Variant report

Variant	rs5994444
Chromosome Location	chr22:32280610-32280611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:32278135-32284948	Hela-S3	cervix:
2	chr22:32264805..32267526-chr22:32279717..32282328,2	K562	blood:

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

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];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703818	0.98[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];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542543	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213524	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]
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];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998139	0.82[AMR][1000 genomes]
rs5998151	0.96[AFR][1000 genomes];0.95[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];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998157	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998170	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5998171	0.86[AMR][1000 genomes]
rs5998172	0.92[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5994444	TTC28AS	cis	cerebellum	SCAN
rs5994444	SFI1	cis	cerebellum	SCAN

Chromatin state (count:123 , 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	chr22:32261600-32296200	Strong transcription	Liver	Liver
12	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32264200-32282400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr22:32264200-32287400	Strong transcription	Fetal Stomach	stomach
15	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:32264400-32287200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:32265000-32287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:32265000-32287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
21	chr22:32267200-32287200	Weak transcription	Fetal Kidney	kidney
22	chr22:32267600-32287200	Weak transcription	NH-A	brain
23	chr22:32267800-32287400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:32268000-32287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:32268000-32308000	Weak transcription	A549	lung
26	chr22:32268400-32282600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr22:32271200-32287400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:32271200-32291600	Weak transcription	Small Intestine	intestine
29	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
31	chr22:32271600-32297400	Weak transcription	HSMM	muscle
32	chr22:32272400-32285000	Weak transcription	Osteobl	bone
33	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
34	chr22:32272600-32298200	Weak transcription	NHLF	lung
35	chr22:32272800-32287200	Weak transcription	NHDF-Ad	bronchial
36	chr22:32273000-32287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:32273000-32304000	Weak transcription	HMEC	breast
38	chr22:32273200-32283400	Weak transcription	Fetal Thymus	thymus
39	chr22:32274000-32295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr22:32274200-32281600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:32274200-32282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr22:32274800-32282600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:32275000-32296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:32275200-32282600	Strong transcription	Adipose Nuclei	Adipose
47	chr22:32275200-32282800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr22:32275200-32296000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:32275400-32281600	Strong transcription	Placenta	Placenta
50	chr22:32275600-32293200	Weak transcription	Psoas Muscle	Psoas

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