Variant report

Variant	rs66989296
Chromosome Location	chr16:31466056-31466057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31463995-31468188	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31465994-31467675	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:31462676-31471558	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31224645..31227444-chr16:31465604..31467158,2	MCF-7	breast:
2	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
3	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
4	chr16:31190321..31192190-chr16:31465776..31467625,2	MCF-7	breast:
5	chr16:31060004..31062838-chr16:31465158..31467286,2	MCF-7	breast:
6	chr16:31463491..31466396-chr16:31481913..31484379,2	K562	blood:
7	chr16:31465139..31468071-chr16:31552229..31554191,2	K562	blood:
8	chr16:31465687..31467241-chr20:52208647..52210719,2	MCF-7	breast:
9	chr16:31203117..31206112-chr16:31465658..31467942,3	K562	blood:
10	chr16:31452353..31455604-chr16:31463840..31468906,4	MCF-7	breast:
11	chr16:31465181..31467985-chr16:31712716..31714571,2	MCF-7	breast:
12	chr16:31464355..31466816-chr16:31518466..31521334,2	K562	blood:
13	chr16:31407031..31409416-chr16:31465348..31468192,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF843-2	chr16:31460668-31470316	NONHSAT141904

No data

Variant related genes	Relation type
ENSG00000261474	TF binding region
ARMC5	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000176723	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4889658	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60239608	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051544	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8057193	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
9	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
10	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31454600-31466400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr16:31454800-31466400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:31454800-31466400	Weak transcription	Primary T cells from cord blood	blood
4	chr16:31454800-31466400	Weak transcription	Dnd41	blood
5	chr16:31454800-31466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:31457600-31466800	Weak transcription	Brain Germinal Matrix	brain
7	chr16:31462200-31466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:31462200-31466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:31462600-31469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:31462800-31466400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:31462800-31466600	Enhancers	Fetal Muscle Leg	muscle
12	chr16:31462800-31469000	Enhancers	NH-A	brain
13	chr16:31463000-31466800	Weak transcription	Fetal Brain Female	brain
14	chr16:31463000-31466800	Enhancers	NHLF	lung
15	chr16:31463000-31467200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:31463000-31467200	Enhancers	Placenta	Placenta
17	chr16:31463000-31467800	Enhancers	Psoas Muscle	Psoas
18	chr16:31463200-31466400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:31463200-31466400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:31463600-31466400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:31463800-31466200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:31463800-31468000	Weak transcription	Primary B cells from cord blood	blood
23	chr16:31463800-31469000	Enhancers	Esophagus	oesophagus
24	chr16:31464000-31467200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:31464000-31468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:31464400-31469200	Enhancers	Pancreas	Pancrea
27	chr16:31464600-31469200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:31464800-31466800	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:31465000-31466600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:31465000-31466800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:31465000-31467200	Weak transcription	Stomach Mucosa	stomach
32	chr16:31465200-31466200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:31465200-31466200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:31465200-31466200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr16:31465200-31466400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:31465200-31466400	Weak transcription	Brain Angular Gyrus	brain
37	chr16:31465200-31466400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr16:31465200-31466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:31465200-31466400	Weak transcription	Fetal Heart	heart
40	chr16:31465200-31466400	Weak transcription	Fetal Intestine Large	intestine
41	chr16:31465200-31466400	Weak transcription	Fetal Stomach	stomach
42	chr16:31465200-31466400	Weak transcription	Left Ventricle	heart
43	chr16:31465200-31466400	Weak transcription	Right Ventricle	heart
44	chr16:31465200-31466600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr16:31465200-31466600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:31465200-31466600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:31465200-31466600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:31465200-31466600	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:31465200-31466600	Enhancers	HSMM	muscle
50	chr16:31465200-31466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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