Variant report

Variant	rs5994446
Chromosome Location	chr22:32289919-32289920
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	CEBPB	chr22:32289857-32290165	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32289396..32291520-chr22:32339040..32342085,3	MCF-7	breast:
2	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
3	chr22:32288125..32290719-chr22:32305985..32308107,2	K562	blood:

Variant related genes	Relation type
ENSG00000227813	TF binding region
DEPDC5	TF binding region
ENSG00000128245	Chromatin interaction
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034419	0.85[ASW][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11703232	0.81[MEX][hapmap]
rs11703818	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16989529	0.81[MEX][hapmap]
rs16989609	0.85[ASW][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28542543	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3213524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3788436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5994436	0.81[MEX][hapmap]
rs5994444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998134	0.81[MEX][hapmap]
rs5998136	0.83[MEX][hapmap]
rs5998139	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5998151	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998157	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998160	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998161	0.81[MEX][hapmap]
rs5998170	0.80[AMR][1000 genomes]
rs5998172	1.00[ASW][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap]
rs60480657	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5994446	YWHAH	cis	cerebellum	SCAN
rs5994446	ASPHD2	cis	parietal	SCAN
rs5994446	TTC28AS	cis	cerebellum	SCAN
rs5994446	SEC14L4	cis	cerebellum	SCAN
rs5994446	SEZ6L	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
6	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
8	chr22:32261600-32296200	Strong transcription	Liver	Liver
9	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
12	chr22:32268000-32308000	Weak transcription	A549	lung
13	chr22:32271200-32291600	Weak transcription	Small Intestine	intestine
14	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
16	chr22:32271600-32297400	Weak transcription	HSMM	muscle
17	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
18	chr22:32272600-32298200	Weak transcription	NHLF	lung
19	chr22:32273000-32304000	Weak transcription	HMEC	breast
20	chr22:32274000-32295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr22:32275000-32296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:32275200-32296000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:32275600-32293200	Weak transcription	Psoas Muscle	Psoas
26	chr22:32275600-32295800	Strong transcription	Primary T cells from cord blood	blood
27	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:32276200-32291200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:32276600-32293200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:32277600-32302400	Weak transcription	NHEK	skin
31	chr22:32279400-32297000	Weak transcription	Stomach Mucosa	stomach
32	chr22:32280400-32291200	Weak transcription	Left Ventricle	heart
33	chr22:32280400-32293400	Weak transcription	Right Ventricle	heart
34	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
35	chr22:32281200-32291400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:32281200-32300800	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:32281400-32290000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:32281400-32291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:32281400-32291600	Weak transcription	Brain Germinal Matrix	brain
40	chr22:32281400-32293000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:32281400-32301600	Weak transcription	Pancreas	Pancrea
42	chr22:32281600-32291400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:32282600-32293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:32283400-32296000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:32283600-32296000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:32284000-32294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:32284000-32302200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr22:32285600-32293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:32286200-32291200	Weak transcription	Spleen	Spleen
50	chr22:32286200-32294200	Weak transcription	Fetal Brain Female	brain

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