Variant report

Variant	rs9924213
Chromosome Location	chr16:81922480-81922481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81922129-81922992	GM12878	blood:	n/a	n/a
2	FOXA1	chr16:81922379-81923139	HepG2	liver:	n/a	n/a
3	FOS	chr16:81922366-81922665	MCF10A-Er-Src	breast:	n/a	n/a
4	NR2F2	chr16:81922049-81923179	MCF-7	breast:	n/a	n/a
5	CEBPB	chr16:81922366-81922662	K562	blood:	n/a	n/a
6	MAFK	chr16:81922277-81923015	HepG2	liver:	n/a	chr16:81922846-81922861
7	EP300	chr16:81922420-81923077	HepG2	liver:	n/a	n/a
8	NFIC	chr16:81922282-81923146	HepG2	liver:	n/a	n/a
9	HNF4A	chr16:81922426-81923007	HepG2	liver:	n/a	chr16:81922814-81922829
10	POLR2A	chr16:81922141-81923265	GM12878	blood:	n/a	n/a
11	MAX	chr16:81922261-81923150	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:81922261-81922702	HepG2	liver:	n/a	n/a
13	HNF4G	chr16:81922475-81923006	HepG2	liver:	n/a	n/a
14	MYC	chr16:81922394-81922922	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr16:81922312-81923023	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:81921963-81923014	GM12892	blood:	n/a	n/a
17	CEBPD	chr16:81922386-81922736	HepG2	liver:	n/a	n/a
18	FOS	chr16:81922272-81922652	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr16:81922287-81923159	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:81922179-81922711	GM12878	blood:	n/a	n/a
21	JUND	chr16:81922476-81922982	HepG2	liver:	n/a	n/a
22	CEBPB	chr16:81922141-81922730	MCF-7	breast:	n/a	n/a
23	CEBPB	chr16:81922368-81922693	A549	lung:	n/a	n/a
24	ARID3A	chr16:81922444-81923059	HepG2	liver:	n/a	n/a
25	STAT3	chr16:81922461-81922642	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr16:81922406-81922649	GM12878	blood:	n/a	n/a
27	MAFF	chr16:81922283-81923036	HepG2	liver:	n/a	chr16:81922844-81922862
28	MYBL2	chr16:81922456-81923059	HepG2	liver:	n/a	n/a
29	SP1	chr16:81922312-81923083	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:81921528-81922934	GM12892	blood:	n/a	n/a
31	MXI1	chr16:81922381-81922966	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:81922018-81922931	GM12891	blood:	n/a	n/a
33	CEBPB	chr16:81922351-81922716	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:81922400-81922645	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:81922369-81923025	HepG2	liver:	n/a	n/a
36	HNF4A	chr16:81922348-81923094	HepG2	liver:	n/a	chr16:81922814-81922829
37	POLR2A	chr16:81921987-81922994	GM12891	blood:	n/a	n/a
38	EP300	chr16:81922284-81923050	HepG2	liver:	n/a	n/a
39	MBD4	chr16:81922378-81923203	HepG2	liver:	n/a	n/a
40	NR2F2	chr16:81922419-81923030	HepG2	liver:	n/a	n/a
41	FOXA2	chr16:81922403-81923028	HepG2	liver:	n/a	n/a
42	CEBPB	chr16:81922317-81922667	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr16:81922479-81922984	HepG2	liver:	n/a	n/a
44	JUND	chr16:81922404-81923021	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:81921051-81923134	GM12891	blood:	n/a	n/a
46	HNF4G	chr16:81922378-81922998	HepG2	liver:	n/a	n/a
47	MYC	chr16:81922442-81922654	MCF10A-Er-Src	breast:	n/a	n/a
48	NFIC	chr16:81922422-81923008	HepG2	liver:	n/a	n/a
49	RXRA	chr16:81922317-81922958	HepG2	liver:	n/a	n/a
50	POLR2A	chr16:81921990-81922776	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81920300..81922553-chr16:81939895..81942461,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28482417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4485360	1.00[MEX][hapmap]
rs8191134	1.00[MEX][hapmap]
rs8191163	1.00[MEX][hapmap]
rs9924401	1.00[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9924213	HPYR1	trans	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
2	chr16:81900800-81925000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:81901000-81929200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:81901200-81925000	Weak transcription	Adipose Nuclei	Adipose
5	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
6	chr16:81905800-81943000	Weak transcription	Small Intestine	intestine
7	chr16:81907800-81925000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:81908000-81924400	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:81908200-81925000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:81908200-81936800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:81908400-81923600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:81908400-81950000	Strong transcription	GM12878-XiMat	blood
13	chr16:81908400-81950200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:81911400-81936400	Weak transcription	Pancreas	Pancrea
16	chr16:81913000-81923600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:81913400-81923600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:81913400-81934000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:81917200-81923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:81917400-81923800	Weak transcription	Fetal Intestine Large	intestine
21	chr16:81917600-81922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81917600-81923800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:81917600-81925000	Weak transcription	Lung	lung
24	chr16:81918000-81924800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:81919400-81935600	Strong transcription	Primary B cells from cord blood	blood
26	chr16:81919600-81923600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr16:81919800-81923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:81921200-81923000	Enhancers	Stomach Mucosa	stomach
30	chr16:81921200-81924400	Enhancers	HepG2	liver
31	chr16:81921200-81935600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr16:81921400-81922600	Weak transcription	A549	lung
33	chr16:81921800-81932200	Strong transcription	Spleen	Spleen
34	chr16:81922000-81923000	Enhancers	Placenta	Placenta
35	chr16:81922200-81922800	Enhancers	Gastric	stomach
36	chr16:81922200-81923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:81922200-81923200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:81922200-81923200	Enhancers	Fetal Lung	lung
39	chr16:81922400-81922600	Active TSS	Liver	Liver
40	chr16:81922400-81924800	Weak transcription	Fetal Intestine Small	intestine
41	chr16:81922400-81930200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:81922400-81944800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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