Variant report

Variant	rs4971556
Chromosome Location	chr2:50341055-50341056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1037428	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490240	0.92[ASN][1000 genomes]
rs10865243	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125288	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125289	0.92[ASN][1000 genomes]
rs11125290	0.92[ASN][1000 genomes]
rs11125291	0.92[ASN][1000 genomes]
rs11125292	0.92[ASN][1000 genomes]
rs11125294	0.89[ASN][1000 genomes]
rs11883844	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11887484	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11898302	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11901625	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12151722	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151727	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465888	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12468151	0.92[ASN][1000 genomes]
rs12468252	0.89[ASN][1000 genomes]
rs12468342	0.90[ASN][1000 genomes]
rs12468396	0.90[ASN][1000 genomes]
rs12469244	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12473119	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12474335	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12477934	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12478732	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12479057	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12613266	0.95[ASN][1000 genomes]
rs12613778	0.89[EUR][1000 genomes]
rs12620250	0.91[ASN][1000 genomes]
rs12622844	0.94[ASN][1000 genomes]
rs12622858	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1377233	0.80[EUR][1000 genomes]
rs1452766	0.81[EUR][1000 genomes]
rs1452767	0.81[EUR][1000 genomes]
rs1452768	0.82[EUR][1000 genomes]
rs1452778	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1452779	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1452780	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1452781	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1452783	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1517827	0.88[ASN][1000 genomes]
rs1563024	0.88[ASN][1000 genomes]
rs1563026	0.91[ASN][1000 genomes]
rs1563027	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1584763	0.89[ASN][1000 genomes]
rs17039801	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17039807	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17039848	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17039863	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17039900	0.99[ASN][1000 genomes]
rs17039905	0.94[ASN][1000 genomes]
rs17039932	0.93[ASN][1000 genomes]
rs17039935	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039940	0.93[ASN][1000 genomes]
rs17039947	0.92[ASN][1000 genomes]
rs17039985	0.91[ASN][1000 genomes]
rs1840074	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880075	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961358	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2011317	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2045003	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34350062	0.85[EUR][1000 genomes]
rs4032305	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4641977	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4971554	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4971648	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971649	0.91[ASN][1000 genomes]
rs57366806	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61035060	0.92[ASN][1000 genomes]
rs6716404	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731360	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72874683	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72874698	0.91[ASN][1000 genomes]
rs72878115	0.89[EUR][1000 genomes]
rs72878120	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72878122	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72878124	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72878157	0.94[ASN][1000 genomes]
rs72878159	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72881242	0.91[ASN][1000 genomes]
rs7590544	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607863	0.92[ASN][1000 genomes]
rs896683	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896684	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs896685	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921572	0.89[EUR][1000 genomes]
rs921573	0.90[EUR][1000 genomes]
rs930752	0.82[EUR][1000 genomes]
rs9917277	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2755683	chr2:50307245-50345280	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50330400-50345600	Weak transcription	Fetal Brain Male	brain
2	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50338400-50343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:50339200-50342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:50339400-50343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:50340400-50342600	Weak transcription	Fetal Intestine Large	intestine

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