Variant report

Variant	rs1988647
Chromosome Location	chr22:33355383-33355384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10222206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10222241	0.81[AFR][1000 genomes]
rs10222305	0.80[AFR][1000 genomes]
rs11089596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1119511	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1119512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11914041	1.00[EUR][1000 genomes]
rs12166853	0.81[AFR][1000 genomes]
rs12373961	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1365835	0.83[AFR][1000 genomes]
rs16991605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56076355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56095662	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs695224	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7364251	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7364286	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8140502	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9619319	0.95[AFR][1000 genomes]
rs9619320	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9619322	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621599	0.81[AFR][1000 genomes]
rs9621606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621610	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621613	0.82[AFR][1000 genomes]
rs9621614	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621615	0.95[AFR][1000 genomes];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:33 , 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	chr22:33347800-33357400	Weak transcription	Brain Anterior Caudate	brain
6	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:33351600-33360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33352800-33355400	Enhancers	Fetal Stomach	stomach
9	chr22:33353800-33357000	Weak transcription	HepG2	liver
10	chr22:33354000-33361000	Weak transcription	Fetal Intestine Large	intestine
11	chr22:33354000-33363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:33354200-33357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:33354200-33360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:33354200-33361000	Weak transcription	Esophagus	oesophagus
16	chr22:33354200-33361000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:33354400-33356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:33354400-33357200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:33354400-33359800	Weak transcription	Spleen	Spleen
20	chr22:33354400-33360800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:33354400-33360800	Weak transcription	Left Ventricle	heart
22	chr22:33354400-33362200	Weak transcription	Fetal Kidney	kidney
23	chr22:33354400-33363000	Weak transcription	Lung	lung
24	chr22:33354400-33363800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
26	chr22:33354600-33357400	Weak transcription	Fetal Lung	lung
27	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
28	chr22:33354800-33359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:33354800-33363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:33355000-33357400	Weak transcription	Fetal Heart	heart
31	chr22:33355000-33362400	Weak transcription	Placenta	Placenta
32	chr22:33355000-33363600	Weak transcription	Right Atrium	heart
33	chr22:33355200-33361000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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