Variant report

Variant	rs4357160
Chromosome Location	chr6:149460966-149460967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:
2	chr6:149460179..149461877-chr6:149466077..149468125,2	K562	blood:
3	chr6:149452280..149455428-chr6:149458542..149462690,3	MCF-7	breast:
4	chr6:149352637..149354197-chr6:149460011..149462868,2	MCF-7	breast:
5	chr6:149460552..149463387-chr6:149463525..149465749,3	K562	blood:

Variant related genes	Relation type
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12191264	0.86[JPT][hapmap]
rs12191441	0.84[JPT][hapmap]
rs4308587	0.94[EUR][1000 genomes]
rs4535574	0.92[EUR][1000 genomes]
rs4895778	0.88[EUR][1000 genomes]
rs55635503	0.94[EUR][1000 genomes]
rs55843534	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56052955	0.94[EUR][1000 genomes]
rs56071715	0.94[EUR][1000 genomes]
rs56098879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56227122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56367965	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57116615	0.94[EUR][1000 genomes]
rs58260766	0.94[EUR][1000 genomes]
rs58500730	0.94[EUR][1000 genomes]
rs60008694	0.81[EUR][1000 genomes]
rs60107332	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60424096	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61338555	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61555942	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62425887	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62425895	0.94[EUR][1000 genomes]
rs62425899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62425913	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62425916	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62425928	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62425929	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62428289	0.94[EUR][1000 genomes]
rs6909824	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034080	chr6:149456387-149480990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4357160	SASH1	cis	cerebellum	SCAN
rs4357160	RGS17	cis	parietal	SCAN
rs4357160	AKAP12	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149450000-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149450200-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149456800-149461200	Weak transcription	Fetal Lung	lung
4	chr6:149458000-149461200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:149458000-149461400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:149458600-149461000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:149459000-149461000	Enhancers	K562	blood
8	chr6:149459000-149461400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:149459000-149461400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:149459000-149462000	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:149459200-149461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:149459200-149461000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:149459200-149461200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:149459200-149461400	Enhancers	Dnd41	blood
15	chr6:149459400-149461000	Enhancers	GM12878-XiMat	blood
16	chr6:149459400-149461200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:149459400-149461200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:149459400-149461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:149459400-149461600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:149460000-149461600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:149460400-149461400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:149460800-149462400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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