Variant report

Variant	rs5998677
Chromosome Location	chr22:33361147-33361148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10483168	1.00[JPT][hapmap]
rs11089599	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703516	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703817	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703888	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704480	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11704744	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704887	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704993	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12157614	1.00[YRI][hapmap]
rs12157696	1.00[YRI][hapmap]
rs12158631	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12160160	1.00[YRI][hapmap]
rs133928	1.00[CHB][hapmap]
rs137543	1.00[CHB][hapmap]
rs137559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137560	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137564	0.83[AMR][1000 genomes]
rs17779789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991375	0.81[CEU][hapmap]
rs2042793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042794	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081727	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25112	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35463351	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441575	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994648	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994649	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994654	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998660	1.00[YRI][hapmap]
rs5998668	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998671	1.00[YRI][hapmap]
rs5998679	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998682	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998689	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998693	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73158385	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73158393	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73162010	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162024	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162026	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162029	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162032	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139118	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139584	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142585	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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:41 , 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	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33354000-33363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:33354400-33362200	Weak transcription	Fetal Kidney	kidney
7	chr22:33354400-33363000	Weak transcription	Lung	lung
8	chr22:33354400-33363800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
10	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
11	chr22:33354800-33363200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33355000-33362400	Weak transcription	Placenta	Placenta
13	chr22:33355000-33363600	Weak transcription	Right Atrium	heart
14	chr22:33357800-33362000	Weak transcription	HepG2	liver
15	chr22:33359800-33361400	Enhancers	NHEK	skin
16	chr22:33359800-33362600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:33359800-33362600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:33359800-33362600	Enhancers	HMEC	breast
19	chr22:33359800-33363600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:33360000-33363200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr22:33360000-33363600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:33360400-33361200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr22:33360400-33361200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr22:33360600-33361200	Enhancers	Adipose Nuclei	Adipose
25	chr22:33360600-33361200	Enhancers	Colon Smooth Muscle	Colon
26	chr22:33360600-33361200	Enhancers	Fetal Lung	lung
27	chr22:33360600-33361200	Enhancers	Right Ventricle	heart
28	chr22:33360800-33361200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr22:33360800-33361200	Enhancers	Left Ventricle	heart
30	chr22:33360800-33363000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:33361000-33361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:33361000-33361200	Enhancers	Esophagus	oesophagus
33	chr22:33361000-33361200	Enhancers	Fetal Intestine Large	intestine
34	chr22:33361000-33361200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr22:33361000-33362400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:33361000-33363000	Weak transcription	Fetal Stomach	stomach
37	chr22:33361000-33363000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:33361000-33363400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:33361000-33363400	Weak transcription	Fetal Heart	heart
40	chr22:33361000-33371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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