Variant report

Variant	rs1233433
Chromosome Location	chr19:44786342-44786343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44786011..44787580-chr19:44789844..44792083,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1233430	1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233431	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233432	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233434	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233436	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233438	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233443	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233445	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233446	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233449	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233450	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233451	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233452	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233453	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233457	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233458	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233460	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233461	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233462	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233469	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1233471	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233472	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1233473	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1233474	0.87[TSI][hapmap];0.85[AMR][1000 genomes]
rs1234839	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234840	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1235163	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1237178	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1237179	0.80[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs1238786	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1347349	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1369100	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17657025	0.82[CEU][hapmap]
rs2117385	0.80[CEU][hapmap]
rs2164112	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2164113	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2168990	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2196185	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249402	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2446491	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2571076	0.80[CEU][hapmap]
rs2571100	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2571105	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2571106	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2609881	1.00[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609883	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609886	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609887	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2609890	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2609892	1.00[GIH][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609898	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2609905	0.88[EUR][1000 genomes]
rs2609906	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609907	1.00[GIH][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap]
rs2609909	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722707	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2722708	1.00[GIH][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2722711	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2722715	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2722716	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2722717	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59555311	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6509153	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs874187	1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs898175	1.00[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs898176	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs898177	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs898179	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs984116	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1233433	RUVBL2	cis	parietal	SCAN
rs1233433	KLK7	cis	cerebellum	SCAN
rs1233433	AKT1S1	cis	cerebellum	SCAN
rs1233433	NKPD1	cis	cerebellum	SCAN
rs1233433	FLT3LG	cis	cerebellum	SCAN
rs1233433	ZFP112	trans	cerebellum	SCAN
rs1233433	FLT3LG	cis	parietal	SCAN
rs1233433	SYT3	cis	cerebellum	SCAN
rs1233433	ZNF473	cis	cerebellum	SCAN
rs1233433	SNORD33	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44775000-44791200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
3	chr19:44778600-44787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:44778800-44791000	Weak transcription	Fetal Heart	heart
5	chr19:44778800-44791000	Weak transcription	HSMMtube	muscle
6	chr19:44778800-44791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:44779200-44789200	Weak transcription	Brain Angular Gyrus	brain
8	chr19:44779400-44791000	Weak transcription	Dnd41	blood
9	chr19:44781800-44801400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:44782000-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:44782600-44786600	Weak transcription	HMEC	breast
12	chr19:44782800-44791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:44782800-44792000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:44783000-44786600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:44783200-44791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44783200-44804400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44783600-44787000	Weak transcription	NHDF-Ad	bronchial
18	chr19:44784600-44786800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:44785200-44791400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:44785200-44801600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:44785400-44786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:44785400-44787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:44785400-44787200	Weak transcription	Pancreas	Pancrea
24	chr19:44785600-44791200	Weak transcription	Right Ventricle	heart
25	chr19:44786000-44786600	Weak transcription	NHEK	skin
26	chr19:44786000-44791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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