Variant report

Variant	rs73292346
Chromosome Location	chr17:17383764-17383765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17379018..17381864-chr17:17382301..17386049,5	MCF-7	breast:
2	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
3	chr17:17349350..17351226-chr17:17382738..17384846,2	K562	blood:
4	chr17:17382327..17386627-chr17:17397610..17400464,6	MCF-7	breast:
5	chr17:17382779..17384449-chr17:17466823..17468946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1108740	0.86[EUR][1000 genomes]
rs17723136	0.90[EUR][1000 genomes]
rs2232830	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2232833	0.86[EUR][1000 genomes]
rs2232841	0.90[EUR][1000 genomes]
rs73292347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292350	1.00[EUR][1000 genomes]
rs73292351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8066002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17380400-17385600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr17:17381200-17383800	Weak transcription	Gastric	stomach
3	chr17:17381200-17384000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17381200-17384400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:17381200-17386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:17381200-17391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:17381200-17394200	Weak transcription	Ovary	ovary
8	chr17:17381200-17394400	Weak transcription	Aorta	Aorta
9	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17381400-17383800	Weak transcription	Pancreas	Pancrea
12	chr17:17381400-17384200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:17381400-17385800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:17381400-17386600	Enhancers	Thymus	Thymus
15	chr17:17381400-17388800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:17381400-17389400	Genic enhancers	Fetal Thymus	thymus
17	chr17:17381400-17392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:17381400-17394400	Weak transcription	Colonic Mucosa	Colon
19	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:17381600-17383800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:17381600-17384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:17381600-17384600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:17381600-17385000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:17381600-17386200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:17381600-17387400	Weak transcription	HSMMtube	muscle
26	chr17:17381600-17387600	Weak transcription	Esophagus	oesophagus
27	chr17:17381600-17388800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:17381600-17394800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:17381800-17383800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:17381800-17383800	Weak transcription	Spleen	Spleen
31	chr17:17381800-17384000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:17381800-17384600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:17381800-17384600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr17:17381800-17384600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr17:17381800-17384600	Enhancers	HMEC	breast
36	chr17:17381800-17384800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:17381800-17385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:17381800-17387400	Weak transcription	HSMM	muscle
39	chr17:17381800-17387800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:17381800-17388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:17381800-17388000	Enhancers	Fetal Heart	heart
42	chr17:17381800-17388600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:17381800-17389800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:17381800-17391000	Weak transcription	Fetal Kidney	kidney
45	chr17:17381800-17391000	Weak transcription	NHDF-Ad	bronchial
46	chr17:17381800-17393800	Weak transcription	Fetal Lung	lung
47	chr17:17381800-17396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:17381800-17397200	Weak transcription	NH-A	brain
49	chr17:17382000-17383800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr17:17382000-17384200	Strong transcription	Fetal Muscle Leg	muscle

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