Variant report

Variant	rs28538445
Chromosome Location	chr16:82180523-82180524
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	chr16:82170213..82174323-chr16:82178396..82183619,5	MCF-7	breast:
2	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12102935	1.00[AMR][1000 genomes]
rs13334127	1.00[AMR][1000 genomes]
rs13334207	1.00[AMR][1000 genomes]
rs28521974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533383	1.00[AMR][1000 genomes]
rs28556979	1.00[AMR][1000 genomes]
rs28576934	1.00[AMR][1000 genomes]
rs28612577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28656939	1.00[AMR][1000 genomes]
rs8056367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9888927	1.00[AMR][1000 genomes]
rs9922019	0.82[AFR][1000 genomes]
rs9923195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926005	0.95[AFR][1000 genomes]
rs9926552	1.00[AMR][1000 genomes]
rs9932998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940909	1.00[AMR][1000 genomes]
rs9940948	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	nsv457580	chr16:82165183-82182104	Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv573369	chr16:82165183-82182104	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82167600-82180600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:82168000-82181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:82168400-82180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
8	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:82168800-82180600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:82168800-82180600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:82168800-82180800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:82168800-82182000	Weak transcription	NH-A	brain
13	chr16:82169200-82180600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:82170000-82180800	Weak transcription	Fetal Lung	lung
15	chr16:82170800-82180600	Weak transcription	Left Ventricle	heart
16	chr16:82170800-82180600	Weak transcription	Lung	lung
17	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:82171000-82180600	Weak transcription	Colonic Mucosa	Colon
19	chr16:82171000-82180800	Weak transcription	Right Ventricle	heart
20	chr16:82171200-82185800	Weak transcription	Fetal Intestine Small	intestine
21	chr16:82171200-82193400	Weak transcription	Ovary	ovary
22	chr16:82171400-82180600	Weak transcription	Spleen	Spleen
23	chr16:82171600-82180600	Weak transcription	Osteobl	bone
24	chr16:82172000-82180600	Weak transcription	GM12878-XiMat	blood
25	chr16:82172600-82180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:82172600-82180600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:82173000-82180600	Weak transcription	Gastric	stomach
29	chr16:82173200-82180600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:82173200-82182400	Weak transcription	Fetal Intestine Large	intestine
31	chr16:82173400-82180600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:82173400-82180600	Weak transcription	NHEK	skin
33	chr16:82173400-82180800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:82173400-82185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:82176000-82180600	Weak transcription	Small Intestine	intestine
37	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
39	chr16:82177800-82180600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:82178200-82180800	Weak transcription	Pancreas	Pancrea
41	chr16:82179000-82180600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:82179000-82184200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:82179000-82184600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:82179000-82184800	Strong transcription	Dnd41	blood
45	chr16:82179000-82185400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:82179000-82186000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:82179000-82186400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:82179000-82187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr16:82179200-82180600	Enhancers	Brain Angular Gyrus	brain
50	chr16:82179200-82180800	Weak transcription	Psoas Muscle	Psoas

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