Variant report

Variant	rs2246434
Chromosome Location	chr1:158618455-158618456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:158616728..158618921-chr1:158620920..158622648,2	K562	blood:
2	chr1:158604594..158606609-chr1:158618169..158620977,2	K562	blood:
3	chr1:158617559..158620365-chr1:158624025..158625683,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1029083	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16840314	0.81[CEU][hapmap]
rs2022002	0.86[EUR][1000 genomes]
rs2022003	0.81[CEU][hapmap]
rs2157691	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs2251963	0.85[EUR][1000 genomes]
rs2251964	0.85[EUR][1000 genomes]
rs2479868	0.85[CEU][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs2482963	0.85[EUR][1000 genomes]
rs2518489	0.85[EUR][1000 genomes]
rs2518490	0.85[EUR][1000 genomes]
rs2518491	0.86[CEU][hapmap];0.81[GIH][hapmap];0.86[EUR][1000 genomes]
rs2518493	0.95[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779116	0.86[EUR][1000 genomes]
rs2852634	0.86[EUR][1000 genomes]
rs2852635	0.86[EUR][1000 genomes]
rs2852637	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs703118	0.83[JPT][hapmap]
rs857684	0.86[CEU][hapmap];0.91[GIH][hapmap];0.88[EUR][1000 genomes]
rs857685	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs857689	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs857691	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs857720	0.86[EUR][1000 genomes]
rs857721	0.86[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[EUR][1000 genomes]
rs857725	0.86[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.87[EUR][1000 genomes]
rs860772	0.86[CEU][hapmap];0.91[GIH][hapmap];0.88[EUR][1000 genomes]
rs861409	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs863327	0.95[CEU][hapmap];0.81[CHB][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs863344	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2246434	SLC27A3	cis	cerebellum	SCAN
rs2246434	IFI16	cis	parietal	SCAN
rs2246434	OR6Y1	cis	cerebellum	SCAN
rs2246434	CHRNB2	cis	cerebellum	SCAN
rs2246434	OR10Z1	cis	cerebellum	SCAN
rs2246434	PYHIN1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158611800-158618600	Weak transcription	Fetal Thymus	thymus
2	chr1:158612200-158628800	Strong transcription	K562	blood
3	chr1:158615000-158623000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:158616600-158624400	Weak transcription	Thymus	Thymus
5	chr1:158616800-158623200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:158616800-158623200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:158616800-158623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:158617400-158622400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:158617600-158623000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:158617800-158619600	Enhancers	Fetal Heart	heart

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