Variant report

Variant	rs73582278
Chromosome Location	chr16:71814366-71814367
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	chr16:71809511..71811368-chr16:71813247..71816023,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13334187	0.83[AFR][1000 genomes]
rs13334255	0.83[AFR][1000 genomes]
rs13334566	0.83[AFR][1000 genomes]
rs13334617	1.00[AMR][1000 genomes]
rs13335391	1.00[AMR][1000 genomes]
rs13337119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337224	0.83[AFR][1000 genomes]
rs28436203	0.95[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	1.00[AMR][1000 genomes]
rs28487278	0.90[AFR][1000 genomes]
rs28711364	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757746	0.90[AFR][1000 genomes]
rs34113755	0.91[AFR][1000 genomes]
rs57187537	0.83[AFR][1000 genomes]
rs59358880	1.00[AMR][1000 genomes]
rs6499544	1.00[AMR][1000 genomes]
rs6499549	1.00[AMR][1000 genomes]
rs7186536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191105	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198387	1.00[AMR][1000 genomes]
rs7198645	0.83[AFR][1000 genomes]
rs7202000	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73580232	0.83[AFR][1000 genomes]
rs73582208	0.83[AFR][1000 genomes]
rs73582231	0.86[AFR][1000 genomes]
rs73582271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590035	1.00[AMR][1000 genomes]
rs73590051	1.00[AMR][1000 genomes]
rs74027713	1.00[AMR][1000 genomes]
rs8045275	1.00[AMR][1000 genomes]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	1.00[AMR][1000 genomes]
rs8059131	0.96[AFR][1000 genomes]
rs8063658	0.86[AFR][1000 genomes]
rs9673858	1.00[AMR][1000 genomes]
rs9921383	1.00[AMR][1000 genomes]
rs9923154	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923213	1.00[AMR][1000 genomes]
rs9924829	0.83[AFR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9925712	0.90[AFR][1000 genomes]
rs9927004	0.81[AFR][1000 genomes]
rs9928365	1.00[AMR][1000 genomes]
rs9930271	0.93[AFR][1000 genomes]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933587	0.86[AFR][1000 genomes]
rs9933862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.81[AFR][1000 genomes]
rs9937049	1.00[AMR][1000 genomes]
rs9937974	1.00[AMR][1000 genomes]
rs9941356	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
4	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
5	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71805200-71821200	Weak transcription	K562	blood
13	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
15	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney
16	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
17	chr16:71807600-71814600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:71807600-71815000	Weak transcription	NH-A	brain
19	chr16:71807600-71815200	Weak transcription	NHDF-Ad	bronchial
20	chr16:71807600-71816600	Weak transcription	Brain Angular Gyrus	brain
21	chr16:71807600-71816600	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:71807600-71817400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:71807600-71821200	Weak transcription	Fetal Brain Male	brain
24	chr16:71807800-71815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:71807800-71816800	Weak transcription	Brain Anterior Caudate	brain
26	chr16:71807800-71822600	Weak transcription	Aorta	Aorta
27	chr16:71808000-71820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:71808000-71829800	Weak transcription	NHLF	lung
29	chr16:71808200-71820200	Weak transcription	Right Ventricle	heart
30	chr16:71808200-71821200	Weak transcription	Colonic Mucosa	Colon
31	chr16:71808400-71815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
33	chr16:71808600-71814600	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:71808600-71815400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:71808600-71820600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71808600-71821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:71808800-71815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:71808800-71821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:71809400-71816000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:71810200-71814400	Weak transcription	Primary B cells from cord blood	blood
41	chr16:71810400-71816000	Weak transcription	HSMM	muscle
42	chr16:71810400-71820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:71810600-71821400	Weak transcription	HUVEC	blood vessel
44	chr16:71811000-71815000	Strong transcription	Fetal Intestine Small	intestine
45	chr16:71811000-71815600	Strong transcription	Fetal Intestine Large	intestine
46	chr16:71811400-71814600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:71811600-71817000	Strong transcription	GM12878-XiMat	blood
48	chr16:71811800-71814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:71811800-71814600	Weak transcription	Left Ventricle	heart
50	chr16:71811800-71814800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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