Variant report

Variant	rs6802567
Chromosome Location	chr3:43537085-43537086
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	chr3:43537054..43539250-chr3:43539442..43541239,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1026888	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10510737	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17075754	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1842805	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1905181	0.85[AFR][1000 genomes]
rs2372435	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57790719	0.85[AFR][1000 genomes]
rs57838122	0.85[AFR][1000 genomes]
rs6441778	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6769241	0.88[AFR][1000 genomes]
rs6772068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6795944	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6800306	0.89[ASW][hapmap];0.96[YRI][hapmap]
rs72865005	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72865013	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72865025	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72865027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72865029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72865102	0.85[AFR][1000 genomes]
rs72866821	0.83[AFR][1000 genomes]
rs7636753	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7651078	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs922642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9758468	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9758483	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6802567	CPB1	trans	parietal	SCAN
rs6802567	SNRK	cis	cerebellum	SCAN
rs6802567	PTH1R	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43473400-43541400	Weak transcription	Aorta	Aorta
2	chr3:43497000-43539400	Weak transcription	HSMM	muscle
3	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:43519600-43539000	Weak transcription	Right Atrium	heart
5	chr3:43519800-43538200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:43522200-43538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:43522200-43538800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:43522400-43539600	Weak transcription	HSMMtube	muscle
9	chr3:43524200-43539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:43526400-43538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:43527000-43539000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:43531200-43539000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:43531200-43542600	Weak transcription	Psoas Muscle	Psoas
16	chr3:43532400-43540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:43532600-43538200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:43532600-43539000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:43532600-43540800	Weak transcription	Spleen	Spleen
20	chr3:43532800-43539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:43533000-43538000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:43533200-43538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:43533200-43544800	Weak transcription	K562	blood
25	chr3:43533600-43539000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:43533800-43538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:43533800-43539800	Weak transcription	Primary T cells from cord blood	blood

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