Variant report

Variant	rs16927859
Chromosome Location	chr12:24858703-24858704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:24858501-24859147	GM12878	blood:	n/a	n/a
2	MXI1	chr12:24858646-24859059	GM12878	blood:	n/a	n/a
3	CREB1	chr12:24858489-24859179	GM12878	blood:	n/a	n/a
4	BCLAF1	chr12:24858515-24859075	GM12878	blood:	n/a	n/a
5	PML	chr12:24858633-24858947	GM12878	blood:	n/a	n/a
6	MEF2C	chr12:24858575-24859094	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr12:24858561-24859084	GM12878	blood:	n/a	n/a
8	TCF3	chr12:24858628-24858973	GM12878	blood:	n/a	n/a
9	MEF2A	chr12:24858463-24859126	GM12878	blood:	n/a	n/a
10	SPI1	chr12:24858659-24859161	HL-60	blood:	n/a	n/a
11	SP1	chr12:24858523-24859003	GM12878	blood:	n/a	n/a
12	CUX1	chr12:24858607-24859075	GM12878	blood:	n/a	n/a
13	EP300	chr12:24858575-24859087	GM12878	blood:	n/a	n/a
14	FOXM1	chr12:24858457-24859124	GM12878	blood:	n/a	n/a
15	POU2F2	chr12:24858538-24859039	GM12878	blood:	n/a	n/a
16	MAZ	chr12:24858648-24859149	GM12878	blood:	n/a	n/a
17	PAX5	chr12:24858511-24859140	GM12878	blood:	n/a	n/a
18	NFATC1	chr12:24858519-24859171	GM12878	blood:	n/a	n/a
19	EP300	chr12:24858396-24859137	GM12878	blood:	n/a	chr12:24858455-24858469
20	NFIC	chr12:24858510-24859186	GM12878	blood:	n/a	n/a
21	SPI1	chr12:24858562-24859126	GM12891	blood:	n/a	n/a
22	IRF4	chr12:24858512-24859090	GM12878	blood:	n/a	n/a
23	RELA	chr12:24858274-24859110	GM19193	blood:	n/a	n/a
24	ETS1	chr12:24858667-24859122	GM12878	blood:	n/a	n/a
25	MTA3	chr12:24858185-24859156	GM12878	blood:	n/a	n/a
26	EP300	chr12:24858644-24859043	GM12878	blood:	n/a	n/a
27	SRF	chr12:24858673-24858983	GM12878	blood:	n/a	n/a
28	BATF	chr12:24858628-24859011	GM12878	blood:	n/a	n/a
29	TCF3	chr12:24858509-24859079	GM12878	blood:	n/a	n/a
30	MTA3	chr12:24858465-24859161	GM12878	blood:	n/a	n/a
31	STAT5A	chr12:24858532-24859122	GM12878	blood:	n/a	n/a
32	FOXM1	chr12:24858478-24859118	GM12878	blood:	n/a	n/a
33	PML	chr12:24858455-24859119	GM12878	blood:	n/a	n/a
34	TCF12	chr12:24858572-24858969	GM12878	blood:	n/a	n/a
35	SP1	chr12:24858592-24859038	GM12878	blood:	n/a	n/a
36	NFATC1	chr12:24858510-24859154	GM12878	blood:	n/a	n/a
37	SPI1	chr12:24858605-24859147	GM12891	blood:	n/a	n/a
38	IRF4	chr12:24858556-24859095	GM12878	blood:	n/a	n/a
39	CEBPB	chr12:24858478-24859170	GM12878	blood:	n/a	n/a
40	POU2F2	chr12:24858619-24858919	GM12891	blood:	n/a	n/a
41	RUNX3	chr12:24858247-24859114	GM12878	blood:	n/a	n/a
42	SPI1	chr12:24858121-24859280	GM12878	blood:	n/a	chr12:24858510-24858523
43	NFIC	chr12:24858214-24859340	GM12878	blood:	n/a	n/a
44	SPI1	chr12:24858641-24859112	GM12878	blood:	n/a	n/a
45	STAT3	chr12:24858535-24859254	GM12878	blood:	n/a	n/a
46	BCL11A	chr12:24858554-24859110	GM12878	blood:	n/a	n/a
47	SPI1	chr12:24858662-24859117	GM12878	blood:	n/a	n/a
48	PAX5	chr12:24858656-24858955	GM12878	blood:	n/a	n/a
49	BCL11A	chr12:24858642-24859043	GM12878	blood:	n/a	n/a
50	MEF2A	chr12:24858497-24859103	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	chr12:24856687..24858774-chr12:25101784..25103304,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL38P	TF binding region
ENSG00000255921	Chromatin interaction
ENSG00000060982	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1466589	0.84[ASN][1000 genomes]
rs1487665	0.84[ASN][1000 genomes]
rs1487666	0.84[ASN][1000 genomes]
rs16927840	0.99[AFR][1000 genomes]
rs16927854	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56757641	0.93[ASN][1000 genomes]
rs60655396	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24857200-24859400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:24857400-24858800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:24858000-24859400	Enhancers	Primary B cells from cord blood	blood
4	chr12:24858200-24858800	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:24858200-24859000	Enhancers	Fetal Lung	lung
6	chr12:24858200-24859200	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:24858200-24859400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:24858200-24859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:24858200-24860000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:24858400-24858800	Enhancers	Adipose Nuclei	Adipose
11	chr12:24858400-24858800	Enhancers	Aorta	Aorta
12	chr12:24858400-24858800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr12:24858400-24859200	Enhancers	K562	blood
14	chr12:24858400-24859400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:24858400-24859400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:24858400-24859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:24858600-24859000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:24858600-24859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:24858600-24859000	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:24858600-24859400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:24858600-24859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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