Variant report

Variant	rs16954527
Chromosome Location	chr16:81081973-81081974
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81079864..81081981-chr16:81082304..81084589,2	MCF-7	breast:
2	chr16:81068052..81071215-chr16:81080209..81082319,3	MCF-7	breast:
3	chr16:81080745..81083107-chr16:81231797..81233650,2	MCF-7	breast:
4	chr16:81073681..81077156-chr16:81081079..81084155,3	MCF-7	breast:
5	chr16:81080653..81082343-chr16:81109748..81111286,2	MCF-7	breast:
6	chr16:81039673..81042304-chr16:81079605..81082488,2	MCF-7	breast:
7	chr16:81081030..81085437-chr16:81085906..81090062,5	MCF-7	breast:
8	chr16:81076434..81078165-chr16:81078716..81082306,3	MCF-7	breast:
9	chr16:81081881..81083637-chr16:81109528..81112357,2	K562	blood:
10	chr16:81068994..81072999-chr16:81079171..81083841,7	MCF-7	breast:
11	chr16:81072851..81076497-chr16:81077627..81082197,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166454	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000261141	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2316924	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv457564	chr16:81080366-81095091	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv457565	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv457566	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv457567	chr16:81080366-81095091	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv457568	chr16:81080366-81095091	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv457569	chr16:81080366-81095091	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv573346	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81071200-81082000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:81071200-81082400	Weak transcription	Stomach Mucosa	stomach
3	chr16:81074000-81082400	Weak transcription	Fetal Heart	heart
4	chr16:81077000-81094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:81077200-81082200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:81078000-81083600	Weak transcription	Brain Angular Gyrus	brain
7	chr16:81078800-81082000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:81078800-81083800	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:81079200-81082000	Weak transcription	Brain Substantia Nigra	brain
10	chr16:81079200-81082000	Weak transcription	HepG2	liver
11	chr16:81079200-81082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:81079400-81082000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:81079400-81082000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:81079400-81082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:81079400-81082000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:81079400-81082000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:81079400-81082200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:81079400-81083600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:81079400-81083800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:81079400-81094400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:81079400-81109800	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:81079600-81082200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:81079800-81082000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:81079800-81083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:81079800-81094200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:81079800-81094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:81080000-81082000	Weak transcription	A549	lung
28	chr16:81080200-81082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:81080200-81082400	Weak transcription	Primary T cells from cord blood	blood
30	chr16:81080400-81082000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:81080400-81082200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:81080400-81110200	Weak transcription	Ovary	ovary
33	chr16:81080600-81082200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:81080800-81083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:81081400-81082400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:81081400-81082400	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr16:81081600-81082000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:81081600-81082200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81081600-81082200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr16:81081600-81082200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:81081600-81082400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:81081600-81082400	ZNF genes & repeats	Brain Germinal Matrix	brain
43	chr16:81081600-81082800	ZNF genes & repeats	Fetal Brain Female	brain
44	chr16:81081600-81083800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr16:81081800-81082000	ZNF genes & repeats	Placenta	Placenta
46	chr16:81081800-81082200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:81081800-81082200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:81081800-81082200	ZNF genes & repeats	Gastric	stomach
49	chr16:81081800-81082200	ZNF genes & repeats	Lung	lung
50	chr16:81081800-81082200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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