Variant report

Variant	rs73276399
Chromosome Location	chr12:42327572-42327573
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:42327572-42327866	HepG2	liver:	n/a	n/a
2	MAX	chr12:42327488-42327809	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:42327295-42327823	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr12:42327218-42327786	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr12:42327388-42327732	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr12:42327335-42327782	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr12:42327556-42327737	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:42327282-42327866	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:42327456-42327786	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr12:42327410-42327869	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr12:42327441-42327975	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr12:42327337-42327793	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr12:42327372-42327858	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr12:42327340-42327830	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr12:42327402-42327602	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr12:42327542-42328040	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr12:42327352-42327938	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:42327516-42327772	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr12:42327515-42327834	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000257239	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs1157577	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11836064	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17090752	1.00[EUR][1000 genomes]
rs1920698	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58627781	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs73270611	1.00[EUR][1000 genomes]
rs73274214	1.00[EUR][1000 genomes]
rs73274218	1.00[EUR][1000 genomes]
rs73274236	1.00[EUR][1000 genomes]
rs73274275	1.00[EUR][1000 genomes]
rs73274301	1.00[EUR][1000 genomes]
rs73276306	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276381	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276390	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278206	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278227	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42326000-42327800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:42326200-42327600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:42326800-42327800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:42326800-42328000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:42326800-42328000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:42326800-42330000	Weak transcription	Aorta	Aorta
7	chr12:42326800-42333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:42327000-42327600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:42327000-42327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:42327000-42327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:42327000-42327600	Enhancers	Fetal Brain Male	brain
12	chr12:42327000-42327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:42327000-42327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:42327000-42327800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:42327000-42327800	Enhancers	Brain Germinal Matrix	brain
16	chr12:42327000-42327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:42327000-42328000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr12:42327000-42328000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr12:42327000-42328400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr12:42327000-42329000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:42327200-42327800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:42327400-42327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:42327400-42327800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:42327400-42327800	Enhancers	HUES6 Cell Line	embryonic stem cell

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