Variant report

Variant	rs5994431
Chromosome Location	chr22:32210300-32210301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31936958-31958600..22:32188129-32210582	K562	blood:
2	22:32188129-32210582..22:32846948-32860159	K562	blood:
3	chr22:32209591..32211709-chr22:32214663..32216477,2	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1012068	0.86[CEU][hapmap];0.82[LWK][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs11089527	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12167583	0.85[CEU][hapmap]
rs131233	0.87[CHB][hapmap]
rs131244	0.90[CEU][hapmap];0.94[CHB][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs131245	0.89[CEU][hapmap];0.93[CHB][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs131250	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs131253	0.95[CEU][hapmap];0.94[CHB][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs140078	0.87[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap]
rs140081	0.87[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap]
rs2012150	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2108108	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3804087	0.94[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap]
rs5994420	0.94[CHB][hapmap]
rs5994427	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs5994430	0.83[ASN][1000 genomes]
rs5994432	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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];0.83[TSI][hapmap]
rs5994449	0.82[YRI][hapmap]
rs5998086	0.94[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap]
rs5998119	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5998121	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998122	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998126	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998131	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998136	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]
rs5998141	0.82[AMR][1000 genomes]
rs62238892	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7287054	0.89[YRI][hapmap]
rs7290856	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs760908	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs8141214	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9619234	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621327	0.86[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5994431	YWHAH	cis	cerebellum	SCAN
rs5994431	SEC14L4	cis	cerebellum	SCAN
rs5994431	ZNRF3	cis	parietal	SCAN
rs5994431	C22orf31	cis	cerebellum	SCAN
rs5994431	C22orf42	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:32172800-32221000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:32175200-32213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:32187800-32222000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:32188000-32220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:32188600-32222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:32188800-32214200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:32189800-32225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:32192400-32242200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:32192800-32220000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:32193000-32250600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:32193200-32226800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr22:32193200-32228400	Strong transcription	Adipose Nuclei	Adipose
20	chr22:32193200-32246000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:32193200-32250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:32193400-32220200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr22:32196600-32210800	Weak transcription	NHLF	lung
24	chr22:32196600-32224800	Weak transcription	Hela-S3	cervix
25	chr22:32197200-32214400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
27	chr22:32197400-32219800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:32199000-32213600	Weak transcription	K562	blood
29	chr22:32199000-32213800	Weak transcription	NHDF-Ad	bronchial
30	chr22:32199600-32210800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:32200000-32213600	Weak transcription	Fetal Kidney	kidney
32	chr22:32200400-32210400	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:32200400-32214000	Weak transcription	Fetal Brain Male	brain
34	chr22:32201000-32214000	Weak transcription	Fetal Heart	heart
35	chr22:32201600-32210400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:32201600-32213800	Weak transcription	A549	lung
37	chr22:32201600-32214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:32201800-32210800	Weak transcription	Small Intestine	intestine
39	chr22:32202400-32213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:32202800-32210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:32202800-32210600	Weak transcription	Brain Angular Gyrus	brain
42	chr22:32202800-32214000	Weak transcription	HMEC	breast
43	chr22:32203000-32210400	Weak transcription	Brain Substantia Nigra	brain
44	chr22:32203000-32210400	Weak transcription	HUVEC	blood vessel
45	chr22:32203000-32210600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:32203000-32212600	Weak transcription	Pancreas	Pancrea
47	chr22:32203000-32212800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:32203200-32216800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:32204200-32211000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr22:32204800-32225800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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