Variant report

Variant	rs12747749
Chromosome Location	chr1:151429618-151429619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151429497-151429825	GM12892	blood:	n/a	n/a
2	IRF1	chr1:151429464-151429813	K562	blood:	n/a	n/a
3	POLR2A	chr1:151429504-151429891	GM12878	blood:	n/a	n/a
4	SPI1	chr1:151429506-151430022	HL-60	blood:	n/a	n/a
5	ATF1	chr1:151429548-151429740	K562	blood:	n/a	n/a
6	CTCF	chr1:151429480-151429630	HL-60	blood:	n/a	n/a
7	POLR2A	chr1:151429408-151430076	HL-60	blood:	n/a	n/a
8	POLR2A	chr1:151429501-151430160	PANC-1	pancreas:	n/a	n/a
9	CTCF	chr1:151429500-151429650	GM12864	blood:	n/a	n/a
10	WRNIP1	chr1:151429582-151430036	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
4	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
5	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
6	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
7	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
8	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
9	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
10	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
11	chr1:151428333..151430220-chr1:151430244..151432504,3	K562	blood:
12	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
13	chr1:151429154..151431370-chr1:151947208..151949850,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-2	chr1:151429179-151430776	NONHSAT006396

No data

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12730283	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743850	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12760638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025899	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4291502	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515781	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515782	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436029	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12747749	SELENBP1	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
2	chr1:151410200-151429800	Weak transcription	Lung	lung
3	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
5	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:151422000-151430000	Weak transcription	Ovary	ovary
10	chr1:151425800-151429800	Weak transcription	Fetal Stomach	stomach
11	chr1:151427200-151429800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:151427200-151429800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:151427600-151429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:151427600-151429800	Weak transcription	Gastric	stomach
15	chr1:151427800-151430000	Enhancers	HepG2	liver
16	chr1:151428000-151430000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:151428200-151429800	Enhancers	Primary B cells from cord blood	blood
18	chr1:151428400-151429800	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:151428400-151429800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:151428400-151430200	Enhancers	Fetal Lung	lung
21	chr1:151428600-151429800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:151428600-151430000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:151428800-151429800	Enhancers	Adipose Nuclei	Adipose
24	chr1:151429000-151429800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:151429000-151429800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:151429000-151429800	Enhancers	Brain Hippocampus Middle	brain
27	chr1:151429000-151429800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:151429000-151429800	Enhancers	Small Intestine	intestine
29	chr1:151429000-151430000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:151429000-151430000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:151429000-151430000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:151429000-151430000	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:151429200-151430000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:151429200-151430000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151429200-151430000	Enhancers	Fetal Intestine Large	intestine
36	chr1:151429200-151430000	Enhancers	Fetal Muscle Leg	muscle
37	chr1:151429200-151430400	Enhancers	Stomach Mucosa	stomach
38	chr1:151429200-151430400	Enhancers	Spleen	Spleen
39	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
40	chr1:151429400-151429800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:151429400-151429800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:151429400-151429800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:151429400-151429800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:151429400-151429800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:151429400-151429800	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:151429400-151429800	Weak transcription	Psoas Muscle	Psoas
47	chr1:151429400-151429800	Flanking Active TSS	Right Atrium	heart
48	chr1:151429400-151429800	Enhancers	Right Ventricle	heart
49	chr1:151429400-151429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:151429400-151429800	Transcr. at gene 5' and 3'	Dnd41	blood

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