Variant report

Variant	rs4244193
Chromosome Location	chr1:172435451-172435452
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172426679..172428842-chr1:172434307..172436008,2	K562	blood:
2	chr1:172424577..172428179-chr1:172432936..172436008,3	K562	blood:
3	chr1:172435073..172439525-chr1:172499726..172502954,7	MCF-7	breast:
4	chr1:172423159..172425302-chr1:172434967..172437854,2	K562	blood:
5	chr1:172427216..172431593-chr1:172433461..172437861,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1009802	1.00[CHD][hapmap]
rs1129942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844417	1.00[CHD][hapmap]
rs17278379	1.00[CHD][hapmap]
rs17369123	0.84[CEU][hapmap]
rs2001130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001132	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2018244	0.94[AMR][1000 genomes]
rs2213738	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2901655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3948765	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4244194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916187	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4916260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916261	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659116	0.89[EUR][1000 genomes]
rs6660798	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6689291	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs739249	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7515895	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.89[EUR][1000 genomes]
rs7518300	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522692	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538417	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544376	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7551242	1.00[CHD][hapmap]
rs9425328	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425330	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4244193	GPA33	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172426000-172436000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:172430600-172436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:172434600-172435800	Enhancers	K562	blood
4	chr1:172434600-172436400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:172434600-172436800	Enhancers	Pancreas	Pancrea
6	chr1:172434600-172437000	Enhancers	HSMMtube	muscle
7	chr1:172434800-172435800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:172435000-172436000	Weak transcription	Psoas Muscle	Psoas
9	chr1:172435000-172437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:172435200-172437000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:172435200-172437000	Enhancers	NHEK	skin
12	chr1:172435400-172435600	Enhancers	Left Ventricle	heart
13	chr1:172435400-172435800	Enhancers	Right Atrium	heart
14	chr1:172435400-172435800	Enhancers	A549	lung
15	chr1:172435400-172436000	Enhancers	Fetal Heart	heart
16	chr1:172435400-172436400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:172435400-172436800	Enhancers	Fetal Intestine Small	intestine
18	chr1:172435400-172437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:172435400-172437000	Enhancers	HMEC	breast
20	chr1:172435400-172439000	Enhancers	HepG2	liver
21	chr1:172435400-172439200	Enhancers	Placenta Amnion	Placenta Amnion

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