Variant report

Variant	rs2042793
Chromosome Location	chr22:33364704-33364705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10483168	1.00[JPT][hapmap]
rs11089599	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703516	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703699	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703817	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703888	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704480	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11704744	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704887	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704993	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12157614	1.00[YRI][hapmap]
rs12157696	1.00[YRI][hapmap]
rs12158631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12160160	1.00[YRI][hapmap]
rs133928	1.00[CHB][hapmap]
rs137543	1.00[CHB][hapmap]
rs137559	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137560	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137561	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137564	0.86[AMR][1000 genomes]
rs17779789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042794	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081727	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25112	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35463351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441575	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994649	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994654	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998660	1.00[YRI][hapmap]
rs5998668	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998671	1.00[YRI][hapmap]
rs5998677	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]
rs5998679	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998682	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998689	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998693	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73158385	0.83[AMR][1000 genomes]
rs73158393	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73162010	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162024	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162026	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162032	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139118	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139584	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142585	0.96[AMR][1000 genomes];0.94[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:28 , 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	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
6	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
7	chr22:33361000-33371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33361200-33368400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:33362200-33365800	Enhancers	Duodenum Mucosa	Duodenum
11	chr22:33362200-33365800	Enhancers	Fetal Intestine Small	intestine
12	chr22:33362200-33366400	Enhancers	Fetal Intestine Large	intestine
13	chr22:33362400-33365800	Enhancers	Liver	Liver
14	chr22:33363000-33364800	Enhancers	Fetal Stomach	stomach
15	chr22:33363200-33364800	Enhancers	Stomach Smooth Muscle	stomach
16	chr22:33363200-33365800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:33363400-33365800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:33363400-33365800	Enhancers	Fetal Heart	heart
19	chr22:33363800-33365200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:33363800-33365400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:33363800-33365600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr22:33363800-33366800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:33364000-33366400	Enhancers	HepG2	liver
24	chr22:33364000-33367800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:33364200-33366400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:33364400-33365000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:33364600-33365800	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:33364600-33367000	Weak transcription	Fetal Kidney	kidney

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