Variant report

Variant	rs6499545
Chromosome Location	chr16:71889173-71889174
allele	A/C/G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71884897..71886779-chr16:71887255..71889485,3	MCF-7	breast:
2	chr16:71888248..71890946-chr16:71905303..71908907,3	K562	blood:
3	chr16:71888248..71889838-chr16:71906653..71908907,2	K562	blood:
4	chr16:71884164..71890391-chr16:71916479..71919375,6	K562	blood:
5	chr16:71887357..71889780-chr16:72133363..72136348,2	MCF-7	breast:
6	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:
7	chr16:71842585..71844917-chr16:71887478..71890052,2	MCF-7	breast:
8	chr16:71887875..71889852-chr16:71917201..71919803,2	MCF-7	breast:
9	chr16:71887515..71889704-chr16:71893205..71894895,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140829	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11075908	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11075911	0.84[EUR][1000 genomes]
rs11648353	0.83[EUR][1000 genomes]
rs11648530	0.84[EUR][1000 genomes]
rs11649672	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12102548	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12444829	0.91[EUR][1000 genomes]
rs12447045	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12449139	0.91[EUR][1000 genomes]
rs12599192	0.86[EUR][1000 genomes]
rs12921084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926041	0.87[EUR][1000 genomes]
rs12926300	0.86[EUR][1000 genomes]
rs12930744	0.83[EUR][1000 genomes]
rs12935795	0.83[EUR][1000 genomes]
rs13329779	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1834034	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1834035	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1981874	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008675	0.81[EUR][1000 genomes]
rs2018384	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2288029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288031	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335709	0.91[EUR][1000 genomes]
rs2335710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335715	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28697038	0.89[EUR][1000 genomes]
rs2878492	0.84[EUR][1000 genomes]
rs3794692	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788446	0.81[EUR][1000 genomes]
rs4788447	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788449	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788562	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788563	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788566	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788571	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788576	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788581	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788582	0.85[EUR][1000 genomes]
rs4788584	0.84[EUR][1000 genomes]
rs4788585	0.84[EUR][1000 genomes]
rs62053803	0.84[EUR][1000 genomes]
rs6499542	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6499551	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6499552	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7184437	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7184486	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7187129	0.92[EUR][1000 genomes]
rs7193731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7204708	0.83[EUR][1000 genomes]
rs7205154	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8044342	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8046859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8050651	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8051038	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8054111	0.81[EUR][1000 genomes]
rs8054175	0.81[EUR][1000 genomes]
rs8054403	0.80[EUR][1000 genomes]
rs8057124	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8058118	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8059053	0.91[EUR][1000 genomes]
rs8062946	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8063324	0.88[EUR][1000 genomes]
rs8063403	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9302631	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9302632	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9806882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9806905	0.82[EUR][1000 genomes]
rs9888748	0.83[EUR][1000 genomes]
rs9889011	0.83[EUR][1000 genomes]
rs9921412	0.84[EUR][1000 genomes]
rs9932922	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9934803	0.86[EUR][1000 genomes]
rs9934812	0.86[EUR][1000 genomes]
rs9937936	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71889400	Weak transcription	Psoas Muscle	Psoas
3	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
4	chr16:71881800-71889200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:71881800-71890000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71881800-71890200	Strong transcription	Placenta	Placenta
7	chr16:71881800-71890200	Strong transcription	Osteobl	bone
8	chr16:71881800-71890400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:71881800-71890800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:71881800-71890800	Strong transcription	Fetal Muscle Leg	muscle
11	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:71882000-71889400	Strong transcription	Brain Anterior Caudate	brain
19	chr16:71882000-71890200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:71882000-71890400	Strong transcription	Primary hematopoietic stem cells	blood
21	chr16:71882000-71890600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
23	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71882200-71889400	Strong transcription	Brain Angular Gyrus	brain
25	chr16:71882200-71890400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:71882400-71889800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr16:71882400-71890600	Strong transcription	Brain Hippocampus Middle	brain
28	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
29	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:71882600-71889200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:71882600-71890200	Strong transcription	Lung	lung
32	chr16:71882800-71889400	Strong transcription	Gastric	stomach
33	chr16:71883600-71897000	Weak transcription	Hela-S3	cervix
34	chr16:71883800-71889600	Strong transcription	Fetal Lung	lung
35	chr16:71884600-71892000	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr16:71884600-71893000	Weak transcription	Fetal Kidney	kidney
37	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:71885000-71893800	Weak transcription	NH-A	brain
39	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
40	chr16:71885400-71892800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:71885400-71893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:71885600-71892000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr16:71885600-71898000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
45	chr16:71885800-71889200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:71885800-71892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:71886000-71892200	Weak transcription	Ovary	ovary
48	chr16:71886000-71893000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr16:71886000-71893400	Weak transcription	Colonic Mucosa	Colon
50	chr16:71886000-71893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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