Variant report

Variant	rs11211481
Chromosome Location	chr1:47694167-47694168
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	ZNF263	chr1:47693457-47694247	HEK293-T-REx	kidney:	n/a	chr1:47694043-47694064
2	POLR2A	chr1:47692996-47695912	K562	blood:	n/a	n/a
3	TEAD4	chr1:47693201-47695703	K562	blood:	n/a	n/a
4	JUN	chr1:47694131-47700215	K562	blood:	n/a	chr1:47697692-47697701
5	POLR2A	chr1:47693720-47694310	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:47693272-47698475	K562	blood:	n/a	n/a
7	POLR2A	chr1:47693945-47698523	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:47694104-47698334	K562	blood:	n/a	n/a
9	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
10	POLR2A	chr1:47694083-47695692	K562	blood:	n/a	n/a
11	POLR2A	chr1:47694167-47695527	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:47691819-47699200	PBDE	blood:	n/a	n/a
13	EP300	chr1:47694124-47694360	K562	blood:	n/a	n/a
14	SUZ12	chr1:47693124-47699204	NT2-D1	testis:	n/a	n/a
15	NR2F2	chr1:47694063-47695528	K562	blood:	n/a	n/a
16	POLR2A	chr1:47691509-47698177	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47694063..47695820-chr1:47778325..47781365,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAL1-1	chr1:47694019-47694194	NONHSAT003067
2	lnc-TAL1-1	chr1:47694020-47694194	NONHSAT003068
3	lnc-CYP4A22-4	chr1:47692835-47696422	ENSG00000226252.1

Variant related genes	Relation type
TAL1	TF binding region
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1015890	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890471	0.80[EUR][1000 genomes]
rs10890472	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11211479	0.80[EUR][1000 genomes]
rs11211480	0.92[CEU][hapmap];1.00[CHD][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs11211482	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12057184	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12083555	0.93[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12141363	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144626	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12407157	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1810658	0.81[AMR][1000 genomes]
rs2008713	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984618	1.00[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087210	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134058	0.80[EUR][1000 genomes]
rs4926521	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61782665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588196	1.00[CHD][hapmap]
rs6658125	0.80[EUR][1000 genomes]
rs6669341	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6692253	0.80[EUR][1000 genomes]
rs6695898	0.81[EUR][1000 genomes]
rs6700838	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701381	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs741959	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743270	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7525145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534271	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765861	1.00[ASN][1000 genomes]
rs7664	1.00[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs911910	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977747	1.00[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11211481	BEST4	cis	cerebellum	SCAN
rs11211481	RP1-18D14.7	cis	Whole Blood	GTEx
rs11211481	PDZK1IP1	cis	multi-tissue	Pritchard
rs11211481	CYP4A11	cis	parietal	SCAN
rs11211481	MPL	cis	cerebellum	SCAN
rs11211481	CMPK1	cis	lymphoblastoid	seeQTL
rs11211481	STIL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:47691000-47694400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47691600-47694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr1:47691600-47694800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:47691800-47695200	Weak transcription	Pancreas	Pancrea
8	chr1:47691800-47695600	Flanking Active TSS	HUVEC	blood vessel
9	chr1:47692200-47694200	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr1:47692200-47694400	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:47692400-47696600	Weak transcription	Gastric	stomach
12	chr1:47692600-47694200	Weak transcription	Lung	lung
13	chr1:47693400-47694200	Weak transcription	Right Atrium	heart
14	chr1:47693600-47694400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:47693600-47694800	Weak transcription	Spleen	Spleen
16	chr1:47693600-47697600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr1:47693800-47694200	Flanking Active TSS	K562	blood
18	chr1:47694000-47694600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr1:47694000-47695000	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr1:47694000-47695600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:47694000-47696400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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