Variant report

Variant	rs60048183
Chromosome Location	chr16:30625461-30625462
allele	A/C
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	ZNF384	chr16:30625042-30625465	K562	blood:	n/a	n/a
2	SPI1	chr16:30625139-30625533	HL-60	blood:	n/a	chr16:30625314-30625321

No.	Distal block	Cell Line	Cell type
1	chr16:30621012..30622586-chr16:30622869..30625669,2	MCF-7	breast:
2	chr16:30625309..30627910-chr16:30669048..30671707,2	K562	blood:
3	chr16:30456792..30458556-chr16:30625138..30628133,2	MCF-7	breast:
4	chr14:35804352..35806289-chr16:30623113..30625899,2	MCF-7	breast:

Variant related genes	Relation type
ZNF689	TF binding region
ENSG00000156860	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000156853	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8044106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061273	0.89[AFR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30622000-30626600	Weak transcription	Fetal Lung	lung
2	chr16:30622000-30629200	Weak transcription	Lung	lung
3	chr16:30622200-30625800	Weak transcription	HepG2	liver
4	chr16:30622200-30626400	Weak transcription	Brain Germinal Matrix	brain
5	chr16:30622200-30626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:30622200-30626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:30622200-30626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:30622200-30626600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:30622200-30626600	Weak transcription	Fetal Kidney	kidney
10	chr16:30622200-30626600	Weak transcription	Fetal Muscle Leg	muscle
11	chr16:30622200-30626600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:30622200-30626600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:30622200-30626600	Weak transcription	A549	lung
14	chr16:30622200-30626600	Weak transcription	K562	blood
15	chr16:30622200-30626800	Weak transcription	Fetal Brain Female	brain
16	chr16:30622200-30626800	Weak transcription	Fetal Intestine Small	intestine
17	chr16:30622200-30629600	Weak transcription	Brain Angular Gyrus	brain
18	chr16:30622200-30630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:30622200-30630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:30622200-30630400	Weak transcription	Fetal Intestine Large	intestine
21	chr16:30622200-30630600	Weak transcription	HSMMtube	muscle
22	chr16:30622400-30626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:30622400-30626600	Weak transcription	Pancreas	Pancrea
24	chr16:30622400-30631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:30622600-30626600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:30622600-30626600	Weak transcription	Fetal Brain Male	brain
27	chr16:30622600-30630400	Weak transcription	Brain Substantia Nigra	brain
28	chr16:30622800-30626600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:30623400-30629000	Weak transcription	Dnd41	blood
30	chr16:30624800-30626800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr16:30625200-30625800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr16:30625200-30625800	Enhancers	Primary B cells from cord blood	blood
33	chr16:30625200-30625800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr16:30625200-30625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:30625200-30626800	Enhancers	Primary B cells from peripheral blood	blood
36	chr16:30625200-30626800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:30625200-30626800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr16:30625200-30627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:30625400-30625600	Enhancers	Fetal Thymus	thymus
40	chr16:30625400-30626000	Enhancers	Primary hematopoietic stem cells	blood

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