Variant report

Variant	rs2051583
Chromosome Location	chr22:32265759-32265760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:32846948-32860159	GM12878	blood:
2	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
3	22:31936958-31958600..22:32264718-32278135	Hela-S3	cervix:
4	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
5	chr22:32263814..32266452-chr22:32267135..32268805,2	K562	blood:
6	chr22:32146377..32149751-chr22:32262350..32266440,4	K562	blood:
7	chr22:32264805..32267526-chr22:32279717..32282328,2	K562	blood:
8	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
9	22:32150875-32154575..22:32264718-32278135	GM12878	blood:
10	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013703	1.00[MEX][hapmap]
rs1076674	0.84[MEX][hapmap]
rs11089531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11703232	0.85[MEX][hapmap]
rs11703818	0.85[AFR][1000 genomes]
rs11705235	0.84[MEX][hapmap]
rs11705329	0.92[MEX][hapmap]
rs11912760	1.00[CHB][hapmap]
rs12159545	0.92[ASN][1000 genomes]
rs131237	0.84[MEX][hapmap]
rs131243	0.92[MEX][hapmap]
rs131254	0.92[MEX][hapmap]
rs140079	0.84[MEX][hapmap]
rs16989529	0.85[MEX][hapmap]
rs16989540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16989600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989601	0.83[MEX][hapmap]
rs16989609	0.89[LWK][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs16989711	1.00[CHB][hapmap]
rs28542543	0.88[AFR][1000 genomes]
rs3213524	0.89[LWK][hapmap];0.98[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs3788436	0.89[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs3804088	0.84[MEX][hapmap]
rs5994436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs5998098	0.84[MEX][hapmap]
rs5998114	0.92[MEX][hapmap]
rs5998115	0.84[MEX][hapmap]
rs5998134	0.85[MEX][hapmap]
rs5998144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998150	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998155	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998157	0.83[AFR][1000 genomes]
rs5998160	0.83[AFR][1000 genomes]
rs5998161	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5998170	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs62238934	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7289702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7291742	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73884225	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2051583	PATZ1	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:32242800-32266400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:32243600-32266200	Weak transcription	A549	lung
6	chr22:32244400-32266200	Weak transcription	HUVEC	blood vessel
7	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:32244600-32266800	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:32244600-32270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:32244800-32266600	Weak transcription	Osteobl	bone
12	chr22:32247000-32282400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
14	chr22:32247800-32270400	Weak transcription	Psoas Muscle	Psoas
15	chr22:32249200-32289200	Weak transcription	HepG2	liver
16	chr22:32250800-32266200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr22:32252400-32266600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:32253400-32275600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:32253800-32266600	Weak transcription	Fetal Kidney	kidney
20	chr22:32253800-32268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:32254200-32266600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:32254400-32266200	Weak transcription	Fetal Thymus	thymus
24	chr22:32254400-32267400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:32254400-32270800	Weak transcription	Small Intestine	intestine
26	chr22:32255400-32273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:32255800-32282600	Strong transcription	Fetal Muscle Leg	muscle
28	chr22:32256200-32266600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:32256400-32266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:32256400-32268200	Weak transcription	Colonic Mucosa	Colon
31	chr22:32256600-32266600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:32256600-32266800	Weak transcription	Brain Angular Gyrus	brain
33	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
34	chr22:32257000-32266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:32257200-32266400	Weak transcription	Fetal Lung	lung
36	chr22:32257600-32266200	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:32257600-32266600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:32257600-32266600	Weak transcription	Right Ventricle	heart
39	chr22:32257600-32266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:32257600-32269200	Weak transcription	Pancreas	Pancrea
41	chr22:32257800-32265800	Weak transcription	Placenta	Placenta
42	chr22:32257800-32266400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:32257800-32268000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:32257800-32272000	Weak transcription	NHLF	lung
45	chr22:32258000-32266800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr22:32259000-32266800	Weak transcription	Brain Substantia Nigra	brain
47	chr22:32259400-32270600	Weak transcription	HSMM	muscle
48	chr22:32259600-32266200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:32261400-32266800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:32261400-32266800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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