Variant report

Variant	rs55702379
Chromosome Location	chr16:71907561-71907562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71905721..71907635-chr16:71928494..71930212,2	MCF-7	breast:
2	chr16:71888248..71890946-chr16:71905303..71908907,3	K562	blood:
3	chr16:71888248..71889838-chr16:71906653..71908907,2	K562	blood:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035543	0.81[EUR][1000 genomes]
rs12600153	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12600163	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13332113	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13332180	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13337118	0.85[EUR][1000 genomes]
rs1834033	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2291947	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34111614	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4538017	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788448	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788567	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788572	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788574	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788578	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56309616	0.88[EUR][1000 genomes]
rs60075093	0.84[EUR][1000 genomes]
rs60740701	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7350856	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs952159	0.86[EUR][1000 genomes]
rs952160	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9925441	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9925684	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9936965	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937626	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
7	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
8	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
9	chr16:71888000-71916400	Weak transcription	NHEK	skin
10	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:71890200-71913000	Weak transcription	Osteobl	bone
12	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:71896000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:71896000-71913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:71896800-71916600	Weak transcription	NHLF	lung
19	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
22	chr16:71898400-71912400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
24	chr16:71898600-71912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:71898800-71912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:71899000-71909000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:71899000-71910400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr16:71899000-71912800	Weak transcription	Left Ventricle	heart
32	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71899000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:71899000-71913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:71899000-71914200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
38	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
39	chr16:71899200-71914200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:71899400-71908600	Weak transcription	Placenta	Placenta
41	chr16:71899400-71912800	Weak transcription	Fetal Brain Male	brain
42	chr16:71899400-71914400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:71899600-71909800	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:71899600-71909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:71899600-71910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:71899600-71913000	Weak transcription	Thymus	Thymus
47	chr16:71899600-71914200	Weak transcription	Spleen	Spleen
48	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
49	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
50	chr16:71900200-71912400	Weak transcription	NH-A	brain

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