Variant report

Variant	rs73292342
Chromosome Location	chr17:17380994-17380995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
2	chr17:17380357..17382707-chr17:17470620..17472293,2	MCF-7	breast:
3	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55857551	1.00[AMR][1000 genomes]
rs56346131	1.00[AMR][1000 genomes]
rs58334212	0.88[AFR][1000 genomes]
rs68181410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290168	1.00[AMR][1000 genomes]
rs73292311	0.83[AFR][1000 genomes]
rs73292335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298550	1.00[AMR][1000 genomes]
rs73298582	1.00[AMR][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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17379800-17381200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr17:17379800-17381200	Active TSS	A549	lung
3	chr17:17380000-17381000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:17380000-17381000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:17380000-17381000	Active TSS	Fetal Heart	heart
6	chr17:17380000-17381000	Active TSS	Fetal Kidney	kidney
7	chr17:17380000-17381000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:17380000-17381200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:17380000-17381200	Active TSS	Colonic Mucosa	Colon
10	chr17:17380000-17381200	Active TSS	Ovary	ovary
11	chr17:17380000-17381800	Active TSS	Right Ventricle	heart
12	chr17:17380200-17381000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:17380200-17381000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17380200-17381000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:17380200-17381000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:17380200-17381000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:17380200-17381000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr17:17380200-17381000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr17:17380200-17381000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr17:17380200-17381000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:17380200-17381000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr17:17380200-17381000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17380200-17381000	Active TSS	Brain Angular Gyrus	brain
24	chr17:17380200-17381000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr17:17380200-17381000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr17:17380200-17381000	Active TSS	Fetal Intestine Small	intestine
27	chr17:17380200-17381000	Active TSS	Lung	lung
28	chr17:17380200-17381000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr17:17380200-17381000	Active TSS	Small Intestine	intestine
30	chr17:17380200-17381000	Bivalent/Poised TSS	HepG2	liver
31	chr17:17380200-17381000	Active TSS	HMEC	breast
32	chr17:17380200-17381200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr17:17380200-17381200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:17380200-17381200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:17380200-17381200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:17380200-17381200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:17380200-17381200	Active TSS	Aorta	Aorta
38	chr17:17380200-17381200	Active TSS	Esophagus	oesophagus
39	chr17:17380200-17381200	Active TSS	Fetal Muscle Trunk	muscle
40	chr17:17380200-17381200	Active TSS	Gastric	stomach
41	chr17:17380200-17381200	Active TSS	Pancreas	Pancrea
42	chr17:17380200-17381200	Active TSS	NHDF-Ad	bronchial
43	chr17:17380200-17381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:17380200-17381400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr17:17380200-17381400	Active TSS	Psoas Muscle	Psoas
46	chr17:17380200-17381600	Active TSS	Left Ventricle	heart
47	chr17:17380400-17381200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr17:17380400-17381200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:17380400-17381200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr17:17380400-17381800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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