Variant report

Variant	rs28684824
Chromosome Location	chr16:82202913-82202914
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	POLR2A	chr16:82200674-82204569	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr16:82202498-82204512	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:82201936-82202954	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82171180..82173441-chr16:82201395..82203780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261029	TF binding region
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12102935	0.86[AFR][1000 genomes]
rs13334127	0.90[AFR][1000 genomes]
rs13334207	0.90[AFR][1000 genomes]
rs28423056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533383	0.86[AFR][1000 genomes]
rs28556979	0.83[AFR][1000 genomes]
rs28576934	0.83[AFR][1000 genomes]
rs28656939	0.86[AFR][1000 genomes]
rs9888927	0.90[AFR][1000 genomes]
rs9926552	0.90[AFR][1000 genomes]
rs9930174	0.81[AFR][1000 genomes]
rs9940909	0.86[AFR][1000 genomes]
rs9940948	0.83[AFR][1000 genomes]
rs9941306	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:82196400-82203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:82196400-82203400	Weak transcription	Aorta	Aorta
4	chr16:82196400-82203400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:82197200-82203000	Weak transcription	Gastric	stomach
6	chr16:82197200-82203000	Weak transcription	Left Ventricle	heart
7	chr16:82197200-82203000	Weak transcription	Pancreas	Pancrea
8	chr16:82197400-82203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:82199800-82203000	Weak transcription	Ovary	ovary
10	chr16:82200000-82203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:82201600-82203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:82201600-82203000	Weak transcription	Lung	lung
13	chr16:82201800-82203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:82201800-82203000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:82201800-82203000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:82202200-82203000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:82202200-82203000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:82202200-82203000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:82202200-82203000	Enhancers	Esophagus	oesophagus
20	chr16:82202200-82203000	Enhancers	Fetal Thymus	thymus
21	chr16:82202200-82203000	Flanking Active TSS	NHEK	skin
22	chr16:82202200-82203200	Flanking Active TSS	Dnd41	blood
23	chr16:82202200-82203400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr16:82202200-82204400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:82202400-82203000	Enhancers	Primary B cells from peripheral blood	blood
26	chr16:82202400-82203000	Flanking Active TSS	HepG2	liver
27	chr16:82202400-82203000	Flanking Active TSS	HMEC	breast
28	chr16:82202400-82203000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr16:82202400-82203000	Flanking Active TSS	NHLF	lung
30	chr16:82202400-82203200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:82202400-82203200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr16:82202400-82203200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr16:82202400-82203200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr16:82202400-82203200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:82202400-82203200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:82202400-82203200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr16:82202400-82203200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:82202400-82203200	Enhancers	Small Intestine	intestine
39	chr16:82202400-82203200	Flanking Active TSS	K562	blood
40	chr16:82202400-82203400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr16:82202400-82203400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:82202400-82203400	Enhancers	Spleen	Spleen
43	chr16:82202400-82203600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:82202400-82204000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:82202400-82204000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr16:82202400-82204000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr16:82202400-82204400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr16:82202400-82204400	Active TSS	HSMM	muscle
49	chr16:82202600-82203000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr16:82202600-82203000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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