Variant report

Variant	rs5818351
Chromosome Location	chr16:81812420-81812421
allele	-/TTTA
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	CEBPB	chr16:81812097-81812436	Hela-S3	cervix:	n/a	n/a
2	MAX	chr16:81812336-81813129	A549	lung:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
3	BCL3	chr16:81812419-81812895	A549	lung:	n/a	chr16:81812632-81812641
4	USF1	chr16:81812302-81813104	HCT-116	colon:	n/a	chr16:81812903-81812919 chr16:81812865-81812876
5	ZEB1	chr16:81812408-81813178	GM12878	blood:	n/a	chr16:81813027-81813034
6	MAX	chr16:81812393-81813100	K562	blood:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
7	HDAC2	chr16:81812381-81813009	MCF-7	breast:	n/a	chr16:81812962-81812971
8	ARID3A	chr16:81812290-81812455	K562	blood:	n/a	n/a
9	SIN3A	chr16:81812376-81813101	H1-hESC	embryonic stem cell:	n/a	chr16:81813003-81813016 chr16:81812866-81812875 chr16:81812913-81812924 chr16:81812798-81812809
10	TEAD4	chr16:81812400-81812785	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr16:81812263-81813791	A549	lung:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
12	MAX	chr16:81812402-81813679	MCF-7	breast:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
13	MTA3	chr16:81812263-81812790	GM12878	blood:	n/a	n/a
14	ELF1	chr16:81812418-81813833	GM12878	blood:	n/a	chr16:81813182-81813194 chr16:81813006-81813018 chr16:81812712-81812724 chr16:81812909-81812918
15	TCF12	chr16:81812405-81812991	ECC-1	luminal epithelium:	n/a	chr16:81812590-81812597
16	E2F4	chr16:81812193-81812780	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr16:81812392-81812743	H1-hESC	embryonic stem cell:	n/a	chr16:81812590-81812597
18	TEAD4	chr16:81812405-81812801	A549	lung:	n/a	n/a

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81811800-81813400	Active TSS	K562	blood
2	chr16:81812000-81812600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:81812000-81812600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr16:81812000-81812600	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr16:81812000-81813200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr16:81812200-81812600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr16:81812200-81812600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr16:81812200-81812600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:81812200-81812600	Enhancers	Esophagus	oesophagus
11	chr16:81812200-81812600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr16:81812200-81812600	Enhancers	Small Intestine	intestine
13	chr16:81812200-81812600	Enhancers	Spleen	Spleen
14	chr16:81812200-81812800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr16:81812200-81812800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:81812200-81812800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr16:81812200-81812800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:81812200-81813000	Active TSS	NHEK	skin
19	chr16:81812200-81813600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr16:81812200-81813600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:81812200-81813800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr16:81812200-81813800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:81812200-81814000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr16:81812200-81814000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr16:81812200-81814200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr16:81812200-81814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81812200-81814200	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:81812400-81812600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:81812400-81812600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr16:81812400-81812600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr16:81812400-81812600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
36	chr16:81812400-81812600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr16:81812400-81812600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:81812400-81812600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:81812400-81812600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr16:81812400-81812600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:81812400-81812600	Active TSS	Brain Hippocampus Middle	brain
42	chr16:81812400-81812600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr16:81812400-81812600	Flanking Active TSS	Placenta	Placenta
46	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr16:81812400-81812600	Active TSS	Pancreas	Pancrea
48	chr16:81812400-81812600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr16:81812400-81812600	Flanking Active TSS	Right Ventricle	heart
50	chr16:81812400-81812600	Flanking Bivalent TSS/Enh	Thymus	Thymus

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