Variant report

Variant	rs2239253
Chromosome Location	chr14:72779635-72779636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1002105	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs11847225	0.81[CEU][hapmap]
rs11851422	0.81[CEU][hapmap]
rs12147219	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147220	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147238	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147792	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12147803	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12883470	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12891167	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12895250	0.88[ASN][1000 genomes]
rs12897241	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1402065	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1520327	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1520329	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1589301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17109194	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17109324	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17109573	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17110829	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1879288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes]
rs1981604	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2079501	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2238200	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2238203	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2238208	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2238209	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2238210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2238219	0.82[EUR][1000 genomes]
rs2238220	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238223	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238224	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238225	0.81[CEU][hapmap]
rs2238226	0.81[CEU][hapmap]
rs2238228	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238229	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238230	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238231	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238232	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238233	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238234	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238235	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238236	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238237	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238239	0.90[CEU][hapmap]
rs2238240	0.90[CEU][hapmap]
rs2239226	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2239236	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs2239252	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239254	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2239256	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2239260	1.00[GIH][hapmap]
rs2239262	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2283386	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2283387	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2283389	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs2283393	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2283394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283399	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2283400	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34122902	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34373542	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs34755616	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34905590	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35133217	0.98[EUR][1000 genomes]
rs35291137	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35413081	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4324071	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4899431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903000	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4903005	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4903008	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs4903011	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55954287	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56263585	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66507723	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66823874	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67838629	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7155750	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7156265	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7156404	0.82[EUR][1000 genomes]
rs722561	0.82[EUR][1000 genomes]
rs72721816	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8006974	0.80[CEU][hapmap]
rs8013850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015237	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015476	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs8016936	0.81[CEU][hapmap]
rs8019126	1.00[GIH][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72775400-72780200	Enhancers	Colon Smooth Muscle	Colon
2	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
3	chr14:72775800-72780200	Enhancers	Ovary	ovary
4	chr14:72778000-72781400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:72778000-72782400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:72779400-72780200	Enhancers	Left Ventricle	heart
7	chr14:72779400-72780400	Enhancers	Fetal Heart	heart
8	chr14:72779400-72780600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72779400-72781000	Weak transcription	Fetal Lung	lung
10	chr14:72779600-72779800	Enhancers	Fetal Kidney	kidney
11	chr14:72779600-72781200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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