Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:47697874-47698973	K562	blood:	n/a	n/a
2	TBL1XR1	chr1:47696042-47699626	K562	blood:	n/a	n/a
3	NR2F2	chr1:47696055-47699387	K562	blood:	n/a	n/a
4	JUN	chr1:47694131-47700215	K562	blood:	n/a	chr1:47697692-47697701
5	GATA1	chr1:47697405-47698882	PBDE	blood:	n/a	chr1:47698033-47698046 chr1:47698035-47698045 chr1:47698037-47698044 chr1:47698026-47698043 chr1:47698035-47698044 chr1:47698037-47698047
6	TEAD4	chr1:47696902-47698782	K562	blood:	n/a	n/a
7	GATA1	chr1:47691744-47699667	K562	blood:	n/a	chr1:47698033-47698046 chr1:47698035-47698045 chr1:47698037-47698044 chr1:47698026-47698043 chr1:47698035-47698044 chr1:47698037-47698047
8	CHD1	chr1:47698641-47698711	H1-hESC	embryonic stem cell:	n/a	n/a
9	ARID3A	chr1:47696776-47699228	K562	blood:	n/a	n/a
10	POLR2A	chr1:47691819-47699200	PBDE	blood:	n/a	n/a
11	BHLHE40	chr1:47696725-47699020	K562	blood:	n/a	chr1:47697648-47697664 chr1:47697651-47697667 chr1:47697640-47697656 chr1:47697654-47697670
12	SUZ12	chr1:47693124-47699204	NT2-D1	testis:	n/a	n/a
13	CEBPD	chr1:47696839-47698745	K562	blood:	n/a	chr1:47697595-47697604

No.	Distal block	Cell Line	Cell type
1	chr1:47695487..47699315-chr1:47745491..47748993,3	K562	blood:
2	chr1:47698065..47701029-chr1:47721450..47723086,2	K562	blood:
3	chr1:47069954..47072526-chr1:47696601..47699407,3	K562	blood:
4	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
5	chr1:47695872..47699054-chr1:47778639..47781604,5	K562	blood:
6	chr1:47696333..47699229-chr1:47798340..47801363,4	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11211508	0.80[MEX][hapmap]
rs17418545	0.81[AMR][1000 genomes]
rs2181222	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2181223	0.85[CHB][hapmap]
rs2249636	0.84[JPT][hapmap]
rs2249665	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250380	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250495	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2273834	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2742101	0.84[AMR][1000 genomes]
rs2758742	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2798355	0.81[ASN][1000 genomes]
rs2821086	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2821097	0.84[AMR][1000 genomes]
rs3088062	0.95[MEX][hapmap]
rs3125635	0.82[MEX][hapmap]
rs3125644	0.82[MEX][hapmap]
rs4600090	0.95[MEX][hapmap]
rs6690084	0.95[MEX][hapmap]
rs6697248	0.82[MEX][hapmap]
rs741958	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7532148	0.90[MEX][hapmap]
rs765862	0.89[ASN][1000 genomes]
rs9436225	0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2798349	PDZK1IP1	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47696200-47698800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:47698000-47698800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:47698000-47698800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:47698000-47699000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:47698200-47699400	Flanking Active TSS	K562	blood
6	chr1:47698200-47704400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:47698400-47698800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr1:47698400-47698800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr1:47698400-47699000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:47698400-47699000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr1:47698400-47699000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr1:47698400-47699200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:47698600-47700800	Enhancers	HUVEC	blood vessel
14	chr1:47698600-47703800	Enhancers	Primary hematopoietic stem cells	blood

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