Variant report

Variant	rs62041345
Chromosome Location	chr16:79802985-79802986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839

No.	Distal block	Cell Line	Cell type
1	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
2	chr16:79801228..79803127-chr16:80136004..80138998,2	K562	blood:
3	chr16:79801918..79803553-chr16:80112816..80115650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260876	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs4313818	0.81[EUR][1000 genomes]
rs56006814	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56052219	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62041304	0.83[AFR][1000 genomes]
rs62041307	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62041308	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041309	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041310	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041311	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041312	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041313	0.85[EUR][1000 genomes]
rs62041316	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041317	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041318	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041319	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041320	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041323	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62041324	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62041325	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62041326	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62041327	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62041339	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62041344	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62041346	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62041347	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62041348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62041349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62043341	0.83[AFR][1000 genomes]
rs62043342	0.83[AFR][1000 genomes]
rs62043343	0.83[AFR][1000 genomes]
rs62043344	1.00[AFR][1000 genomes]
rs62043358	0.83[AFR][1000 genomes]
rs7187139	0.85[EUR][1000 genomes]
rs8053535	0.83[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79792800-79804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:79800600-79803400	Weak transcription	Gastric	stomach
3	chr16:79801200-79804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:79801400-79803600	Enhancers	Fetal Thymus	thymus
5	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:79801600-79803000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:79801600-79803000	Flanking Active TSS	Fetal Lung	lung
8	chr16:79801600-79803200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:79801600-79804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:79801600-79804000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:79801600-79804000	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:79801600-79804000	Enhancers	Esophagus	oesophagus
13	chr16:79801600-79804000	Enhancers	Fetal Kidney	kidney
14	chr16:79801600-79804000	Enhancers	Placenta	Placenta
15	chr16:79801600-79804000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr16:79801600-79804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:79801800-79803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:79801800-79803800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:79801800-79803800	Enhancers	Thymus	Thymus
20	chr16:79801800-79804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:79801800-79804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:79802000-79803600	Enhancers	Fetal Brain Female	brain
23	chr16:79802000-79803600	Weak transcription	Fetal Heart	heart
24	chr16:79802000-79803800	Enhancers	Brain Germinal Matrix	brain
25	chr16:79802000-79804000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:79802000-79804000	Enhancers	Primary T cells from cord blood	blood
27	chr16:79802000-79804000	Enhancers	Pancreas	Pancrea
28	chr16:79802000-79804000	Enhancers	Spleen	Spleen
29	chr16:79802200-79803000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr16:79802200-79803200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr16:79802200-79803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:79802200-79803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:79802200-79804000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:79802200-79804000	Enhancers	Stomach Mucosa	stomach
35	chr16:79802400-79803000	Enhancers	Primary B cells from peripheral blood	blood
36	chr16:79802400-79803000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr16:79802400-79803000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:79802400-79803600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:79802400-79803600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:79802400-79803600	Weak transcription	NH-A	brain
41	chr16:79802400-79803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:79802400-79803800	Enhancers	Fetal Intestine Large	intestine
43	chr16:79802400-79803800	Enhancers	Fetal Muscle Leg	muscle
44	chr16:79802400-79803800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr16:79802400-79804000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr16:79802400-79804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr16:79802400-79804000	Enhancers	Fetal Muscle Trunk	muscle
48	chr16:79802400-79804000	Enhancers	Fetal Stomach	stomach
49	chr16:79802400-79804000	Enhancers	Left Ventricle	heart
50	chr16:79802400-79804000	Enhancers	Small Intestine	intestine

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