Variant report

Variant	rs5998136
Chromosome Location	chr22:32224673-32224674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32215168-32228866..22:32342898-32343477	K562	blood:
2	chr22:32218499..32222898-chr22:32223003..32225182,4	K562	blood:
3	chr22:32223442..32224992-chr22:32348903..32351731,2	K562	blood:
4	chr22:32222573..32225055-chr22:32338760..32340683,2	K562	blood:
5	chr22:32224047..32226678-chr22:32241465..32243996,2	K562	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1012068	0.86[CEU][hapmap];0.82[LWK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap]
rs11089527	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12167583	0.85[CEU][hapmap]
rs131233	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs131244	0.90[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs131245	0.89[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs131250	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs131253	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs140078	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];0.82[ASN][1000 genomes]
rs140081	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.83[MKK][hapmap];0.82[ASN][1000 genomes]
rs17761491	0.81[CHD][hapmap]
rs2012150	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2108108	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28528942	0.81[ASN][1000 genomes]
rs3804087	0.94[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap]
rs5994420	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs5994427	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5994431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5994432	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5994441	0.81[CEU][hapmap]
rs5994442	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs5994443	0.81[CEU][hapmap];0.87[LWK][hapmap];0.86[TSI][hapmap]
rs5994446	0.83[MEX][hapmap]
rs5994449	0.82[YRI][hapmap]
rs5998086	0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap]
rs5998119	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998121	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5998122	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5998126	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998131	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998141	0.82[AMR][1000 genomes]
rs62238892	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7287054	0.89[YRI][hapmap]
rs7290856	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs760908	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs8141214	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9619234	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9621327	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5998136	C22orf31	cis	cerebellum	SCAN
rs5998136	YWHAH	cis	cerebellum	SCAN
rs5998136	SEC14L4	cis	cerebellum	SCAN
rs5998136	ZNRF3	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:32189800-32225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:32192400-32242200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:32193000-32250600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr22:32193200-32226800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr22:32193200-32228400	Strong transcription	Adipose Nuclei	Adipose
10	chr22:32193200-32246000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:32193200-32250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:32196600-32224800	Weak transcription	Hela-S3	cervix
13	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
14	chr22:32204800-32225800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:32205000-32228200	Strong transcription	Fetal Muscle Leg	muscle
16	chr22:32205000-32228600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:32205200-32225200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:32205200-32226600	Strong transcription	Fetal Thymus	thymus
19	chr22:32205200-32257600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:32206400-32225600	Strong transcription	Left Ventricle	heart
21	chr22:32207800-32244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:32209000-32245800	Strong transcription	Primary T cells from cord blood	blood
23	chr22:32209000-32254600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr22:32209200-32226600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:32209400-32225600	Weak transcription	Stomach Mucosa	stomach
26	chr22:32210200-32225200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr22:32210200-32226000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr22:32210400-32225200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:32210600-32251000	Strong transcription	Fetal Stomach	stomach
30	chr22:32211000-32226200	Strong transcription	Thymus	Thymus
31	chr22:32211400-32226800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr22:32212000-32225600	Strong transcription	Liver	Liver
33	chr22:32212000-32226800	Strong transcription	Fetal Intestine Small	intestine
34	chr22:32212000-32228200	Strong transcription	Fetal Intestine Large	intestine
35	chr22:32215200-32224800	Weak transcription	A549	lung
36	chr22:32216000-32239200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:32218200-32242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:32218600-32241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:32218800-32225600	Weak transcription	NH-A	brain
40	chr22:32218800-32241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:32218800-32247200	Weak transcription	Psoas Muscle	Psoas
42	chr22:32219000-32227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:32219000-32240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:32219200-32224800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:32219200-32224800	Weak transcription	HUVEC	blood vessel
46	chr22:32219200-32224800	Weak transcription	NHLF	lung
47	chr22:32219200-32225600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:32219200-32225600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:32219200-32225600	Weak transcription	K562	blood
50	chr22:32219200-32225800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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