Variant report

Variant	rs73319718
Chromosome Location	chr17:45891796-45891797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45891172..45893175-chr17:45907372..45909322,2	MCF-7	breast:
2	chr17:45886646..45890466-chr17:45890484..45892825,3	K562	blood:
3	chr17:45886192..45893448-chr17:45896148..45900071,14	MCF-7	breast:
4	chr17:45882984..45885950-chr17:45891255..45893938,2	MCF-7	breast:
5	chr17:45891073..45893922-chr17:45907211..45908971,2	MCF-7	breast:
6	chr17:45889242..45892489-chr17:45892832..45894742,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159111	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000006025	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56239340	1.00[EUR][1000 genomes]
rs57483258	1.00[EUR][1000 genomes]
rs7225277	1.00[EUR][1000 genomes]
rs73319731	1.00[AMR][1000 genomes]
rs73319787	1.00[AMR][1000 genomes]
rs73985186	1.00[EUR][1000 genomes]
rs73985189	1.00[EUR][1000 genomes]
rs73988809	1.00[EUR][1000 genomes]
rs73988811	1.00[EUR][1000 genomes]
rs73988823	1.00[EUR][1000 genomes]
rs73988830	1.00[EUR][1000 genomes]
rs73988840	1.00[EUR][1000 genomes]
rs73988847	1.00[EUR][1000 genomes]
rs73988853	1.00[EUR][1000 genomes]
rs8066161	1.00[EUR][1000 genomes]
rs8075483	1.00[EUR][1000 genomes]
rs9675329	1.00[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45881600-45897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr17:45882000-45891800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:45882200-45892000	Weak transcription	Fetal Kidney	kidney
4	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45883400-45897600	Strong transcription	Fetal Stomach	stomach
6	chr17:45883400-45898200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:45883600-45897800	Weak transcription	Fetal Brain Male	brain
8	chr17:45884000-45896600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:45884000-45897000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:45884000-45897000	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr17:45884000-45897200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:45884000-45897200	Strong transcription	Brain Anterior Caudate	brain
13	chr17:45884000-45897200	Strong transcription	Thymus	Thymus
14	chr17:45884000-45897400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:45884000-45897400	Strong transcription	Spleen	Spleen
16	chr17:45884000-45898000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:45884000-45898400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:45884200-45892000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:45884200-45893000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:45884200-45896200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:45884200-45897000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr17:45884200-45897200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:45884200-45897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:45884200-45897200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45884200-45897400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:45884200-45897400	Strong transcription	Brain Hippocampus Middle	brain
27	chr17:45884200-45897400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr17:45884200-45897600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:45884200-45898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:45884400-45896600	Strong transcription	Brain Germinal Matrix	brain
31	chr17:45884400-45896800	Strong transcription	Brain Substantia Nigra	brain
32	chr17:45884400-45897000	Strong transcription	Primary T cells from cord blood	blood
33	chr17:45884400-45897000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:45884400-45897000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr17:45884400-45897200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45884400-45897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:45884600-45896600	Strong transcription	Right Ventricle	heart
38	chr17:45884600-45896800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr17:45884600-45897000	Strong transcription	Brain Angular Gyrus	brain
40	chr17:45884600-45897000	Strong transcription	Fetal Brain Female	brain
41	chr17:45884600-45897200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr17:45884800-45897000	Strong transcription	Fetal Thymus	thymus
43	chr17:45884800-45897400	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:45884800-45898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:45885000-45893800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:45885000-45895400	Weak transcription	Psoas Muscle	Psoas
47	chr17:45885200-45898000	Weak transcription	Fetal Heart	heart
48	chr17:45885400-45892400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:45886400-45893200	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:45887000-45898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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