Variant report

Variant	rs1985323
Chromosome Location	chr16:47921994-47921995
allele	A/G
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	MAFF	chr16:47921889-47922381	HepG2	liver:	n/a	n/a
2	JUND	chr16:47921524-47922394	H1-hESC	embryonic stem cell:	n/a	chr16:47922259-47922271 chr16:47921704-47921715 chr16:47921706-47921718 chr16:47921708-47921716
3	FOSL2	chr16:47921953-47922474	A549	lung:	n/a	chr16:47922259-47922271
4	TCF12	chr16:47921917-47922593	A549	lung:	n/a	n/a
5	MAX	chr16:47921713-47922515	H1-hESC	embryonic stem cell:	n/a	chr16:47922289-47922298 chr16:47922287-47922300 chr16:47922287-47922302 chr16:47922289-47922298 chr16:47922288-47922298 chr16:47922290-47922297 chr16:47922288-47922299
6	TEAD4	chr16:47921892-47922587	SK-N-SH	brain:	n/a	chr16:47922224-47922233
7	MAX	chr16:47921946-47922735	A549	lung:	n/a	chr16:47922289-47922298 chr16:47922287-47922300 chr16:47922287-47922302 chr16:47922289-47922298 chr16:47922288-47922298 chr16:47922290-47922297 chr16:47922288-47922299
8	TEAD4	chr16:47921947-47922509	HepG2	liver:	n/a	chr16:47922224-47922233
9	SP1	chr16:47921885-47922564	A549	lung:	n/a	n/a
10	MAX	chr16:47921971-47922604	A549	lung:	n/a	chr16:47922289-47922298 chr16:47922287-47922300 chr16:47922287-47922302 chr16:47922289-47922298 chr16:47922288-47922298 chr16:47922290-47922297 chr16:47922288-47922299
11	EP300	chr16:47921306-47922333	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr16:47921917-47922536	A549	lung:	n/a	chr16:47922224-47922233
13	EP300	chr16:47921972-47922419	A549	lung:	n/a	n/a
14	TEAD4	chr16:47921984-47922558	ECC-1	luminal epithelium:	n/a	chr16:47922224-47922233

Variant related genes	Relation type
ENSG00000261325	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11076577	1.00[AMR][1000 genomes]
rs16945483	1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs4324153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6500353	0.83[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs6500354	0.90[AFR][1000 genomes]
rs7196906	1.00[EUR][1000 genomes]
rs7204738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205450	0.88[AFR][1000 genomes]
rs8048189	0.88[AFR][1000 genomes]
rs8057350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926879	0.83[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs9938295	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47917600-47923800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr16:47917800-47922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:47918000-47922800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:47918800-47922200	Weak transcription	Ovary	ovary
5	chr16:47918800-47923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:47918800-47926600	Weak transcription	Fetal Brain Female	brain
7	chr16:47919400-47923800	Weak transcription	Fetal Brain Male	brain
8	chr16:47920000-47922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:47920200-47922000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:47920200-47922200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:47920200-47922600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:47920200-47922800	Enhancers	HMEC	breast
13	chr16:47920200-47923000	Enhancers	NHEK	skin
14	chr16:47920400-47922000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr16:47920400-47922200	Enhancers	Brain Germinal Matrix	brain
16	chr16:47920400-47922400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr16:47920400-47922400	Enhancers	NH-A	brain
18	chr16:47920400-47922600	Enhancers	Placenta	Placenta
19	chr16:47920400-47922800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:47920400-47922800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr16:47920400-47922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:47920400-47922800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:47920400-47922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:47920600-47922200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:47920600-47923600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:47920800-47922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:47921000-47922800	Enhancers	HSMMtube	muscle
28	chr16:47921200-47922000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr16:47921200-47922000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr16:47921200-47922400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:47921200-47922800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr16:47921200-47922800	Enhancers	HSMM	muscle
33	chr16:47921400-47922000	Enhancers	NHDF-Ad	bronchial
34	chr16:47921400-47922200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr16:47921400-47922200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:47921400-47922200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:47921400-47922400	Enhancers	Psoas Muscle	Psoas
38	chr16:47921400-47922800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:47921600-47922000	Bivalent Enhancer	Fetal Kidney	kidney
40	chr16:47921600-47922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:47921600-47922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:47921600-47922600	Enhancers	Fetal Lung	lung
43	chr16:47921600-47931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:47921800-47922000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr16:47921800-47922000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr16:47921800-47922000	Flanking Active TSS	HepG2	liver
47	chr16:47921800-47922000	Flanking Active TSS	Osteobl	bone
48	chr16:47921800-47922200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr16:47921800-47922600	Flanking Active TSS	A549	lung
50	chr16:47921800-47922800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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