Variant report

Variant	rs73296067
Chromosome Location	chr17:19880301-19880302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:19834831..19836752-chr17:19879517..19881756,2	MCF-7	breast:
2	chr17:19769754..19773058-chr17:19878983..19882883,4	MCF-7	breast:
3	chr17:19879148..19882537-chr17:19911149..19913260,3	MCF-7	breast:
4	chr17:19864763..19867496-chr17:19878736..19880749,2	K562	blood:
5	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
6	chr17:19873620..19876198-chr17:19879057..19880667,2	MCF-7	breast:
7	chr17:19861091..19865827-chr17:19879221..19882528,6	MCF-7	breast:
8	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:
9	chr17:19877816..19880542-chr17:20058157..20059665,2	MCF-7	breast:
10	chr17:19880201..19881069-chr17:75283765..75284575,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction
ENSG00000128487	Chromatin interaction
ENSG00000083290	Chromatin interaction
ENSG00000184640	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10459970	0.89[EUR][1000 genomes]
rs16960554	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008758	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385960	0.89[EUR][1000 genomes]
rs56153261	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57040439	0.89[EUR][1000 genomes]
rs57673732	0.89[EUR][1000 genomes]
rs58313980	0.89[EUR][1000 genomes]
rs59890010	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749865	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73980762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73984559	0.89[EUR][1000 genomes]
rs8073875	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73296067	USP32P3	cis	Heart Left Ventricle	GTEx
rs73296067	AKAP10	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19857400-19880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:19874400-19880400	Weak transcription	Ovary	ovary
3	chr17:19874600-19880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:19879000-19880400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr17:19879200-19881600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:19879400-19880400	Enhancers	Spleen	Spleen
7	chr17:19879400-19880400	Flanking Active TSS	Dnd41	blood
8	chr17:19879400-19881400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:19879400-19882000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr17:19879400-19882400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:19879600-19880400	Enhancers	Lung	lung
12	chr17:19879600-19880600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr17:19879600-19880600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:19879600-19881400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:19879600-19881400	Active TSS	A549	lung
16	chr17:19879600-19881400	Active TSS	GM12878-XiMat	blood
17	chr17:19879600-19881400	Active TSS	Hela-S3	cervix
18	chr17:19879600-19881600	Active TSS	HSMM	muscle
19	chr17:19879600-19881800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:19879800-19880400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr17:19879800-19880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:19879800-19880800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr17:19879800-19881400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:19879800-19881400	Active TSS	K562	blood
25	chr17:19880000-19880400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:19880000-19880400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:19880000-19880400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:19880000-19880400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:19880000-19880400	Flanking Active TSS	Liver	Liver
30	chr17:19880000-19880400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr17:19880000-19880400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:19880000-19880400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr17:19880000-19880400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr17:19880000-19880400	Flanking Active TSS	Fetal Stomach	stomach
35	chr17:19880000-19880400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr17:19880000-19880400	Flanking Active TSS	Right Ventricle	heart
37	chr17:19880000-19880400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr17:19880000-19880600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:19880000-19880600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr17:19880000-19880600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr17:19880000-19880600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:19880000-19880600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:19880000-19880600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr17:19880000-19880600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr17:19880000-19880600	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr17:19880000-19880600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr17:19880000-19880600	Weak transcription	Small Intestine	intestine
48	chr17:19880000-19880800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr17:19880000-19880800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:19880000-19880800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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