Variant report

Variant	rs9395069
Chromosome Location	chr6:45128521-45128522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45128101..45130973-chr6:45345066..45347922,2	K562	blood:
2	chr6:45093713..45096382-chr6:45127644..45129447,2	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12204678	0.89[EUR][1000 genomes]
rs12207402	1.00[YRI][hapmap]
rs1324531	0.89[EUR][1000 genomes]
rs1555681	0.87[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17209755	1.00[YRI][hapmap]
rs2038766	0.85[EUR][1000 genomes]
rs2093901	0.83[EUR][1000 genomes]
rs2093903	0.83[EUR][1000 genomes]
rs2396373	0.87[JPT][hapmap]
rs2396380	0.86[EUR][1000 genomes]
rs2396425	0.82[EUR][1000 genomes]
rs4506035	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4631280	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6458419	0.85[EUR][1000 genomes]
rs6458420	0.90[EUR][1000 genomes]
rs6458428	0.83[EUR][1000 genomes]
rs6899845	0.84[EUR][1000 genomes]
rs7743116	0.89[EUR][1000 genomes]
rs7770401	0.82[AMR][1000 genomes]
rs9349315	0.82[EUR][1000 genomes]
rs9357469	0.84[EUR][1000 genomes]
rs9357470	0.87[EUR][1000 genomes]
rs9357471	0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9357478	0.83[EUR][1000 genomes]
rs9369533	0.84[EUR][1000 genomes]
rs9381359	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9381366	0.89[EUR][1000 genomes]
rs9381377	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9395066	0.87[EUR][1000 genomes]
rs9395079	0.85[EUR][1000 genomes]
rs9395084	0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9395087	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9463078	0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9472418	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9472460	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9395069	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL
rs9395069	SUPT3H	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45123600-45130000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:45125000-45128600	Weak transcription	K562	blood
3	chr6:45125000-45130600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:45128400-45129000	Enhancers	Dnd41	blood

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