Variant report

Variant	rs2814778
Chromosome Location	chr1:159174683-159174684
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	ZBTB7A	chr1:159174447-159174824	K562	blood:	n/a	n/a
2	JUND	chr1:159174655-159174838	K562	blood:	n/a	n/a
3	GATA1	chr1:159173489-159175322	PBDE	blood:	n/a	chr1:159174313-159174323 chr1:159174315-159174332 chr1:159174671-159174692 chr1:159174314-159174323 chr1:159174679-159174696 chr1:159174678-159174685 chr1:159174314-159174321 chr1:159174678-159174685 chr1:159174312-159174325 chr1:159174678-159174685
4	BHLHE40	chr1:159173666-159174771	K562	blood:	n/a	n/a
5	MYC	chr1:159173959-159174836	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167
6	EGR1	chr1:159174523-159174719	K562	blood:	n/a	n/a
7	NR2F2	chr1:159174444-159174888	K562	blood:	n/a	n/a
8	HCFC1	chr1:159174629-159174693	K562	blood:	n/a	n/a
9	TEAD4	chr1:159174464-159174909	K562	blood:	n/a	n/a
10	POLR2A	chr1:159173266-159177005	PBDE	blood:	n/a	n/a
11	POLR2A	chr1:159174580-159174819	H1-hESC	embryonic stem cell:	n/a	n/a
12	UBTF	chr1:159174103-159174861	K562	blood:	n/a	n/a
13	REST	chr1:159174594-159174821	K562	blood:	n/a	n/a
14	TAL1	chr1:159173931-159174905	K562	blood:	n/a	chr1:159174677-159174685 chr1:159174678-159174696 chr1:159174314-159174332
15	POLR2A	chr1:159174590-159174838	K562	blood:	n/a	n/a
16	POLR2A	chr1:159174568-159174755	K562	blood:	n/a	n/a
17	GABPA	chr1:159174540-159174797	K562	blood:	n/a	n/a
18	GATA2	chr1:159174505-159174793	K562	blood:	n/a	chr1:159174671-159174692 chr1:159174679-159174696 chr1:159174678-159174685 chr1:159174678-159174685 chr1:159174678-159174685
19	TBL1XR1	chr1:159174047-159174853	K562	blood:	n/a	n/a
20	MAZ	chr1:159173473-159175086	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
21	CHD2	chr1:159174623-159174809	K562	blood:	n/a	n/a
22	TEAD4	chr1:159174538-159174859	K562	blood:	n/a	n/a
23	EP300	chr1:159173530-159174850	K562	blood:	n/a	chr1:159173953-159173963 chr1:159173591-159173605
24	MAX	chr1:159173529-159174843	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
25	RCOR1	chr1:159173996-159174844	K562	blood:	n/a	n/a
26	YY1	chr1:159174556-159174774	K562	blood:	n/a	n/a
27	ZMIZ1	chr1:159174533-159174777	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225670	TF binding region
DARC	TF binding region

rs_ID	r²[population]
rs2746046	1.00[EUR][1000 genomes]
rs2814776	1.00[EUR][1000 genomes]
rs3027012	1.00[LWK][hapmap]
rs6676002	1.00[LWK][hapmap]
rs856046	0.82[ASW][hapmap]
rs863002	1.00[LWK][hapmap]

Disease	PMID	Source
White blood cell count	22037903	GWAS catalog
Neutrophil count	21507922	GWAS catalog

SNP	Gene	Cis/trans	Tissue	Source
rs2814778	DARC	cis	Whole Blood	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159158800-159177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:159158800-159177800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:159158800-159188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159168000-159177600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:159168400-159177600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:159170400-159177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:159170800-159177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:159171400-159174800	Weak transcription	Esophagus	oesophagus
9	chr1:159171800-159174800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:159171800-159176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:159172200-159175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:159172600-159177200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:159173000-159176400	Enhancers	GM12878-XiMat	blood
14	chr1:159173400-159174800	Flanking Active TSS	K562	blood
15	chr1:159173400-159176200	Enhancers	Placenta	Placenta
16	chr1:159173600-159175800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:159173800-159175000	Enhancers	Fetal Brain Male	brain
18	chr1:159174000-159175200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:159174400-159175800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:159174600-159175000	Enhancers	Fetal Brain Female	brain
21	chr1:159174600-159175600	Active TSS	Lung	lung
22	chr1:159174600-159176000	Active TSS	Spleen	Spleen

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