Variant report

Variant	rs8057568
Chromosome Location	chr16:71811995-71811996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71810112..71812013-chr16:71817233..71818739,2	MCF-7	breast:
2	chr16:71809920..71813337-chr16:71827529..71832113,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11075903	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640830	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11641113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[ASN][1000 genomes]
rs11645704	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11648483	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11861296	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12447094	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12919271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928939	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935106	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053338	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34731378	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs71386932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202840	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049163	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051878	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:71770800-71813800	Strong transcription	Liver	Liver
5	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
6	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
9	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
10	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:71803000-71812200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:71803000-71812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:71805200-71821200	Weak transcription	K562	blood
21	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
23	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney
24	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
25	chr16:71807600-71814600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:71807600-71815000	Weak transcription	NH-A	brain
27	chr16:71807600-71815200	Weak transcription	NHDF-Ad	bronchial
28	chr16:71807600-71816600	Weak transcription	Brain Angular Gyrus	brain
29	chr16:71807600-71816600	Weak transcription	Brain Hippocampus Middle	brain
30	chr16:71807600-71817400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:71807600-71821200	Weak transcription	Fetal Brain Male	brain
32	chr16:71807800-71815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:71807800-71816800	Weak transcription	Brain Anterior Caudate	brain
34	chr16:71807800-71822600	Weak transcription	Aorta	Aorta
35	chr16:71808000-71820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:71808000-71829800	Weak transcription	NHLF	lung
37	chr16:71808200-71820200	Weak transcription	Right Ventricle	heart
38	chr16:71808200-71821200	Weak transcription	Colonic Mucosa	Colon
39	chr16:71808400-71815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
41	chr16:71808600-71814600	Weak transcription	Colon Smooth Muscle	Colon
42	chr16:71808600-71815400	Weak transcription	Brain Substantia Nigra	brain
43	chr16:71808600-71820600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr16:71808600-71821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:71808800-71815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:71808800-71821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:71809400-71816000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr16:71809600-71812400	Strong transcription	Fetal Thymus	thymus
49	chr16:71809600-71813400	Strong transcription	Dnd41	blood
50	chr16:71809600-71813600	Strong transcription	HepG2	liver

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