Variant report

Variant	rs556280078
Chromosome Location	chr16:81812888-81812889
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	TCF3	chr16:81812613-81813219	GM12878	blood:	n/a	chr16:81813000-81813014
2	MAX	chr16:81812653-81813059	K562	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
3	GABPA	chr16:81812775-81813114	H1-hESC	embryonic stem cell:	n/a	chr16:81812963-81812972
4	CREB1	chr16:81812583-81813058	A549	lung:	n/a	chr16:81812865-81812878
5	USF1	chr16:81812778-81813009	HepG2	liver:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
6	MAX	chr16:81812727-81812965	K562	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81812865-81812878 chr16:81812752-81812762
7	USF1	chr16:81812647-81813076	A549	lung:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
8	MTA3	chr16:81812830-81814386	GM12878	blood:	n/a	n/a
9	CTCF	chr16:81812858-81812980	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:81812576-81813693	GM18526	blood:	n/a	n/a
11	CTCF	chr16:81812881-81812965	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:81812636-81814702	GM12878	blood:	n/a	n/a
13	USF1	chr16:81812590-81813156	HCT-116	colon:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
14	ATF3	chr16:81812700-81813020	K562	blood:	n/a	chr16:81812856-81812876 chr16:81812754-81812763
15	CHD2	chr16:81812731-81813058	GM12878	blood:	n/a	n/a
16	USF1	chr16:81812611-81813062	H1-hESC	embryonic stem cell:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
17	MAZ	chr16:81812492-81813062	GM12878	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
18	MYC	chr16:81812727-81813042	K562	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
19	POLR2A	chr16:81812844-81812981	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:81812861-81813033	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr16:81812758-81814350	GM12878	blood:	n/a	n/a
22	MAZ	chr16:81812595-81813047	K562	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
23	HMGN3	chr16:81812570-81813563	K562	blood:	n/a	n/a
24	HA-E2F1	chr16:81812458-81813570	MCF-7	breast:	n/a	n/a
25	USF1	chr16:81812696-81813081	SK-N-SH_RA	brain:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
26	POLR2A	chr16:81812749-81813115	K562	blood:	n/a	n/a
27	USF1	chr16:81812747-81812994	HepG2	liver:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
28	POLR2A	chr16:81812581-81814339	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:81812731-81813079	MCF-7	breast:	n/a	n/a
30	YY1	chr16:81812637-81813054	H1-hESC	embryonic stem cell:	n/a	chr16:81812959-81812973 chr16:81812881-81812890 chr16:81812992-81813003
31	USF1	chr16:81812641-81813108	ECC-1	luminal epithelium:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
32	MAX	chr16:81812428-81813062	H1-hESC	embryonic stem cell:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
33	BHLHE40	chr16:81812545-81813116	K562	blood:	n/a	chr16:81812903-81812919
34	POLR2A	chr16:81812548-81814276	GM15510	blood:	n/a	n/a
35	POLR2A	chr16:81812650-81813126	K562	blood:	n/a	n/a
36	POLR2A	chr16:81812810-81813102	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr16:81812652-81813040	A549	lung:	n/a	n/a
38	MAX	chr16:81812633-81813613	NB4	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
39	CCNT2	chr16:81812569-81813491	K562	blood:	n/a	n/a
40	POLR2A	chr16:81812813-81813028	Hela-S3	cervix:	n/a	n/a
41	NRF1	chr16:81812713-81813002	GM12878	blood:	n/a	chr16:81812754-81812763 chr16:81812963-81812972
42	USF1	chr16:81812655-81813068	GM12878	blood:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
43	RAD21	chr16:81812630-81813140	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr16:81812485-81813104	ECC-1	luminal epithelium:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
45	USF2	chr16:81812697-81813066	GM12878	blood:	n/a	chr16:81812865-81812876 chr16:81812903-81812919
46	CTCF	chr16:81812783-81812985	Spleen_OC	spleen:	n/a	n/a
47	POLR2A	chr16:81812557-81813141	HCT-116	colon:	n/a	n/a
48	CTCF	chr16:81812740-81813042	GM12878	blood:	n/a	n/a
49	YY1	chr16:81812483-81813090	GM12892	blood:	n/a	chr16:81812959-81812973 chr16:81812881-81812890 chr16:81812992-81813003
50	YY1	chr16:81812594-81813073	K562	blood:	n/a	chr16:81812959-81812973 chr16:81812881-81812890 chr16:81812992-81813003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3343864	chr16:81812151-81814049	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81811800-81813400	Active TSS	K562	blood
2	chr16:81812000-81813200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:81812200-81813000	Active TSS	NHEK	skin
5	chr16:81812200-81813600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr16:81812200-81813600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:81812200-81813800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr16:81812200-81813800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr16:81812200-81814000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr16:81812200-81814000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr16:81812200-81814200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:81812200-81814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:81812200-81814200	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr16:81812400-81813000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:81812400-81813000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:81812400-81813000	Active TSS	Colonic Mucosa	Colon
19	chr16:81812400-81813000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr16:81812400-81813000	Bivalent/Poised TSS	NH-A	brain
21	chr16:81812400-81813200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:81812400-81813200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:81812400-81813200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81812400-81813200	Active TSS	HUVEC	blood vessel
25	chr16:81812400-81813400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr16:81812400-81813400	Active TSS	Liver	Liver
27	chr16:81812400-81813400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:81812400-81813400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr16:81812400-81813400	Active TSS	Lung	lung
30	chr16:81812400-81813400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr16:81812400-81813400	Active TSS	Rectal Smooth Muscle	rectum
32	chr16:81812400-81813400	Active TSS	A549	lung
33	chr16:81812400-81813600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:81812400-81813600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:81812400-81813600	Active TSS	Brain Anterior Caudate	brain
36	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr16:81812400-81813600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:81812400-81813600	Active TSS	Hela-S3	cervix
40	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:81812400-81813800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81812400-81813800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:81812400-81813800	Active TSS	Colon Smooth Muscle	Colon
45	chr16:81812400-81813800	Active TSS	Left Ventricle	heart
46	chr16:81812400-81814000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:81812400-81814000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr16:81812400-81814000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr16:81812400-81814000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr16:81812400-81814000	Active TSS	Pancreatic Islets	Pancreatic Islet

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