Variant report

Variant	rs5994441
Chromosome Location	chr22:32266546-32266547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:32266256-32267412	IMR90	lung:	n/a	n/a

No data

(count:9 , 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	chr22:32264805..32267526-chr22:32279717..32282328,2	K562	blood:
6	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
7	chr22:32056871..32059420-chr22:32266507..32268469,3	MCF-7	breast:
8	22:32150875-32154575..22:32264718-32278135	GM12878	blood:
9	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:

No data

Variant related genes	Relation type
DEPDC5	TF binding region
ENSG00000242251	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1012068	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[GIH][hapmap];0.81[LWK][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12167583	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5994431	0.81[CEU][hapmap]
rs5994442	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994443	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap]
rs5994449	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs5998136	0.81[CEU][hapmap]
rs5998140	0.90[EUR][1000 genomes]
rs5998141	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998152	0.81[CEU][hapmap]
rs5998168	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5998173	0.89[EUR][1000 genomes]
rs7287054	0.90[EUR][1000 genomes]
rs7290856	0.81[CEU][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5994441	C22orf31	cis	cerebellum	SCAN
rs5994441	ZNRF3	cis	parietal	SCAN
rs5994441	TCN2	cis	cerebellum	SCAN

Chromatin state (count:123 , 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	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:32244600-32266800	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:32244600-32270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:32244800-32266600	Weak transcription	Osteobl	bone
9	chr22:32247000-32282400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
11	chr22:32247800-32270400	Weak transcription	Psoas Muscle	Psoas
12	chr22:32249200-32289200	Weak transcription	HepG2	liver
13	chr22:32252400-32266600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:32253400-32275600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:32253800-32266600	Weak transcription	Fetal Kidney	kidney
16	chr22:32253800-32268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:32254200-32266600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:32254400-32267400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr22:32254400-32270800	Weak transcription	Small Intestine	intestine
21	chr22:32255400-32273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:32255800-32282600	Strong transcription	Fetal Muscle Leg	muscle
23	chr22:32256200-32266600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:32256400-32266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:32256400-32268200	Weak transcription	Colonic Mucosa	Colon
26	chr22:32256600-32266600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:32256600-32266800	Weak transcription	Brain Angular Gyrus	brain
28	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
29	chr22:32257000-32266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:32257600-32266600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:32257600-32266600	Weak transcription	Right Ventricle	heart
32	chr22:32257600-32266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:32257600-32269200	Weak transcription	Pancreas	Pancrea
34	chr22:32257800-32268000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:32257800-32272000	Weak transcription	NHLF	lung
36	chr22:32258000-32266800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:32259000-32266800	Weak transcription	Brain Substantia Nigra	brain
38	chr22:32259400-32270600	Weak transcription	HSMM	muscle
39	chr22:32261400-32266800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:32261400-32266800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:32261400-32273200	Strong transcription	Primary T cells from cord blood	blood
42	chr22:32261400-32276600	Strong transcription	Fetal Intestine Large	intestine
43	chr22:32261400-32278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:32261600-32266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:32261600-32271600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:32261600-32296200	Strong transcription	Liver	Liver
47	chr22:32261800-32273200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:32262200-32266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:32262200-32266600	Weak transcription	Brain Anterior Caudate	brain

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