Variant report

Variant	rs73582231
Chromosome Location	chr16:71785304-71785305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71785226..71787228-chr16:71840508..71842662,2	K562	blood:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11075896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	1.00[AMR][1000 genomes]
rs13334187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.90[AFR][1000 genomes]
rs13337224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712876	1.00[AMR][1000 genomes]
rs28757746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	1.00[AMR][1000 genomes]
rs57187537	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324033	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	0.85[AFR][1000 genomes]
rs7196013	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582271	0.86[AFR][1000 genomes]
rs73582274	0.86[AFR][1000 genomes]
rs73582278	0.86[AFR][1000 genomes]
rs73582282	0.86[AFR][1000 genomes]
rs8048170	1.00[AMR][1000 genomes]
rs8059131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062948	1.00[AMR][1000 genomes]
rs8063658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933862	0.85[AFR][1000 genomes]
rs9934778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.85[AFR][1000 genomes];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	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	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:71763400-71802200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:71763600-71786200	Strong transcription	Osteobl	bone
7	chr16:71763600-71793000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:71763600-71800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:71763600-71801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:71763800-71799600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr16:71764800-71802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:71767000-71787400	Weak transcription	Stomach Mucosa	stomach
17	chr16:71770400-71785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:71770600-71793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:71770600-71796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:71770600-71798600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:71770600-71799600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr16:71770800-71793200	Strong transcription	HSMM	muscle
23	chr16:71770800-71793600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:71770800-71795800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:71770800-71799600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:71770800-71813800	Strong transcription	Liver	Liver
28	chr16:71771000-71793200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
30	chr16:71773200-71786600	Weak transcription	Fetal Brain Male	brain
31	chr16:71774000-71785600	Strong transcription	Fetal Intestine Large	intestine
32	chr16:71774400-71788400	Weak transcription	Pancreas	Pancrea
33	chr16:71774400-71792200	Weak transcription	Aorta	Aorta
34	chr16:71777200-71799800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:71778400-71791800	Strong transcription	HepG2	liver
36	chr16:71779000-71788600	Strong transcription	GM12878-XiMat	blood
37	chr16:71779000-71793000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:71779800-71787400	Weak transcription	Fetal Heart	heart
40	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:71780400-71787200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:71781400-71786000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:71782000-71787200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:71782400-71786400	Weak transcription	HUVEC	blood vessel
45	chr16:71782400-71787200	Weak transcription	NHEK	skin
46	chr16:71782400-71787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:71782600-71787200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:71782600-71787200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:71782600-71787200	Weak transcription	Right Ventricle	heart
50	chr16:71782600-71787200	Weak transcription	Small Intestine	intestine

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