Variant report

Variant	rs73528516
Chromosome Location	chr16:31008243-31008244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30959192..30961458-chr16:31007681..31010044,2	K562	blood:
2	chr16:31007019..31009950-chr16:31086954..31088883,2	MCF-7	breast:
3	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
4	chr16:31007064..31010034-chr16:31018671..31022251,4	MCF-7	breast:
5	chr10:74033563..74034078-chr16:31008030..31008860,2	Hela-S3	cervix:
6	chr16:31007116..31008966-chr16:31160875..31162951,2	MCF-7	breast:
7	chr16:31007135..31009873-chr16:31190289..31192804,2	MCF-7	breast:
8	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
9	chr16:31007115..31010903-chr16:31041705..31047571,13	MCF-7	breast:
10	chr16:31008030..31008604-chr19:40502649..40503191,2	Hela-S3	cervix:
11	chr16:31007911..31010328-chr16:31084206..31087011,2	K562	blood:
12	chr16:31005622..31010168-chr16:31042261..31047356,7	K562	blood:
13	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
14	chr16:31007177..31009516-chr16:31100407..31102646,2	K562	blood:
15	chr16:31006807..31011358-chr16:31082999..31086095,12	MCF-7	breast:
16	chr16:31004521..31010198-chr16:31190050..31194376,11	K562	blood:
17	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
18	chr16:31008133..31009095-chr16:31153695..31154390,2	K562	blood:
19	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
20	chr16:31007263..31009136-chr16:31190228..31192701,2	MCF-7	breast:
21	chr16:31008194..31010118-chr16:31137008..31138912,2	MCF-7	breast:
22	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
23	chr11:66035872..66036377-chr16:31008172..31008955,2	Hela-S3	cervix:
24	chr16:31005971..31009224-chr16:31118025..31120468,3	K562	blood:
25	chr16:31004627..31008448-chr16:31105710..31107499,4	MCF-7	breast:
26	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
27	chr16:31005622..31009984-chr16:31042414..31045630,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178226	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12445568	0.91[AFR][1000 genomes]
rs13333418	0.80[AFR][1000 genomes]
rs2014236	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2199036	0.86[AFR][1000 genomes]
rs61185452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61400892	1.00[EUR][1000 genomes]
rs7203711	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9788865	0.82[ASN][1000 genomes]
rs9932822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
12	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
13	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
14	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30997600-31013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31000000-31008400	Weak transcription	Gastric	stomach
3	chr16:31007200-31009000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:31007600-31008400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:31007600-31008400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr16:31007600-31008600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr16:31007600-31008600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:31007600-31008600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr16:31007600-31008800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr16:31007600-31008800	Active TSS	Rectal Smooth Muscle	rectum
11	chr16:31007600-31009000	Active TSS	A549	lung
12	chr16:31007600-31009200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr16:31007600-31009400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:31007600-31010000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:31007800-31008400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr16:31007800-31008400	Enhancers	Brain Angular Gyrus	brain
17	chr16:31007800-31008400	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr16:31007800-31008400	Enhancers	Spleen	Spleen
19	chr16:31007800-31008600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:31007800-31008600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:31007800-31008600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr16:31007800-31008600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr16:31007800-31008600	Flanking Active TSS	Fetal Heart	heart
24	chr16:31007800-31008600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr16:31007800-31008600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr16:31007800-31008600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr16:31007800-31008800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:31007800-31008800	Active TSS	Brain Hippocampus Middle	brain
29	chr16:31007800-31008800	Active TSS	NHLF	lung
30	chr16:31007800-31009200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:31007800-31009200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr16:31007800-31009200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr16:31007800-31009200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr16:31007800-31009200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:31007800-31009200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:31007800-31009200	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr16:31007800-31009200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr16:31007800-31009200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:31007800-31009400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr16:31007800-31009400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr16:31007800-31009600	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr16:31007800-31009800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:31008000-31008400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:31008000-31008400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:31008000-31008400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:31008000-31008400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:31008000-31008400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr16:31008000-31008400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr16:31008000-31008400	Active TSS	HepG2	liver
50	chr16:31008000-31008600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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