Variant report

Variant	rs12448089
Chromosome Location	chr16:81962627-81962628
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	POLR2A	chr16:81962140-81963006	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:81962226-81963795	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:81962492-81962905	HCT-116	colon:	n/a	n/a
4	HCFC1	chr16:81962559-81962783	K562	blood:	n/a	n/a
5	POLR2A	chr16:81962586-81962955	GM12878	blood:	n/a	n/a
6	EGR1	chr16:81962436-81963021	HCT-116	colon:	n/a	chr16:81962705-81962714 chr16:81962705-81962715
7	POLR2A	chr16:81962544-81962975	K562	blood:	n/a	n/a
8	SPI1	chr16:81962515-81962730	K562	blood:	n/a	n/a
9	EGR1	chr16:81962251-81963138	HCT-116	colon:	n/a	chr16:81962705-81962714 chr16:81962705-81962715
10	TBP	chr16:81962616-81962646	K562	blood:	n/a	n/a
11	POLR2A	chr16:81962425-81963093	GM12892	blood:	n/a	n/a
12	MYC	chr16:81962624-81962848	K562	blood:	n/a	n/a
13	POLR2A	chr16:81962493-81962912	K562	blood:	n/a	n/a
14	MYC	chr16:81962550-81963037	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:81962345-81962994	GM12891	blood:	n/a	n/a
16	JUND	chr16:81962586-81962798	K562	blood:	n/a	n/a
17	EGR1	chr16:81962477-81962883	K562	blood:	n/a	chr16:81962705-81962714 chr16:81962705-81962715
18	POLR2A	chr16:81962487-81962861	HCT-116	colon:	n/a	n/a
19	MAX	chr16:81962600-81962858	K562	blood:	n/a	n/a
20	RCOR1	chr16:81962602-81962843	K562	blood:	n/a	n/a
21	POLR2A	chr16:81962509-81962829	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr16:81962555-81962855	K562	blood:	n/a	n/a
23	ELF1	chr16:81962478-81962968	GM12878	blood:	n/a	chr16:81962665-81962678
24	POLR2A	chr16:81962363-81962959	GM12891	blood:	n/a	n/a
25	ELF1	chr16:81962468-81962913	K562	blood:	n/a	chr16:81962665-81962678
26	HEY1	chr16:81962461-81962884	K562	blood:	n/a	n/a
27	MAX	chr16:81962436-81962984	K562	blood:	n/a	n/a
28	ELF1	chr16:81962523-81962768	HepG2	liver:	n/a	chr16:81962665-81962678
29	MAZ	chr16:81962567-81962821	K562	blood:	n/a	n/a
30	ELF1	chr16:81962445-81962982	K562	blood:	n/a	chr16:81962665-81962678
31	POLR2A	chr16:81962517-81963051	GM12892	blood:	n/a	n/a
32	EGR1	chr16:81962525-81962922	K562	blood:	n/a	chr16:81962705-81962714 chr16:81962705-81962715
33	CBX3	chr16:81962524-81962920	K562	blood:	n/a	n/a
34	POLR2A	chr16:81962453-81962967	K562	blood:	n/a	n/a
35	POLR2A	chr16:81962597-81962822	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:81962480-81962843	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81959537..81963642-chr16:81965973..81970581,4	K562	blood:
2	chr16:81947720..81949312-chr16:81961811..81964487,2	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12445489	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12446596	0.93[EUR][1000 genomes]
rs12448088	0.85[ASN][1000 genomes]
rs17202296	0.81[EUR][1000 genomes]
rs4243224	0.86[EUR][1000 genomes]
rs4366702	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4888190	0.87[EUR][1000 genomes]
rs4889442	0.87[EUR][1000 genomes]
rs8063604	0.87[EUR][1000 genomes]
rs8063728	0.87[EUR][1000 genomes]
rs9931137	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
6	chr16:81936000-81982000	Weak transcription	Gastric	stomach
7	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:81941600-81966000	Weak transcription	Placenta	Placenta
10	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
13	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
14	chr16:81951400-81971400	Weak transcription	Left Ventricle	heart
15	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81952600-81970600	Strong transcription	Spleen	Spleen
18	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
19	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr16:81952800-81984600	Strong transcription	Liver	Liver
21	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
23	chr16:81955400-81970200	Weak transcription	Brain Substantia Nigra	brain
24	chr16:81956400-81971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:81956400-81971600	Weak transcription	Fetal Kidney	kidney
26	chr16:81957000-81971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:81958200-81962800	Strong transcription	Fetal Intestine Small	intestine
28	chr16:81959600-81983800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:81960000-81966000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:81960000-81969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:81960200-81966600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr16:81960600-81965600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:81960600-81982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81960800-81963800	Strong transcription	Adipose Nuclei	Adipose
35	chr16:81961200-81963600	Strong transcription	Colonic Mucosa	Colon
36	chr16:81961200-81963800	Strong transcription	Lung	lung
37	chr16:81961600-81963000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:81961600-81963600	Enhancers	Esophagus	oesophagus
39	chr16:81961600-81984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:81961800-81963600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr16:81962000-81963000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:81962000-81963600	Enhancers	HMEC	breast
43	chr16:81962000-81966600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:81962200-81962800	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr16:81962200-81962800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr16:81962200-81963000	Strong transcription	Fetal Stomach	stomach
47	chr16:81962200-81963000	Enhancers	Stomach Mucosa	stomach
48	chr16:81962200-81963600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81962200-81963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:81962200-81963600	Enhancers	NHEK	skin

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