Variant report

Variant	rs16991613
Chromosome Location	chr22:33357831-33357832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58068804	1.00[EUR][1000 genomes]
rs58893951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58952697	1.00[EUR][1000 genomes]
rs59860687	1.00[EUR][1000 genomes]
rs5994644	1.00[EUR][1000 genomes]
rs5998666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998667	1.00[EUR][1000 genomes]
rs5998669	0.91[YRI][hapmap];0.97[AFR][1000 genomes]
rs5998673	0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5998674	0.88[AFR][1000 genomes]
rs5998675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61499920	1.00[EUR][1000 genomes]
rs7284962	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287335	1.00[EUR][1000 genomes]
rs73408532	1.00[EUR][1000 genomes]
rs73408546	1.00[EUR][1000 genomes]
rs73408556	1.00[EUR][1000 genomes]
rs734315	1.00[EUR][1000 genomes]
rs73881911	1.00[EUR][1000 genomes]
rs73881913	1.00[EUR][1000 genomes]
rs73881916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8135048	1.00[EUR][1000 genomes]
rs8135137	1.00[EUR][1000 genomes]
rs8139676	1.00[EUR][1000 genomes]
rs8139856	1.00[EUR][1000 genomes]
rs8140808	1.00[EUR][1000 genomes]
rs8140988	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8141527	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8142539	1.00[EUR][1000 genomes]

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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:33347600-33360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:33351600-33360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33354000-33361000	Weak transcription	Fetal Intestine Large	intestine
8	chr22:33354000-33363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
10	chr22:33354200-33360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:33354200-33361000	Weak transcription	Esophagus	oesophagus
12	chr22:33354200-33361000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:33354400-33359800	Weak transcription	Spleen	Spleen
14	chr22:33354400-33360800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:33354400-33360800	Weak transcription	Left Ventricle	heart
16	chr22:33354400-33362200	Weak transcription	Fetal Kidney	kidney
17	chr22:33354400-33363000	Weak transcription	Lung	lung
18	chr22:33354400-33363800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
20	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
21	chr22:33354800-33359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:33354800-33363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:33355000-33362400	Weak transcription	Placenta	Placenta
24	chr22:33355000-33363600	Weak transcription	Right Atrium	heart
25	chr22:33355200-33361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:33356600-33358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:33357200-33358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:33357400-33358000	Enhancers	Fetal Heart	heart
29	chr22:33357400-33358000	Enhancers	Fetal Lung	lung
30	chr22:33357800-33358000	Enhancers	Fetal Stomach	stomach
31	chr22:33357800-33362000	Weak transcription	HepG2	liver

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