Variant report

Variant	rs71386977
Chromosome Location	chr16:72756598-72756599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72748314..72750943-chr16:72756262..72758683,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12598219	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12922589	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34889159	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62051554	0.82[ASN][1000 genomes]
rs8044476	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking 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	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv572958	chr16:72696112-72778617	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72746400-72760800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:72747800-72757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:72750600-72757200	Weak transcription	Dnd41	blood
4	chr16:72750600-72763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:72754200-72759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:72755400-72756800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:72755400-72757200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr16:72755400-72757400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:72755400-72757800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr16:72755600-72756600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:72755600-72756600	Enhancers	K562	blood
12	chr16:72755600-72757200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:72755600-72758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:72755600-72758000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72755800-72757000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:72756000-72756800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:72756000-72757000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr16:72756000-72757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:72756200-72756600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:72756200-72756800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr16:72756200-72756800	Enhancers	Brain Hippocampus Middle	brain
22	chr16:72756200-72757000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:72756200-72757000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr16:72756400-72756600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr16:72756400-72756600	Enhancers	Brain Germinal Matrix	brain
26	chr16:72756400-72756600	Enhancers	Ovary	ovary
27	chr16:72756400-72757000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:72756400-72757000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr16:72756400-72757200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:72756400-72757200	Enhancers	Brain Substantia Nigra	brain

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