487200-16488200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr17:16487400-16488000	Active TSS	Brain Angular Gyrus	brain
14	chr17:16487400-16488000	Active TSS	Brain Anterior Caudate	brain
15	chr17:16487400-16488000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:16487400-16488000	Flanking Active TSS	Fetal Lung	lung
17	chr17:16487400-16488200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:16487400-16488200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr17:16487400-16488200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:16487400-16488200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:16487400-16488200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr17:16487400-16488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:16487400-16488200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr17:16487400-16488200	Active TSS	Brain Germinal Matrix	brain
25	chr17:16487400-16488200	Active TSS	Fetal Brain Female	brain
26	chr17:16487400-16488200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr17:16487400-16488200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr17:16487400-16488200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr17:16487400-16488200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr17:16487400-16488200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr17:16487400-16488200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr17:16487400-16488200	Flanking Active TSS	Osteobl	bone
33	chr17:16487400-16488400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:16487600-16488000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr17:16487600-16488000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr17:16487600-16488000	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr17:16487600-16488000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:16487600-16488000	Flanking Active TSS	Liver	Liver
44	chr17:16487600-16488000	Active TSS	Brain Cingulate Gyrus	brain
45	chr17:16487600-16488000	Active TSS	Brain Hippocampus Middle	brain
46	chr17:16487600-16488000	Active TSS	Esophagus	oesophagus
47	chr17:16487600-16488000	Flanking Active TSS	Fetal Heart	heart
48	chr17:16487600-16488000	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr17:16487600-16488000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr17:16487600-16488000	Flanking Active TSS	NHLF	lung

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