Variant report

Variant	rs6700838
Chromosome Location	chr1:47700027-47700028
allele	C/T
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	JUN	chr1:47694131-47700215	K562	blood:	n/a	chr1:47697692-47697701

No.	Distal block	Cell Line	Cell type
1	chr1:47698065..47701029-chr1:47721450..47723086,2	K562	blood:
2	chr1:47698832..47701607-chr1:47778035..47780764,2	K562	blood:
3	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:

Variant related genes	Relation type
TAL1	TF binding region
ENSG00000162368	Chromatin interaction
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1015890	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789504	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890472	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211480	0.92[CEU][hapmap];1.00[CHD][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs11211481	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]
rs11211482	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12057184	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12083555	0.93[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144626	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12407157	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1810658	0.83[AMR][1000 genomes]
rs2008713	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087210	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588196	1.00[CHD][hapmap]
rs6669341	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6695898	0.81[EUR][1000 genomes]
rs6701381	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs741959	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534271	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs911910	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977747	1.00[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6700838	MPL	cis	cerebellum	SCAN
rs6700838	STIL	cis	cerebellum	SCAN
rs6700838	CMPK1	cis	lymphoblastoid	seeQTL
rs6700838	SKP2	trans	parietal	SCAN
rs6700838	CYP4A11	cis	parietal	SCAN
rs6700838	RP1-18D14.7	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47698200-47704400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:47698600-47700800	Enhancers	HUVEC	blood vessel
3	chr1:47698600-47703800	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:47698800-47700800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:47698800-47700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:47699000-47700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:47699200-47702400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr1:47699400-47703200	Enhancers	K562	blood
9	chr1:47699800-47702200	Enhancers	Lung	lung

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