Variant report

Variant	rs59474645
Chromosome Location	chr16:30593001-30593002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30592921-30593277	K562	blood:	n/a	n/a
2	NFIC	chr16:30592832-30593181	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:30592806-30593139	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30578114..30586052-chr16:30592731..30598818,24	MCF-7	breast:
2	chr16:30583050..30589314-chr16:30592212..30597849,11	K562	blood:
3	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:

Variant related genes	Relation type
ENSG00000260167	TF binding region
ENSG00000261459	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000239791	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1348039	1.00[AMR][1000 genomes]
rs1470129	1.00[AMR][1000 genomes]
rs1530201	1.00[AMR][1000 genomes]
rs2919428	1.00[AMR][1000 genomes]
rs2972805	1.00[AMR][1000 genomes]
rs2972806	1.00[AMR][1000 genomes]
rs34838942	1.00[AMR][1000 genomes]
rs35590751	1.00[AMR][1000 genomes]
rs35752464	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	1.00[AMR][1000 genomes]
rs4889506	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs62057229	1.00[AMR][1000 genomes]
rs7188927	1.00[AMR][1000 genomes]
rs74015010	1.00[AMR][1000 genomes]
rs74015011	1.00[AMR][1000 genomes]
rs74015012	1.00[AMR][1000 genomes]
rs893924	1.00[AMR][1000 genomes]
rs893925	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30584000-30593200	Weak transcription	Brain Angular Gyrus	brain
2	chr16:30584000-30593800	Weak transcription	Psoas Muscle	Psoas
3	chr16:30584000-30596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:30584000-30596000	Weak transcription	Fetal Kidney	kidney
5	chr16:30584000-30596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30584000-30596000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:30584000-30596000	Weak transcription	NHDF-Ad	bronchial
8	chr16:30584000-30596200	Weak transcription	Right Atrium	heart
9	chr16:30584200-30593800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:30584200-30596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:30584200-30596000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:30584200-30596000	Weak transcription	NH-A	brain
13	chr16:30584400-30593200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:30584400-30596000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:30584400-30596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:30584800-30596200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:30585000-30593400	Weak transcription	GM12878-XiMat	blood
18	chr16:30585000-30594200	Weak transcription	Fetal Heart	heart
19	chr16:30587200-30595800	Strong transcription	Fetal Intestine Small	intestine
20	chr16:30587400-30593600	Weak transcription	Hela-S3	cervix
21	chr16:30587800-30595600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30587800-30595600	Strong transcription	Fetal Stomach	stomach
23	chr16:30588000-30595600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:30588400-30595400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr16:30588400-30595400	Strong transcription	Fetal Thymus	thymus
26	chr16:30588600-30601600	Weak transcription	HepG2	liver
27	chr16:30589200-30593400	Strong transcription	Placenta	Placenta
28	chr16:30589200-30594800	Strong transcription	Ovary	ovary
29	chr16:30589200-30595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:30590000-30593400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:30590200-30595400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:30590200-30595600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:30590400-30594600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:30590800-30593400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:30590800-30593600	Weak transcription	Brain Substantia Nigra	brain
36	chr16:30591000-30593400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:30591200-30593400	Weak transcription	Osteobl	bone
38	chr16:30591200-30596000	Weak transcription	HSMMtube	muscle
39	chr16:30591800-30595600	Strong transcription	Brain Anterior Caudate	brain
40	chr16:30592000-30595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:30592000-30596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:30592200-30593800	Strong transcription	Primary B cells from cord blood	blood
43	chr16:30592200-30595400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:30592200-30595600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:30592400-30595200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr16:30592400-30595200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:30592400-30595400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:30592400-30595400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:30592600-30593200	Genic enhancers	Colon Smooth Muscle	Colon
50	chr16:30592600-30594800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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