Variant report

Variant	rs3213524
Chromosome Location	chr22:32275789-32275790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:32846948-32860159	GM12878	blood:
2	22:31936958-31958600..22:32264718-32278135	Hela-S3	cervix:
3	chr10:65280558..65281320-chr22:32275168..32276148,2	NB4	blood:
4	chr22:32271099..32272918-chr22:32275231..32277361,2	K562	blood:
5	chr22:32275774..32277395-chr22:32340579..32342631,2	MCF-7	breast:
6	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
7	22:32150875-32154575..22:32264718-32278135	GM12878	blood:

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000165476	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000227813	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034419	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703587	0.81[LWK][hapmap];0.88[YRI][hapmap]
rs11703818	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989609	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051583	0.89[LWK][hapmap];0.98[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs28542543	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788436	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820997	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs5753817	0.81[YRI][hapmap]
rs5994444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998139	0.84[AMR][1000 genomes]
rs5998151	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998157	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998160	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998161	0.89[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs5998170	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5998171	0.84[AMR][1000 genomes]
rs5998172	0.92[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60480657	0.81[AFR][1000 genomes]
rs73884225	0.81[AFR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3213524	SFI1	cis	cerebellum	SCAN
rs3213524	TTC28AS	cis	cerebellum	SCAN

Chromatin state (count:124 , 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	chr22:32247000-32282400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
7	chr22:32249200-32289200	Weak transcription	HepG2	liver
8	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:32255800-32282600	Strong transcription	Fetal Muscle Leg	muscle
10	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
11	chr22:32261400-32276600	Strong transcription	Fetal Intestine Large	intestine
12	chr22:32261400-32278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32261600-32296200	Strong transcription	Liver	Liver
14	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:32264200-32282400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr22:32264200-32287400	Strong transcription	Fetal Stomach	stomach
17	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:32264400-32276600	Strong transcription	Fetal Intestine Small	intestine
19	chr22:32264400-32287200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr22:32265000-32287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:32265000-32287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:32265800-32276200	Strong transcription	Left Ventricle	heart
24	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
25	chr22:32267200-32287200	Weak transcription	Fetal Kidney	kidney
26	chr22:32267600-32287200	Weak transcription	NH-A	brain
27	chr22:32267800-32287400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:32268000-32287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:32268000-32308000	Weak transcription	A549	lung
30	chr22:32268400-32276000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:32268400-32282600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr22:32271000-32277200	Weak transcription	Stomach Mucosa	stomach
33	chr22:32271200-32278000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:32271200-32287400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:32271200-32291600	Weak transcription	Small Intestine	intestine
36	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
38	chr22:32271600-32297400	Weak transcription	HSMM	muscle
39	chr22:32272400-32279800	Weak transcription	Gastric	stomach
40	chr22:32272400-32285000	Weak transcription	Osteobl	bone
41	chr22:32272600-32277200	Weak transcription	K562	blood
42	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
43	chr22:32272600-32298200	Weak transcription	NHLF	lung
44	chr22:32272800-32287200	Weak transcription	NHDF-Ad	bronchial
45	chr22:32273000-32287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:32273000-32304000	Weak transcription	HMEC	breast
47	chr22:32273200-32275800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:32273200-32277000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:32273200-32277200	Weak transcription	NHEK	skin
50	chr22:32273200-32278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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